Pediatric Department Book Part 1 (2019-2020).pdf

€ Pediatrics Department t PEDIATRICS FOR MEDICAL STUDENTS Part 1 Under supervision of Prof. Dr: lman Ehsan Abdel Meguid Professor of Pediatrics &Genetics Chair of the Pediatrics department Faculty of Medicine Cairo University 12T'EDITION PREVIOUS EDITIONS 1" EDITION: prof. Dr. Abdel Hakim Shehata: tg74 znd EDITION: prof.Dr. Safwat Shoukry: l97g 3'd EDITION: Prof.Dr. Hussein Kamel Bahaa Eldin: lggg cth romON: prof.Dr. Ekram Abdelsalam: 1gg9 5th EDliloN: prof.Dr. Mohammed Khalil Abdelkahlek: 1991 5th and zth EDITIoNS: prof.Dr. Fadia Mahmoud: 2003-4 8th EDITION: prof.Dr. Mona Abouzekri: 2010 - gth EDtTloN: prof.Dr. Ahmed Elbeleidy: 2013 lOth EDITION: prof.Dr. Magda Badawy: 2016 llth and 12th EDlTloN: Prof.Dr. lman Ehsan Abdel Meguid: 2OLl-201g EDITORIAL BOARD FOR llth AND 12TH EDITION Editor in Chief and Module Coordinator: Prof. Dr: lman Eyada Associate Editor and Designer Prof. Dr: Mostafa Zakaria Editor: Prof. Dr: Ahmed Badr ill Pediatrics for medical students presents brief and comprehensive information, addressing the requirements of the undergraduate curriculum in an interesting manner. The students will study the fundamentals of Pediatrics and child health as well as have a thorough knowledge of important diseases of children. The current L2th edition has many unique features. The newly introduced colorful layout and various illustrations, the updated knowledge and recent guidelines make the book more readable and student friendly. lt is a continuation of the effort started by our fate professor Abdel Halim Shehata since 1974. In the current edition Contributed by our distinguished professors, all chapters were written and presented in a uniform and consistent style to facilitate an easy and clear understanding of the subject, I would like to express my deep appreciation to Professor Dr.lman Eyada, our Module Coordinator and Editor-in-Chiel for her enormous efforts and devotion to the creation of this book. A special thank you goes to Professor Dr.Mostafa Zakaria for his exceptional efforts in both editing the contents of this book and designing its layout. Lastly I would also like to acknowledge Professor Dr. Ahmed Badr for his remarkable contributions. Wishing the very best to all our students Dr.lman Ehsan Abdel Meguid Professor of Pediatrics &Genetics Chair of the Pediatrics department Faculty of Medicine Cairo University IV E T. GROWTH AND DEVETOPMENT....... 1 Revised by Prof. Dr. Mona Mamdouh, Prof Dr. Lobna Fawaz 2. NUTR!T!ON...,.....,...........30 Revised by Prof. Dr. Hanna Aboulghar 3. GENETTCS........70 Revised by Prof. Dr. Sawsan Abdelhady,Prof. Dr. lman Ehsan, Prof. Dr. Hala Elguindy, Prof.Dr. Ahmed Badr 4. EMERGENC!ES................92 Revised by Prof.Dr.Ahmed el Beliedy and Prof.Dr Hafez Bazzarae 5. INFECTTONS AND VACCTNATTON.................1L9 Revised by Prof.Dr. Nehalel koufy, Prof.Dr. Mostafa Zakaria, Prof.Dr. Nermen Moftah 6. NEONATOTOGY............153 Revised by Prof.Dr. Zahra Ezzeldin, Prof.Dr. lman Eyada, Prof.Dr. Rasha Gamal, Prof.Dr. Dalia khairy,Prof.Dr. Dalia Saeed,Prof. Dr. Yasmen mansy,Prof.Dr. Nermen Ramy, Prof.Dr. lman Abdelghany, Prof. Dr. Alia Adel 7. GASTROENTEROrOGY..................224 Revised by Prof.Dr. Ayman Emil V.; ?TUlTUOC 1........................:................. Tl{lMgOJ:lVtO O}lA HTWOfl a.l r6w6l 6n&l.rO 1or9.duobmsM snoM.rO.lor9 yd beaivefi \-, 0f........... ef,|Tll,l]A.€.lor9.nsad3 nsml.rO.lot9 ,ybsdlsbdA nsews?.rO.lor9 yd bszivsfl rbs8 bgmdA.r0.lor9.ybniugl3 slsH.r0 se................ elt)yt]Df,tMt.$ '\--, gsrssssS sslsH rO.lorg bns ybsils8 ls bgmdA.r0.torg yd bsaivsfl err......... ,sirels5 ststaoM.rO.lor9.vluo.J lg lsdsH.rO.lor9 yd bszivsfl rlsfloM ngmrgl4.rO.lorg €4I....................e.r.... yaOJOTAnOtbt.a.rO.lor9.sbsy3 nsml.rO_lo'r9.niblgssl srdsS.rO.lorg Vd bgaivsfi.rO.lor9.bges? sils0.rO.lori.grisdJ sils0.r0.lor9.lsmsO sdasfl nsml.rO.lorg.ymefl nemrgH.'rQ.lorg,yznsm nsmesy. lsbA silA.rQ.lorg,ynsdglsbdA $ss.................................yaoJottTyt3ofT?AD.f liml nsnryA.r0.lor9 yd beaivsf \-, Y'-n inition. Growth: increase in mass and dimension of the body, it includes aspects as weight, length and head circumference. Development: maturation of functions and gaining of various skills, it includes aspects as motor developmenFental development and sexual development. Both growth and development go parallel to each other. Growth Development '.|. Embrvonic staqe:The first 8 weeks. 2. Fetal staqe: from 9th to the 40th weeks ' Earlv: 9-24 weeks. ' Late: 25- 40 weeks. o Includes maximum rate of growth (accounting for 30% of adult heieht). o Factors affecting: Maternal and placental health and fetal insulin. 1. Neonates: first lueeks of life (2S days of life) 2. Infancv: from one month to 2 y-ears 3. Childhood: ' Early childhood (preschool): 2-6 years. Factors affecting include: Growth hormone, thyroid hormone, good health genes' 4diapplless, ' Late childhood (school): 5:12 years. o Factors affecting include: Growth hormone, thyroid hormone, good health and happiness. genes. 4. Adolescence z,I2-2}-years o Divided int_o early, mid and lalg adolescence o Factors affeciihg: Tesiosterone}strogen, growth hormone Factors atfecting physical growth 1. Race: There is racial difference in rate and pattern of growth. 2. Familv: Height and body frame are inherited from parents (Genetic factors). 3. Sex: Girls grow faster from the 7th month to 4 years and start puberty at a younger age. 4. Chromosomal disorderc: (as Down syndrome): usually show retarded growth. 5. Socioeconomic factors: Poor housing and hygiene and poor health can delay growth. 6. Nutritional status: Under nutrition delays growth while over nutrition can lead to obesity. 7. Chronic illness: Renal, liver, chest diseases, cardiac and GlT. 8. Developmental anomalies: as cleft palate, pyloric stenosis and renal anomalies. 9. Chronic infection: e.g, Tuberculosis and brucellosis. 10. Endocrinalfactorc: a. Growth hormone: deficiency causes proportionate short stature, normal mentality and characteristic features b. Thyroid hormone deficiency: disproportionate short stature, mental retardation and coarse face in infants and children with congenital hypothyroidism (Cretinism). c. Proportionate short stature in children with acquired hypothyroidism, d. Androgens: Excess androgens cause tall stature as a child but proportionate short stature later as an adult.. e. Adrenal cortisol: deficiency causes failure to thrive and asthenia f. Excess steroids whether endogenous or exogenous causes short stature with characteristic obesity (Cushing syndrome). Poor housing, poor hygiene and poor Growth hormone deficiency health can delay growth 2 Main parameters: weight, length in infants (or height after the age of 2 years) and head circumference. Other parameters include the following: r Bodv proportions: As upper/lower segment ratio. r Dentition: lt includes primary (deciduous) and secondary (perma nent) dentition.. Vital signs: Heart rate, respiratory rate and blood pressure.. Bone age (Radiological). 2. Motor development: Gross motor as sitting, standing and walking, etc, and Fine motor as hand and finger grip. 3. Mental development:as social development and speech, ,etc. 4. Sexual development: it includes the stages of puberty, 1. Phvsical qrowth Weight. Essential to monitor growth,. Weighing infant naked and children only with the minimal clothing.. At birth: 3 Kg (Normal from 2.5 to 4 Kg). Then weight gain is about The weight is 1" 4 month Slak7/month At4months 6kg 4-8month Llzkelmonth At8months 8kg 8- 12 month Ll4 Kg/ month At 12 months 9 kg 2no year 3 kg At 2years L?kg 3-6 years 2kglyear At 5 years 20 kg 5-10 years 2.5 kgl year At 10 years 30 kg. Weight calculation equation between 1 and 6 y€ors = age x 2 + 8. Birth weight is doubled at 4 months and tripled at 12 months. @ c c ngth and height ' Under 3 years the length is measured in supine position. ' Over 3 years height is measured in standing position. ' Between 2 and 3 years both length and height should be measured o, birth:50 cm : ' 6 months: 58 cm ' L Vear: 75 cm ' 2 years: 87 cm ' 3 years: 94 cm ' ,.,rna will be 135cm at 9 years Height will be 150cm at 12 years. Height is doubled at 4 years and tripled at 12 year Body proportions (upper segment / lower segment) ' Upper segment: from the crown to the upper border of symphysis pubis (Sitting height).. Lower segment: from symphysis pubis to the heel, At birth: t.7lI 3 years: L.3/I 7 years: 1.0/1 (equal upper and lower segment tr Value: differentiate proportionate from disproportionate short stature tr Causes of disproportionate short stature ( see later) Upper segment Lower segment 4 Head circumference ' At birth: 35 cm. ' 6 months: 43 cm ' l year: 47 cm.. L2 cm during the first vear. ' 2 years: 49 cm ' 4 years: 50 cm. 6 years: 5l- cm L2 years: 53 cm. I 6 cm onlv during lL years. Fontanelles. Anterior ' At birth: 3 fingers : 5 cm width (side to side) ' 6months: 2fingers ' Lyear: Lfinger ' 1.5 years: Closed. Posterior: Closed at birth. Dentition. Teething in the lower jaw precedes the upper by 1 month. There is a wide range in the time of eruption. Deciduous teeth are (20) while the permanent teeth are (32). o Primarv or Deciduous teeth ' Central incisors 6 months ' Lateral incisors 8 months ' First molar L2 months ' Canines l-8 months ' Second molar 24 months. Guspids {Canines} CuspidE (Canines) 5 1tt premolar ' Central incisor 7 years ' Lateral incisor 8 years ' First premolar 10 years ' Second premolar 11 years ' Canine 12years ' Second molar 13 years ' Third molar l7-22years Calculated ' Through appearance of ossific centers ' Size and shape of the ossific center ' Fusion of the epiphysis with rest of the bone ' Ossific centers around the knee joint are well developed ' Delayed appearance indicate delayed bone age (hypothyroidism) ' The L't carpal bone is ossified at the age of 6 month ' Then, there is one ossific carpal center per year ' lyear : 2 ossificcenters ' 2 years; 3 ossific centers and so one : I I For accurate calculation special atlases are used. '@. Normally bone age corresponds to the age of the child.. Markedly delayed bone age : endocrinal deficiencies (hypothyroidism - GH deficiency - androgen deficiency). Advanced bone age: excess androgen - excess growth hormone - hyperthyroidism.. Normal bone age with short stature: familial short stature - skeletal dysplasia Vital signs Heart rate Respiratory rate Blood pressure Newborn r30 55 80/60 6 months r20 40 80/60 1 year r20 35 80/60 4 years 100 25 80/60 10 years 90 20 I 10/65 Definitions: lt is a graphic assessment of the physical growth of a child, Background. There is a wide range of variations among normal children of the same age. ' Each child has his own inherited pattern of growth. Growth curves are essential to ' Demonstrate the normal growth variations.. Summarize the growth data ) earlier diagnosis of abnormal growth e.g. short stature Tvpes L. Percentile growth curves (used forfollow up of the child duringthe well child visits). 2, Standard deviation curves. 3. Velocity curves... Criteria of curves 1. Made for different aspects of phvsical growth: height, weight and skull circumference. 2. Percentile curves varv from:. Boys to girls (charts for boys and other for girls are available).. One country to another (charts for Egyptian children are now available).. Age: charts for the first 36 months and charts from children2 -20 years. 3. Each chart is composed of 7 percentile curves ' 50th percentile the median (the mean) ' 25th percentile 25% of children are below that ' 10th percentile I0% of children are below that ' 5th percentile 5% of children are below that and it is considered the lowest limit of the normal I 75th percentile : 75% of children are above that I 90th percentile : 90% of children are above that I 95tn percentile : the highest limit of the normal Uses A. Single measure: Gives an idea if the child is T Normal : lie between 5th percentile and 95th percentile I Abnormal: less than 5th percentile or more than 95th percentile Example: weight under the 5th percentile is considered underweight while above the 95th percentile is overweight B. : Assess the growth rate I Any normal child should lie between the 5th and the 95th percentiles. I Should follow the same percentile level throughout the growth period. I Detect abnormal growth: any deviation from the child own curve. I Catch up: if a child's growth after a period of illness slows or retards & then growth accelerates to get the growth rate back to normal. I 9 10 11 12 13 dll !0 qi 50 i{9 {8 {} {6 f5 il4 {3 {? 4l rt0 3C 38 JI 36 35 3* 33 32 cm 2{ E l0 r? 14 16 t8 n z2 21 26 n 30 32 31 3t 14 Ar binh 3 months s 6-7 months 6 months Sits without sup il 8 months C ling 10 months 10 months Pincer grasp 12 months 15 months lks (holding on to fumiture) e 15 B. Motor development during early childhood (fine motor skills) 1l12Vear 2 years Ascends stairs in a child manner (step Descends stairs in a child manner by step) - runs stiffly and runs well 3 years 4 years Ascends stairs in an adult manner Descends stairs in an adult manner (alternate steps)- can pedal tricycle 5 years 6 years Can hop on one feet Can dress himself Can draw triangle, square C. Motor development during late childhood (fine motor skills) I Fine hand movement are well developed I At 6 years old child is able to write and dress himself. 16 A.Mental development during Inlancy (social &veloprcnt) 1 2 Follrc moving obiecG or light Smiles on social conffi (socidsnrlb) 3 4 Listens to music laughs and prcfers social contact 6 8 Recognlzes his mother 9 months Responds to wn nanp Wavs bay- hy Says ilama, Diada Plays simple ball game 17 B"Mental development during early childhood (speech development) 1 llh r 8s Hum tb Says only 2-3 words Says about 10 words Underctands seveml words Shows 2 parts of the bdy 2rc 3rc Yousset 3 years I loye Boy Dad about'lfflwords Gives full name, age and sex Says 3 words senlence (telegraphic) 4years 5rs Tells story - counts up to 10 Clear and fluent speech Recognizes 8 colors Asks about meaning of words G. Mental development during late childhood : learning ability A normal 6 years old child can draw a man with allfeatures ( Draw -A- man test) 18 Definition Height below the 5th percentile for age and sex. Tvpes 1. Proportionate short stature (normal variants - pathological) 2. Disproportionate: ' Short limbs: achondroplasia and hypochondroplasia, rickets, congenital hypothyroidism.. Short trunk: Morquio's disease Etioloqv Normal variants: 90o/o 1. Familial (genetic) short stature 2. Constitutional delay of growth and puberty. The most common cause of short Common problem in boys statu re. Short parents , Normal height parents. Short healthy subjects since birth. Normal length at birth. Then short within. Normal growth velocity. 2 years ( transient decelerated growth). Normal bone age , Delayed bone age. Normal puberty. Delayed puberty. Adult I height is short. Adult height is normal Growth hormone therapy may be useful. Reassurance is what needed Pathological: less than 10ah 1. r Down syndrome. r Turner syndrome r Mucopolysaccharidosis.. Skeletal dysplasia: e.g. achonroplasia. Russel Silver syndrome. Russel Silver syndrome Turner syndrome 20 C.f 4i5 r-rl fiv''tr^t6 orr i Q bcnc 2.. Growth hormone deficiencv. Panhypopituitarism e.g. craniopharngioma (rare but must be excluded). ' lsolated growth hormone deficiency. ' Insulin growth factor 1(lGF1) deficiency (Laron syndrome). Hypothyroidism : congenital /autoimmune thvroiditis ' Hypoparathyroidism.. Corticosteroid therapy Corticosteroid therapyl a prolonged high dose (equivalent to 5mg prednisone I day or more leads to short stature (Risk is reduced by alternate day therapy) 3. nd childhood. Chronic diseases (chronic kidney disease - cystic fibrosis - liver cell failure ma labsorption- hemolytic a nemia).. Chronic infections: Tuberculosis-bilharziasis. 4.. /r tt -ra*E Nutritional starvation diminishes s\g!!91! of growJh'bc'Lors. | {4n - ,L-e/ 1 \. Weight is more affected than the height vt- ar'cl TIr"t 1_:\{J _) i\ 5. Social short stature. Psychological deprivation: disturbed child-mother or family relation reduces growth hormonerelease / P"t(s I t' | ('' i'"-r't',Co'c"k")"'/' ['-zL\ --" r, t'; i 6 - T.U UlZ t ?ent''''." I''.i'" $ ror'')t r;^a Approach to a case of short stature Historv 1.. Family history of short stature, delayed puberty or genetic disease. 2. History of any chronic illness or social problems 3. History of steroids intake Examination 1. Measurements. Length of the parents and sibs. Most cases are familial. Calculate the mid parental height (sum of parents' heights/2) (plus 7 in boys and minus 7 in girls 21 2 sD-- [1cP ' The child should be within his/her target centile range = mid parental height c* 2SD-^ AA. Length of the child and upper segment to lower segment ratio (if disproportionate = disproportionate short stature ) 3. Genital examination and pubertal staging. L. Bone age assessment: x-ray of the left hand and wrist will diagnose the normal variant (familial/constitutional) and save unnecessary investigations. 2. Karvotvping in short females to exclude Turner syndrome (45 XO). 3. Anti-tissue transglutaminase (positive in case of Celiac disease):-- t::;' i,1,, A;n^u Skeletal survev if skeletal dysplasia is suspected (e.g. Achondroplasia). Rickets also should not be missed as a cause. lf bone age is markedlv delaved: Endocrinal assessment is warranted including: Thyroid profile - Growth hormone stimulation tests - Steroids and ACTH if clinically suspected. 5. lf pituitarv hormonal deficiencv is diagnosed (lsolated GH deficiency or Panhypopituitarism): MRI to detect craniopharyngioma or brain anomalies. { Underweight: causes of marasmus: see later verweight (obesity) inition BMI (body mass index) > 95tt percentile (BMl: weight in Kg / height in square meter) 1. Exooenous obesitv genetic and environmental factors 2. Endoqenous obesitv. ' Cushing syndrome. ' Hypothyroidism ' Hyperinsulinism ' Turner syndrome. Prader -Willi syndrome ' Klinefelter syndrome ' Prader -Willi syndrome ' Growth hormone deficiency ' Pseudohypoparathyroidism 22 Macrocephaly Microcephaly and craniostenosis inition It is head circumference above the 95th percentile for age and sex. 1. Cranialcauses ' Familial large head. ' Chronic hemolytic anemia. ' Rickets. ' Achonroplasia and mucopolysaccharidosis 2. ' Hydrocephalus. ' Subdural hematoma and Subdural effusion. ' Brain tumors. ' Neurofibromatosis ' Cerebral gigantism (Sotos syndrome) ' CNS storage disease e.g. mucopolysaccharidosis (Hurler's syndrome) inition Head circumference below the 5th percentile for age and sex. A. True microcephaly Primarv (genetic) 1. Familial ( autosomal recessive) 2. Autosomal dominant 3. Syndromes (Down: trisomy 21)- (Edwards:trisomy 18)-( Cri du chat:5p-y Secondarv (non- genetic or acquired) Destructive processes affecting the brain during fetal and early infantile life 1. Prenatal causes ' Congenital infections e.g. Cytomegalovirus, Rubella ' lrradiation ' Drugs e.g. -) fetal alcohol syndrome. 2. Perinatal causes 23 ' Hypoxic ischemic injury. ' Intracranialhemorrhage. Post- natal causes ' Kernicterus ' CNS infections: meningitis -encephalitis. ' Intracranial hemorrhage. True microcephaly B. Craniostenosis ( craniosynostosis) Definition Premature closure of skull sutures. When it is generalized: Multiple sutures (microcephaly, motor and mental retardation). Tvpes: t. Genetic syndromes: as with exophthalmos in Crouzon's syndrome. 2. lsolated congenital defect In craniostenosis there is 1. Palpable ridge in the region of the prematurely closed suture. 2. Papilledema and other manifestations of increased intracranial tension 3. Skull deformities 4. Skull X-ray: silver-beaten appearance Craniostenosis Historv 1. Prenatal e.g. history of infection, drug intake or exposure to radiation 2. Natal e.g. Obstructed delivery. 3. Postnatal e.g. meningitis. 4. Motor and mental development (mental retardation is a common association) 5. Family history may be positive in familialcases. Examination 1. Measure head circumference atbirth, small circumference denotes intrauterine insult, serial measurements are more important. 2. Associated dysmorphic features and congenital anomalies 24 3. Detailed neurological examination 1. X- Ray : Small-sized head Craniostenosis: small malformed cranium with silver beaten appearance True microcephaly: small cranium 2. Karyotyping 3. TORCH screening: CMV or toxoplasmosis 4. MRI to determine the degree of structural abnormalities of the brain (brain atrophy, intracranial calcifications with toxoplasmosis and CMV) Craniostenosis Smallcranium Silver beaten appearance True microcephalv 25 Definition Period of life characterized by morphological and physiological changes, which occur in the growing boy or girl as the gonads change from their infantile to adult state. Aee of onset of pubefi It varies according to genetic, racial, socioeconomic and nutritional factors. In developed countries: - BoVs 9-14 years while girls 8-L3 years 1. The adolescent growth spurt: acceleration followed by a decleration of growth, terminated by epiphysealfusion and final adult stature 2. Development of the gonads 3. Development of secondarv sexual characters Staqes of puberW Sexualm rating in girls 1. Breast development: (controlled by estrogen) Stage 1 Preadolescent :elevation of papilla only Stage 2 Breast bud stage :elevation of breast papilla as a small mound ,enlargement of the areolar diameter 2 Stage 3 Further enlargement of breast and areola with no separation of their contours Stage 4 Projection of areola and papilla to form a secondary mound above the level of the breast 3 Stage 5 Mature nipple - areola pa rt of general breast contour 26 2. Pubic hair (controlled by adrenal androgen) Stage 1 Preadolescent: no pubic hair. Stage 2 Sparse growth of pubic hair appearing mainly along the labia. Stage 3 Hair is darker and spread over pubis. Stage 4 Hair is adult in Wpe (coarse and curly). Stage 5 Hair is adult in type and quantity, distributed as an inverse triangle. 3. Axillarv hair (controlled by adrenal androgen): males and females are the same Stage 1 No axillary hair Stage 2 Appearance of axillary hair Stage 3 Adult type Sexual maturity rating in boys The growth of testes and penis usually correlates with pubic and axillary hair (both features under androgen control| Stage 1 Preadolescent testicular size L,2,3 - Preadolescent penis size Preadolescent : no pubic hair ge 2 Testicular volume 4 - Slight enlargement of the penis Sparse growth of pubic hair mainly at the base of the penis ge 3 Testicular volume 5,6,7- Longer penis Hair is darker and spreads over the junction of the pubis Stage 4 Testicular volume 8,10- Further growth of penis Hair is adult in type ge 5 Testicular volume 15 - adult size penis Hair is adult in quantity and type, spreads to the medial thighs 27 Disorders of pubertv Precious puberty Delayed puberty Definition Onset of puberty before 8 years in girls or before 9 years in boys Tvpes 1. Normalvariant.Premature thelarche in girls ' Simple breast development at the age of 1--4 years. ' No other signs of puberty and it regresses spontaneously ' Both growth velocity and bone age are normal ' lt should be distinguished from precocious puberty in girls. Gvnecomastia in boys (breast enlargement) ' The commonest cause is pubertal gynecomastia that occurs in 30-50% of boys at time of puberty. ' ltshould be differentiated from local causes( tumors or excess fat) or hormonal causes that may lead to breast enlargement in boys. Premature adrenarche (premature pubarche) ' Pubic and axillary hair development before the age of puberty due to earlier maturation of adrenal androgens. ' lf it is with growth acceleration or occurs in a child associated less than 6 years , congenital adrenal hyperplasia or an adrenal tumor must be excluded 2. True precocious puberty(central) 3. Pseudo precocious puberty (Gonadotropin dependent) (Gonadotropin independentI Characters Characters. lt involves hypothalamic -pituitary. lt does not involve hypothalamic gonadal activation pituitary activation. High gonadotropin level. Normal gonadotropin level: prepubertal. lt involves both secondary sexual. lt involves only secondary sexual characters and increase in the size characters, gonads don't increase in and activity of the gonads. size. Spermatogenesis occurs in male and. Spermatogenesis in male and ovulation occurs in female ovulation in female don't occur. Etiolosv Etiolotr ldiopathic(mainly in girls): ttre commonest. Girls: ovarian tumors or excess Secondarv (commoner in boys) e.g. estrogen. Brain tumors- hydrocephalus.. Boys: testicular tumors or excess. Trauma and radiotherapy. a ndrogens 28 Definition Failure to develop secondary sexual characters by 13 years in girls or 14 years in boys. Tvpes 1. Hypogonadotropic hypogonadism 2. Hypergonadotropic hypogonadism Characters Characters 1. Low concentration of pituitary 1, High concentration of pituitary gonadotropin (FSH, LH) gonadotropin (FSH, LH) 2. Low testosterone in males and 2. Low testosterone in males and low low estradiol in females estradiol in females 3. lt is a primary gonadal failure Etiolosv Etiolosv L. CNS tumors L. Turner (45XO) the most common 2. CNS radiation +cause in girls 3, Head trauma 2. Klinefelter syndrome (47XXY) the most common in boys 3. Undescended testes 4. Orchitis e.g. mumps 5. Trauma 6. Radiation 3. Constitutional delay of growth and pubefi: see short stature Klinefelter syndrome Turner syndrome 29 A. At Puberty ' Estrogen: Development of mammary gland ducts Progesterone: Development of mammary gland alveoli Muscles At Pregnancv ' Estrogen, Progesterone, Placental Fat lactogen: Development of breast ' Prolactin is secreted (But milk production is inhibited by placental hormones) Nipple After childbirth Ducts Prolactin (anterior pituitarv) ' Stimulates milk production in the breast Glands Oxvtocin (posterior pituitary) Mllk prductbn sltes ' Stimulates ejection of milk from the breast B. Reflexes of lactation 1. Lactating reflexes. Milk production (Prolactinl. Stimulus: Suckling. Response: Milk production. Stimulus: Suckling, thinking of the baby or hearing his crying. Response: Milk ejection (2ry to release of oxytocin from the pituitary gland) 2. Suckling reflexes a. Suckling b. Rootine c. Swallowing: Stimulated when the milk is in the baby's mouth 30 1. Colostrum: see table below 2. Transitional milk: Transitional composition between colostrum & mature milk 3. Mature milk: is produced within 2-3 weeks Colostrum Mature breast milk Timing First 3 days Produced within 2-3 weeks Color Yel lowish (ueta carotene content) White Consistency Thick Thin Amount 50 mUday 1-2 litre/day Calories 57 Kcal/dl 67 Kcal/dL Specific gravity 1040-1050( higher) L020- 1040 pH Alkaline Acidic Protein content 8 gram%( higher) L.3 gram% Carbohydrate 5.5 gram%( lower) 6.7 gram% Fat 3 gram%( lower) 3.5 gram% Minerals 4 gram%( higher) 0.25 gram% : 1. Advantages of breast-feeding 2. Maintenance of milk flow 3. Program of feeding 4. Duration of breast-feeding 5. Technique of feeding 6. Problems with breast feeding 7. Adequacy of breast feeding 8. Drugs secreted in milk 31 A. Advantaqes for the Infant 1. Nutritional advantages !Q a. Composition of various nutrients is in proportions idealforthe infant's needs Water Calories Carbohydrates Fats Proteins 875% 67 Kcal/100 ml 7 gram% 3.5 gram% 1,.2 gram% b. Breast milk is the ideal food for infants, it is especiallv designed to meet their needs. Carbohvdrates ' B-Lactose is the main sugar ' Contains oligosaccharides that inhibit the binding of pathogens to mucosal surface Lactobacillus bifidus promoting factor ' Lipids ' Triglvcerides are the major source of energy in human milk (50% of calories) ' Long chain polvunsaturated fattv acids which are essentialfor brain development) are present in higher concentration ' Hind milk is responsible for sense of satiety and for delivering fatty acids responsible for cognitive function, hence importance of complete emptying of one breast before changing to other.. Protein ' Whey to casein ratio is 60: 40) easier digestion(whey is soluble protein) In cow milk it is 37:63 ) difficult digestion) gastric upsets ' Lactoferrin helps iron absorption and protects infant from bacteria. ' lmmunoglobulin: secretory lgA provide immune protection to the infant ' Digestive enzymes(lipase, amylase, protease) are present that help digestion. Vitamins and minerals ' lt has the amounts of vitamins and minerals needed except vitamin D and iron; however infants absorb them more efficiently than from formula L. Less phosphorus and calcium, but calcium phosphorus ratio is 2:t, optimalfor proper absorption. lt has less sodium. 2. lmmunologicaladvanlages: protective mechanisms in human milk. ' Bifidus factor (oligosaccharides) present in both colostrum and mature milk, favors the growth of lactobacillus bifidus which is an intestinal flora 32 :( 6li.r-,rn.1 int ec,tirn uJ (hc,v-l 0 S.ra€ aYon I u'p ('.i':' ,t, X AVot'J CovJ-nY"'\l' {n o\ Lc'"rc2a 6"' responsible for acid production -+acidic en of bacteria e,g. E-coli+ breast fed infants are less liable to diarrhea. ZBD Lactobaclllus blfldus E {oll a-/ - I Intestinalgrowth factor that stimulates the repair of damaged intestinal cells. ! Lactofererrin: Fe binding protein enhances the bioavailability of iron from human milk, reducing its availability for bacteria. lmmunoglobulins in colostrum and mature breast milk: (especially secretory lgA that provide mucosal protection) -+ protect against respiratory tract infections. Lysozymes and peroxides attack bacterial cell wall. Lymphocvtes, macrophages and polymorphs: have a role in phagocytosis and cytokine production and anti-staphylococcal factor T Interferon : antiviral I Low incidence of ; type 1 diabetes mellitus, hypertension and obesity and t (zv^"1'LaSt A"1., tP5f S L ,Qcr$C--) +ta ve ex*ifln "ioi"l-u^^^ t 1. Sterile, cheap, readily available regardless of time or and needs no preparation 2. Increased Intellectual Quotient (lQ) and academic performance B.r L. Strengthens mother-infant relationship 2. Oxytocin which is secreted during skin to skin contact is responsible for life long bonding, and skin to skin touch should be encouraged even in formula fed infants and between father and infant C. Advantaqes for the mother L. Prevention of postpartum hemorrhage (Oxytocin) 2, Economic (Cheap) a.-K" X cvr-tl X ll"rqs , 'JS' u/ A. ould be elevated to the height of the breast. : turned completely to face the mother with infant's nose at e to encourage proper latching hould be supported not just the neck. 4. The infant's isstraight. o Education of mother on different positions for breast feeding (Cradle hold, cross cradle hold, football hold, side lying hold, positions for twins) Poor positioning B, 1. The mother her infant's lips with her nipple. 2. The mother until her infant's mouth is wide open, then 3. her infant quickly to her breast, with the lower lip below the nipple. L. More areola is visible above than below the mouth. 2. wide open - lower lip turned outwards. 3. turned outward. Good attachment Poor attachment 34 Siens of etfective sucklins r. Slow deep sucks with pauses (Not rapid shallow) z. Swallowing movements 3. Leave the breast spontaneously Relaxed and sleepy after feeding (Not restless nor (Onset) Breastfeeding should be started as soon as the mother can, usually within the 1'thour r>^d cts soon qJ v" i^ AwcL^ / fossr blo 1. Demand feeding: - According to the infant's desire - Number of feeds: at least 8 / day - Intervals should not be > 2-3 hours by daytime and 4-5 hours by night - Demand feeding is associated with more milk production 2. Scheduled feeding (at reeular intervals): should b. ilg!$ (tt decreases milk production) Duration of feeding L. Vigorous baby needs only 5-7 min to evacuate the breast 2. Most of the milk is obtained early in the feeding (50% in the 1't 2 minutes) 1. Breastfeeding can be continued for 2 years 2. WHO recommends exclusive breastfeeding for the 1" 5 months 3. Weaning (lntroduction of foods other than milk) should be started at 5 months with early introduction of fleshy foods, vegetables and fruits 4. Vitamin D supplementation (from day 1 of life) and iron (at 4 months) 5. Prolonged exclusive breastfeeding after the age of 5 months (without supplementation) may lead to:.Vitamin D deficiency rickets (milk is deficient in vitamin D).lron deficiency anemia (milk is deficient in iron) Wmi|kbecomesnotenoughtomeetthe'requirements ylop p tlrri,rft' O. EE bbH ll.:ts-yS ,..' - th F.* i -? 3:;5 b0 o U).t =li 9 EEb,t iV.r a b{ -- b0 >'.==f'€ 9oa o - 6 X !,r - O h a) ah= tr tatdr =? ti r5 d a 9A--r'.-a+R fittttttlfi fi u s ud > 0) - d.= o - J< ^ h a Oa - - +i - rh I 00 d C) a a o F - rF OD v nq q:E H=^ OYnr ,i c) tr -.?EE E F3 (.) (.) DO oi N c.l co ;+€H€'iaa o Ov o = = ts T"-I Q'--.n'a h tjF! a 9.V Ee- OD -. tr 6 U' €, Y tr? ^-Y i!- HrO(g F BE< O,ffeo -J O z).; fr-w v x^ rllttl I F a\ a (/) ,< R tr F1 trca rS^ XFA tr :3 "'=.= ol AF-:I.. [n (n o 'n x F (u Y E.F trI b X ,Y-v -cj H a;. c Fli.: l-ri f \ ! Ol.-l v : t > rs.9 oU -\Y o Ya.^ = v, lil.i o !l >--+ 9,aO 5l s E E:E GU F ^ -! 00 (J tt v I & ov €O.^.2 €i3fr58 =e(aal !--Ll f.9 6F Ol Ir ro H --o j3^ = o _oEEo b\E!=Cgl el b0 E f,f,9,9o "tvE iiu) =.C ii FA O b FN; +. )iJiOcn !PE!>l " YUI il rv,ts ! a,l J L c rY'l r3Fi-9Ef v ='iit.q!t '= d:9> o ;- N'.n rl 2 trtrcd -d!rl el ,ii --Y-v) ltttl rbOrr o eeAe x!9e>l v I\VrVV!i ,, tl lr-I.ivuval 61 9 € ! lvl o o li \/ 5 -Fri Y t-At^t'l O d oi:v'-r'''r tuddd-.1 O- o L q) L ra tr o -g -g I q) Ch E! (u)) ^ ri+ui C, U:AA EE: $ 0) \oI N N I 6Dah G '.'.N Hl (\l \oI N E r-] -l | 1. Under nutrition (Protein+nergy malnutrition) 2. Overweight and obesity 3. Specific vitamin and mineral deficiencyr e.g., lron, vitamin D and A deliciency Nutritional status i ndicators 1. Underweight: Low weight for age 2. Wasting: Low weight for height 3. Stunting: Low height for age 4. Overweight: Increased weight for height Indicator Definition Egyptian children (UNICEF 2014) Undenrueight Low weight for age 6% Wasting Low weight for height 8% Stunting Low height for age 2t% Overweight Increased weight for height t4% Definition - Group of related disorders characterized by protein and energy deficiency - PEM is a common worldwide problem particularly in underdeveloped and developing countries - They have variable clinical and biochemical presentations (but overlap may occur) - Responsible for 50% of deaths in preschool children (Directly or indirectly) Contributinq factors to PEM L. Poverty, lgnorance, llliteracy 2. Infection: Recurrent gastroenteritis, measles, T8... 3. Urbanization: Breast-feeding becomes impractical for the working mother 4. Disasters. Natural: Earthquakes. Human-related:Wars s. Environmental degradation: due to wasting of resources (water, food, fuel, wood) 49 Glinical spectrum Features Wasting Edema f Wasting + I wixed marasmus and Kwashiorkor Edema Mixed Mixed Nutritional Short stature + dwarfism Mild to moderate form of chronic under- Underweight (Most common n utrition No wasting No edema Definition Severe form of chronic undernutrition caused by insufficient caloric intake Incidence - Nutritional marasmus: 6 months-2 years - Non-nutritional marasmus: Depends on the etiology Etiologv (JO Calories) t, Nutritional marasmus a. Dietetic - Scanty breast milk - Over-diluted formula b. Infection (Recurrent GE): -.lr..l, Intake: Anorexia and vomiting - tt Losses: Diarrhea - Wrong medical advice 2. Non-nutritional marasmus a. CVS: CHD, RHD d.Hepatic: Chronic liver disease (Cirrhosis) b. Respiratory.: TB, cystic fibrosis e.Blood: Chronic hemolytic anemia c. Renal: Chronic renal failure f. GIT: Malabsorption (Parasites, Celiac...) g. Others; Cleft palate, malignancy, starvation, anorexia nervosa 50 Glinical Picture 1. Loss of weight: Growth curves (Quite below the expected weight for age i.e., < 5th %1 2. Muscle wasting: assessed by mid-arm circumference (Normally > L5 cm at age 6 m-6 y) 3. Loss of SC fat: Thin wrinkled skin with marked bony prominences Weight loss Loss of SC fat 1't degree 15-25% of the expected weight Abdominalwall i 2no degree 25-35% of the expected weight Buttocks and thighs 3'o degree > 35% of the expected weight Face (Senile facies) 4. Vitamin deficiency: A, D, K, C, B (See kwashiorkor for manifestotions) 5. Mineral deficiency: lron deficiency anemia 6. Psychological: Anxious look, irritability, continuous crying, good appetite 1st degree 3'd degree Complications L. Recurrent infections: Pneumonia, gastroenteritis (GE)... 2. Hypothermia and hypoglycemia (Due to disturbed glucose metabolism) 3, Bleeding 4. Shock: Hypovolemic or septic 5, Electrolyte disturbances and dehydration 6, Mineral deficiency: lron deficiency anemia 7. Vitamin deficiency: see later Investiqations L CBC: Anemia, leukocytosis (lnfection) 2. Other markers of infections: CRP, ESR, stool analysis... 3. Serum proteins: Not markedly OO (DD: kwashiorkor) 4. Electrolytes, blood glucose 5. Investigations of non-nutritional marasmus 51 Definition Severe form of protein deficiency with adequate caloric intake in the form of excess cHo Kwashiorkor: Ghanaian word that Incidence describes the evil spirit, which infects the L" 6 months-2 years (Age of weaning) child when the 2nd child is born Etiolosv 1. Dietetic error: Replacement of milk intake (as apart of weaning process) by high carbohydrates low protein diet usually with the next pregnancy or delivery 2. Infections: c. Post-GE: anorexia, vomiting, diarrhea, wrong dietary restriction d. Post-measles 3. Maternal deprivation: Birth of another baby Clinical picture A. 1. Cause:. Hypoalbuminemia (.[,.f, Oncotic pressure). f f ADH and aldosterone(2ry to JO effective plasma volume) 9linicalpicture. Site of onset: Dorsum of the feet. March: Then becomes generalized; o LL edema o Dorsum of hands o No Ascites ' Character: Pitting 2.Mentalchanges Cause:..lrO Amino acids (Neurotransmitters)..l,O Niacin (and NAD, NADP) 52. Maternaldeprivation Manifestations. Apathy. Lethargy. Disinterested in the surroundings. Miserable. No mental retardation (These changes are reversible with Rx) 3. Disturbed muscle/fat ratio. Muscle: Wasting (OO Proteins). Fat: Excess SC fat (tf CHOI. Detected by Skin fold thickness 4.Growth failure May be masked by edema and excess SC fat B. Variable manifestations 1.Hair changes. Cause:. O.t Sulfur-containing amino acid. O.l, Tyrosine (OO Melanin). OO Copper. Manifestations ". Sparse, soft and easily detached. Light in color. Flag sign: With recovery (Alternating light and dark bands) 2.Skin changes. Cause:..t,O Vitamin A. O.,l, Zinc. OO Niacin. Disturbed amino acid metabolism Manifestations. Site: Buttocks, perineum. Lesions: Cracking, fissuring, ulceration, hypo- and hyperpigmentation t infection 53 3.Hepatomegalv. Cause:. Accumulation of fat and glycogen due to decreased lipotropic factors. Nutritional recovery syndrome: enlargement of the liver with initiation of TTT due to lipid storage t- - - - ' Manifestations 'Remember I t.Hepatomesalv is Variable. Liver: Enlarged and soft t^l I r rFatty infiltration is Constant i 4.GIT. Anorexia: Mental changes & infection. Vomiting: GE. Diarrhea: Mucosal damage, GE 5.vitamin deficiencv. Vitamin A: Keratomalacia, xerophthalmia, blindness, bitot spots. Vitamin B: Stomatitis and glossitis (ariboflavinosis), Beri Beri (ataxia, heart failure). Vitamin C: Scurvy. Vitamin K: Bleeding (Hypoprothrombinemia). Vitamin D: Rickets does not occur (Rickets is o diseose of growing bones). Niacin: Pellagra (dermatitis, dementia, diarrhea) 5.Infections: Gastroenteritis (GE), pneumonia T.Anemia Complications: see marasmus Investigations Laboratorv. CBC: Anemia, leukocytosis (lnfection).Serum albumin:.1,.1, (N = 3.5-5.5 g/dl).Serum globulins: OO q and p-globulins (tt y-globulins due to infections). Electrolytes: o Hvpokalemia o Hvponatremia. lt is dilutional (N: 135- 145 mEq/L) Total sodium increased (aldosterone), but serum sodium decreased (waterretention) o Hvpomagnesaemia. Hypoglycemia Differential edema I Other causes of generalized edema 54 Mechanism clP Nephrotic Hypoalbuminemia (OO Nephrotic synd rome ( Describe) oP) Nutritiona Hypoalbuminemia (OO Kwashiorkor (Ascites is very rare) I oP) Hepatic Hypoalbuminemia (OO Jaundice, hepatomegaly,,. oP) Cardiac Tachycardia, Tachypnea, Tender Of Venous pressure hepatomegaly Allergic History (exposure) + ltching + Urticaria It Capillary permeability (wheals) ' Skin diseases a. Pellagra: 3Ds (Dermatitis, Dementia, Diarrhea) b. Diaper dermatitis Other causes of PEM: See classification table. Etiology - Kwashiorkor patient: with CHO restriction - Marasmic patient: treated with CHO diet Muscle wasting (without adequate proteins). Clinical picture - Kwashiorkor patient (Edema) + Loss of SC tissue - Marasmic patient (Wasting) + Edema Foot edema. Mild to moderate form of chronic undernutrition. Short stature, Underweight and Recurrent infections (No wasting and No edema) Prevention 1. General measures: Environmental sanitation, Socioeconomic development Adequate food supply, prevention of infection 2. Promotion of breastfeeding: lt is the simplest, cheapest and most effective method 3. Heath education 4. Nutritional education: Value of breastfeeding, proper weaning... 5. Regular assessment of child health and growth pattern: Growth curves 6. Regular assessment of nutritional state: Early manifestations of nutritional disorders 7. Proper management of childhood infections: Especially GE.,, 8. Proper antenatal care 55 Management of protein Energv malnutrition A) Hospital Management 1. Indications - Moderate or severe Kwashiorkor - Marasmic kwashiorkor - degree marasmus 3to - Complications 2. - Infection (GE, pneumonia...): Proper antibiotics - Shock: Shock therapy (lmmediate lV fluid: Lactated ringer's 20 ml/Kg) - Dehydration: lV fluid therapy (Deficit therapy) - Electrolyte disturbances: should be corrected - Anemia: Packed RBCs - Hypoglycemia (lV glucose), hypothermia: adequate clothing or radiant warmer B) Nutritional Management (Home or hospital) w).s).ovr lt- Uor€l +"^-? \5 QJQ"'c'r s,*' {o{ ,$u "/ , / ,C\ (o' rry )s6 n\\} Y).-_/>(. r*p \\) 1"-$-* ^tl* Nf -\* d \N, )t'n!' l,c l' l't' L1 , Vitamins ,'Vitamin A : - L2 months: 200.000 lU/day i- >. Vitamin B, C, D, E, Folic acid inf,. r"( I Minerals r lron (a-6 melkeldaV) iNB: Sequence of improvement in kwashiorkor: Mood, then appetite, then edema regress & | lfinalty muscle bulk and edema l---- disappear i -----J Complications of treatment 1. Diarrhea: Due to transient CHO intolerance (Lactose) 2. Nutritional recovery syndrome: Firm enlarged liver Definition A state of under-nutrition due to inadequate caloric intake, inadequate caloric absorption, or excessive caloric expenditure. Etioloov r Nonorganic (social or environmental), r Organic (medical), r Multifactorial and includes biologic, psychosocial, and environmental contributors. r In more than 80 percent of cases, a clear underlying medical condition is never identified. A. Non organic: environmental and psychological factors :95To 1.. Feeding problems: insufficient breast milk or incorrect preparation of formula.. Feeding disorder e.g. anorexia or infant difficult to feed.. Food: unsuitable or insufficient. 57 r Low socioeconomic status. 2. Psvchological deprivation. Poor maternel infant interaction. Poor maternal education. Maternal depression.. Family problem: divorce - lack of support. 3. Neglect or child abuse B. anic:5% L.. lmpaired suckling or swallowing: cleft palate, cerebral palsy, congenital heart disease.. Chronic illness lead to anorexia: chronic renal failure, liver disease. 2. : vomiting and sever gastro-oesophageal reflux. 3. (malabsorption): e.g. cystic fibrosis, coeliac disease. 4. : failure to utilize nutrients.. Metabolic disorders: amino acid and storage disorders.. Chromosomal disorders: Down syndrome.. Endocrinal: insulin dependent diabetes - congenital hypothyroidism. 5. ' Malignancy.. Chronic infections: HIV - immunodeficiency. ' Thyrotoxicosis.. Present history: any medical problems (cardiac, chest, abdominal, neurological). Nutritional history: food diary over few days - feeding pattern and habits.. Developmental history.. Family history: the growth of other family members and any illness in the family.. Neonatal history: if the child was premature or had intrauterine growth retardation.. Psychosocial history is essential for detecting maternal or patient depression, or identifying concerns about the caregiver's intellectual abilities or social circumstances : aim to identify whether the cause is organic or non-organic.. General examination: dysmorphic features, loss of fat, muscle wasting,. Detailed systems examination. Investiqations: L. Routine laboratory testing identifies a cause of FTT in less than L%of children and is not generally recommended 2. During Hospitalization: further investigation to the most likely diagnosis, Manaqement 1- Home management: most children can be treated in outpatient Children with mild failure to thrive can be managed by the primary care doctor and family. In more difficult cases team work inclurdes pediatrician, nutritionist, developmental specialist, nurses and social workers. 2- Hospital management for cases with severe malnutrition or complications a. Nutritional management is the main line of treat - Require more than 1.5 times expected calorie and protein intake for their age for catch up - For formula fed infants: increase the concentration of the formula gradually - For older infants: increase the caloric density of the given food by adding butter, oil or other high caloric value food - Vitamins and minerals supplementation b. Management of the cause and the associated complications e.g. congenital heart disease or sever gastro-oesophageal reflu Proqnosis and Outcomes I There is agreement that severe, prolonged malnutrition, which is common in developing countries, can negatively affect a child's future growth (stunting) and cognitive (and academic) development.. Children with a history of failure to thrive are at increased risk of recurrent failure to thrive, and their growth should be monitored closely. 59 ') _*l r() '('rt 7 i 'r 'r' 'l:'/' i' )c.); e t. "c/,. ,-1 ,\ Phvsiologic considerations 1. Full-term requirement of vitamin D = L0 [B = 400 lU/ day starting at birth 2. Preterm, twins and low birth weight require = 400-800 lU starting at the age of L month 3. Storage: in the liver (depleted in 5 months in exclusively breast fed infant) 4. Normal serum calcium Ca = 9-l-L mg/d. 5, Normal serum phosphate = 4.5 - 5.5 mg/dl. 5. Ca: Ph. ratio in blood = 2:L (optimalfor mineralization of bones) 7. Calcium exists in the body in 2 forms, ionized available for bone and nervous system growth and function and non-ionized form (storage form). Vitamin D Dietary: oily fish (salmon, sardines) Eggs, liver, fortified milk 25 Hydroxycolechocalciferol Fat soluble vitamin I v 1, 25 dihydroxychocalciferol - Kidney - Bones - Vitamin D Parathyroid hormone Intestine tl Ca absorption lt Ca absorption (through 11 Vit. D) Kidneys tl Ca reabsorption 11 PO+ excretion (Phosphaturia) Bones Normal mineralization of bones Bone resorption (fl Osteoclasts) 60 O dtvate ffolbnJ's ftirwvvlu Structure of normal bone: Formed of matrix (Osteoid tissue) and minerals (Ca and P) Bone lavers (in the epiphyseal region) 1. Zone of resting cartilage: 1 layer 2. Zone of proliferating cartilage: 6-8 layers g. Zone of ge (= Zone of provisional calcification): Deposition of Ca and P 2 \5 €one sfionc5 or h'^rJ S\^ft'}nl Qs\\cr\Qvr Definition of rickets o"J, -5. co.tL+PhosPr' Defective mineralization of the growing bones (Disease of childhood) \{'^'t''t - Pathophvsioloqv of rickets Jvit;c -J W:|"[;i" 1. Bone pathology in rickets: Proliferation without ossification 2. Epiphvsis: failure of Ca- Ph crystal deposition in the cartilage cells leading to excess cartilage cell proliferation that invade the metaphysis (broadening and fraying) 3. Diaphvsis: bone rarefaction and fracture Proliferation without ossification 61 n) Cadeficiencv rickets with 2rv ff PTH - Vitamin D deficiency - Malabsorption of vitamin D - Hepatic disease - Renal osteodystrophy a) Primarv POadeficiency {No 2rv ft PTHI - XL-D Hypophosphatemic rickets - Fanconi syndrome: PCT dysfunction [Glucosuria, phosphaturia, aminoacidurial c) End-orsan resistbnce to 1,25 {OHl. o) Cases resembling rickets: Hvpophosphatasia Another classif ication Non Nutritional More common 5 months-2 vears ) 62 Definition Defective mineralization of the growing bones (Disease of childhood) Incidence Rachitogenic diet is any of: o Deficient in vitamin D o Deficient in Ca & PO+ o Non-optimum Ca:P ratio r fJ Content ofphytate or oxalates. Cor,v_rylk (Non-optimum CalPh ratio)- t'4 b. I n adeq uateiu n ex@-sn re- C ,l. Wrapping w. Winter-time 'rlh fi r' i. Windows \ u.'.' ;c-,, 't-. Dark skinned people 7t,2a( \ B) ): MalabsorPtion, renal, hePatic diseases... Clinical Picture A. Skeletal , tp "15-,4'i"^ ) r,ac1, l.Head 1.Craniotabes: Ping-Pong ball sensation on pressing over the occiput (= Bone thinning) 6q\ron1".) First sign to appear. Frontal bossing. Macrocephaly. Delayed closure of AF. Delayed dentition 2.[imbs. Broadening of the ends of long bones. Marfan sign: Transverse groove across medial malleolus 'Deformities of the UL: Convexity of the forearm (if crawling) 63. Deformities of the LL - Genu varum: Bow legs - Genu valgum: Knock knees - Genu recurvatum: Overextension of the knees Genu varum 3.Chest. Rosary beads: Cartilage proliferation at the costochondral junctions 'Pigeon chest: tt np diameter of the chest (Protrusion of the sternum + rib ftaring) 'Harrison sulcus: Horizontal groove along the costal insertion of the diaphragm. Longitudinal sulcus: Vertical groove behind rosa ' 4.Spine: Due to laxity of ligament.Kyphosis (Correctable) "DD: Pott's disease". Scoliosis. Kyphoscoliosis. Lumbar lordosis 5.Pelvis: Contracted pelvis (important in ) \- Rosary beads Harrison sulcus B. Muscles and Ligaments Hypotonia due to hypophosphatemia leading to: 1. Delayed motor m ilestones (Sitting, crawl ing, sta nding, wa lking... ) 2. Downward displacement of liver and spleen (Visceroptosis) 3.Abdominal Distension due to: o HYpotonia o Visceroptosis (Not true enlargement) o Constipation C. Neurological ) r, 1. Anorexia, lrritability, sweating Remember 2. Hypocalcemic tetany: Ca is usually normal in rickets due to 2ry hyperparathyroidism \ a. Causes of hypocalcemia o Parathyroid gland exhaution o Bone depletion (prolonged untreated cases) o Vitamin D (lM massive dose): due to rapid mobilization of Ca from blood to bone b. Manifestations. Latent tetany (Serum Ca = 7-9 mg%) Asvmptomatic, onlv elicited bv provocation o Chvostek sign: Tapping of the Facial nerve + Twitches of facial muscles o Trousseau sign: Constriction of the UL by sphygmomanometer (Carpal spasm) o Peroneal sign: Tapping of the peroneal nerve +Pedal spasm Manifesttetanv (Serum Ca )'rtt "t :'7') ' ,', ,5t -> C.,-t2 - Hypervitaminosis D t ) B) Treatment of complications a. Tetany: lV Ca gluconate 10% "1 ml/Kg" (Slowly while monitoring heart rate, why?) b. Deformities and Fractures: Orthopedic care (After complete bone healing) c. f nfections: proper antibiotics * C!.i , f I'':' \', 6 1.r-e rc'l i d.lron deficiency anemia: lron (6 melKeldaVl 67 Etiolosv. Prolonged oralvitamin Dtherapy ,'/. Parenteral vitamin D therapy (Shock therapy) Clinical picture ' G T,_An glglda, I nause a, vlmi_tj_n g, ca n s$g t ig n. Renal: p_olydipsia, renalstones (Dysuria, colics, UTl...) lo!1lu1ia, Prevention Careful vitamin D therapy Investigations. Laboratory: tflelqrn tf U_rinary Ca -C_a,. lmaging: X-rays, US (Nephrocalcinosis, stones) Treatment Stop vitamin D and Ca therapy, lV fluids, Steroids Classifications A. Renal rickets a. - Etiology: Defective vita yation (1c-hydroxylation) and phosphorus retention - Chronic kidney disease should be suspected in patients with non-nutritional rickets b. Renaltubular - X-linked hypophosphatemic rickets - Vitamin D dependent rickets type 1 and 2 - Fanconi syndrome: Renal tubular defect [Glucosuria, phosphaturia, aminoacidurial - Cystinosis: Fanconi syndrome + Corneal cystine crystal (Pothognomonic) - Lowe syndrome: Oculo-qerebro-1enal syndrome [Glucoma and cataract-MR- Fanconil B. Malabsorption a. Cystic fibrosis b. Celiac disease 68 c. Chronic Cholestasis C. Hepatic rickets - Chronic liver disease - Due to defective vitamin D activation (25-hydroxylation) and defective absorption Investiqations. Treatment of the cause. Vitamin D dependent rickets: Active form of vitamin 0.I Vgl kg / day D Dose ' Hypophosphatemic rickets: oral phosphate. (o.5 gm / day) and Active form of vitamin D Clinical picture. Eye: Keratomalacia, xerophthalmia, blindness, bitot spots (= Conjunctival plaques). Skin: Dry, scaly skin. Increased susceptibility to infections: gastroenteritis and pneumonia Prevention. Diet: Eggs, liver, fruits, vegetables. Supplementation: - At the age of L2 months (with MMR vaccine): 100.000 lU - At the age of 18 months (with OPV, DPT and MMR vaccines): 200.000 lU Keratomalcia 69 Cell structure The cell is formed of : j A) Nucleus: ,Remember ' Nuclear membrane ' Rll cells have nuclei except RBCs ' N ucleolus , Total length of all DNA strands = 2 meters ' Nuclear matrix ' Chromatin: During cell division, chromatin is condensed into separate chromosomes B) lles ' Endoplasmicreticulum "Transport" ' Golgi apparatus "Protein svnthesis" ' Mitochondria "Energvproduction" ' Ribosomes "PIg!qiE@." ' Peroxisomes " Fattv acid metabolism" Human chromosomes Definition Thread-like structures found in the nucleus and formed of:. DNA (Deoxyribonucleic acid): carries the genetic information (Genes). Proteins [Histones and non-histones]: responsible for DNA coiling (Packing) Number. Each somatic cell contains 46 chromosomes (23 pairs = 2 n = diploid), classifi.d into' a.22 pairs of homologous (similar) chromosomes called autosomes b. One pair of sex chromosomes: XX in and XY in d. Each gamete (germ cells; ovum and sperm) contains 23 chromosomes (23 = n = haploid) a. 22 autosomes b. One sex chromosomes: X in ova and X or Y in sperms. The zygote contains 46 chromosomes; 23 chromosomes from each parent Structure. During cell division, each chromosome is formed of 2 chromatids connected together at the centromere. The centromere divides the chromosome into: a. Short arm = p arm (p for petit) b. Long arm = q arm. Chromosomes can be classified according to position of the centromere into: 70 SubnC|cmth Ilbc.nfic 1. Structure o lt is the part of DNA that codes for the synthesis of a single polypeptide chain. o lt is the molecular unit of heredity 2. Number o Each human has about 25,000 genes. o Two genes, one from the father and the other from the mother, determine every trait (feature or a character), except those on X chromosome. o lf both genes are similar ) homozvgous, lf they different ) heterozvgous o Hemizvgous: males for genes on X chromosome as they have only one X. 3. Tvpes o Dominant gene Express itself whether homozygous or heterozygous, the trait is determined by only one of the two genes. o Recessive gene Express itself, only when homozygous, the trait is determined by the presence of both genes o Codominant genes Both genes are expressed in the heterozygous 71 Karyotyping Definition. lt is the study of number, size and shape of the chromosomes in the cell. Chromosomes are stained, photographed and arranged in pairs in a standard manner Tvpe of the cells Lymphocytes, skin fibroblasts, amniocytes or chorionic villi cells (Not RBCs, why?) Number and Structure See before Classif ication of chromosomes Al ): Metacentric, Sub metacentric or Acrocentric (See before) B) According to the size:. Group A: 1-3. Group D: L3-L5 ' Group F:t9,20. Group B:4,5. Group E: 15-18. Group G:21,22 and Y. Group C:5-I2 and X h& efi Indications of Karvotvpi nq L. Spontaneous abortion (75% of abortions have chromosomal abnormalities) 2. Congenital malformation and dysmorphic features see later : 3. Malignancy 4. Amenorrhea 72 Classification of qenetic disorders t. Chromosomal abnormalities(in the autosomes or in the sex chromosomes) numerical or structural 2. Single gene disorders (in the autosomes or in the sex chromosomes 3. Multifactorial inheritance 4. Mitochondrial inheritance E fl 73 1. Numerical abnormalities a) Autosomal abnormalities ' Trisomy: one chromosome is represented by 3 copies "extra-chromosome e.g. trisomy 2L: (Down syndrome), trisomy L8: (Edward's syndrome) and Trisomy 13 (Patau syndrome). ' Monosomies: one chromosome is missing: (monosomy 2t-221. b) Sex chromosomal abnormalities ' Klinefilter syndrome (47,XXY male). ' Turner syndrome (45, XO female Trisomy 21 Trisomy 18 Trisomy 13 2. Structural abnormalities a) Translocation: transfer of material from one chromosome to another A. Reciprocal translocation: exchange of genetic material between 2 different 'chromosomes. o Robertsonian translocation: the whole chromosome is translocated to another. So, the total number of chromosome is 45 (also it is a numerical aberration) But with normol phenotype IBalanced translocation carrier] Example: translocation Down syndrome Duplication \\ b) Deletion: loss of a portion of chromosome mostly through breakage. Example: loss of the tip of the short arm of chromosome 5 e.g, Cri du chat syndrome. 74 b) Duplication: The presence of 2 copies of a segment of a chromosome It results from unequal crossing-over during meiosis cl Ring chromosome: deletion in which both ends of the chromosome have been lost and the two broken ends have reunited to form a ring. d) Inversion: fragmentation of chromosome followed by reconstruction but with segment inverted. ef lsochromosome: during cell division, the centromere divides transversely instead of longitudinally. Inversion ffiH # lE W H B. Single gene alteration (in the autosomes or in the sex chromosomes) ' Recessive: 2 copies of the abnormal gene are present. ' Dominanl: one single copy of the abnormal gene is present. C. Multifactorial inheritance ' lt the inheritance that results from the interaction between genetic and is environmental factors ' Examples e.g. congenital heart disease, pyloric stenosis, cleft palate. D. Mitochondrial gene inheritance ' lt is inheritance through mitochondrial DNA (mitochondria contain small amount of DNA ' lt is exclusively transmitted by the mother [Sperm does not contain mitochondria] E.g. mitochondrial encephalopathy and cardiomyopathy. Cell Nucleus 75 1. Abnormalfeatures a) Face: mongoloid features or coarse features. b) Eves: mongoloid or antimongoloid slant. Coarse features or low set ears. c) Ears: malformed d) Mouth and mandible: cleft lip and palate, micrognathia (receding mandible). Malformed ear Micrognathia d) Hands and feet: simian crease (single palmer crease) or semisimian, polydactyly (extra finger), clinodactyly (incurved little finger), syndactyly (fused fingers), gap between first and second toe. Polydactyly 2. Mental retardation: all children with unexplained mental retardation. 3. (sex can't be identified). 4. : Klinefelter (males) and Turner (short stature in a female )karyotyping). 76 1:700. lt is the most common autosomaltrisomy It is trisomy 2L: the cell contains 3 Chromosomes number 21, instead of 2 1. Non disjunction 2. Translocation 3. Mosaic Incidence 9570 4To lVo Mechanism The extra chromosome No:21 Non disjunction. Non disjunction in maternal is not present separately but it in mitosis meiosis is translocated to one of the Post fertilization. The pair of chromosomes No: chromosomes of : Occurs in early 21.failto disjoin) gamete with D srou p( 13,14,15)common lyl.4 mitotic division)2 24 chromosomes which when or G group (21,,22) cell lines, one with fertilized by normal gamete (23.The number of chromosomes in 45 and the other chromosomes), it results in such potient will be only 46 with 47 zygote with 47 chromosome in chromosomes but one of them chromosomes which 3 chro

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