Paediatrics Marrow Pg 71-80 (Genetic Disorders)
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Questions and Answers

Which of the following is NOT a clinical feature of scurvy?

  • Irritability
  • Anemia
  • Gum bleeding
  • Hair loss (correct)

    • Vitamin C is primarily used for collagen formation and wound healing.

    True

    What dietary items are rich in Vitamin C that, if lacking, can lead to scurvy?

    Citrus fruits and green vegetables

    The recommended oral dosage of vitamin C for treating scurvy is _____ mg/day.

    <p>100 - 200</p> Signup and view all the answers

    Match the clinical features of scurvy with their descriptions:

    <p>Corkscrew hair = Characteristic hair change in scurvy Subperiosteal bleeding = Bleeding under the periosteum of bones Peripheral hemorrhage = Bleeding around hair follicles Frog leg posture = Posture adopted due to hip and knee pain</p> Signup and view all the answers

    What is the primary treatment for Type II Vitamin D Dependent Rickets (VDDR)?

    <p>High doses of vitamin D</p> Signup and view all the answers

    Burosumab is an older treatment method for rickets.

    <p>False</p> Signup and view all the answers

    What are the classic features of rickets?

    <p>Bone deformities, weakness, and delayed growth.</p> Signup and view all the answers

    Vitamin D dependent rickets is inherited in an ______ manner.

    <p>autosomal recessive</p> Signup and view all the answers

    Match the following types of rickets with their descriptions:

    <p>Type I VDDR = Defects in vitamin D activation, treat with Calcidiol Type II VDDR = Classic features of rickets with ectodermal defects Familial hypophosphatemic rickets = Normal calcium response CKD associated rickets = High serum phosphate levels</p> Signup and view all the answers

    Which gene defect is associated with Fragile X Syndrome?

    <p>FMR1</p> Signup and view all the answers

    Individuals with Angelman Syndrome typically have a higher IQ.

    <p>False</p> Signup and view all the answers

    What is another name for Angelman Syndrome?

    <p>Happy Puppet Syndrome</p> Signup and view all the answers

    Fragile X Syndrome is characterized by more than ______ CGG repeats.

    <p>200</p> Signup and view all the answers

    Match the following clinical features with their corresponding genetic disorders:

    <p>Large ears = Fragile X Syndrome Hypotonia = Angelman Syndrome Low IQ = Both Angelman Syndrome and Fragile X Syndrome Ataxia = Angelman Syndrome</p> Signup and view all the answers

    What is the most common acute complication of childhood infections?

    <p>Otitis media</p> Signup and view all the answers

    SSPE is a common complication that occurs in all children following a measles infection.

    <p>False</p> Signup and view all the answers

    What does vitamin A supplementation achieve in the management of childhood infections?

    <p>Decreases morbidity and mortality by 50%</p> Signup and view all the answers

    The diagnosis of fatal conditions following measles involves the presence of IgG anti-measles antibody in the _______.

    <p>CSF</p> Signup and view all the answers

    Match the following complications of childhood infections with their descriptions:

    <p>Otitis media = Most common acute complication Pneumonia = Most severe acute complication with increased mortality risk SSPE = Rare condition post-measles infection Myoclonic seizures = Clinical feature of latent complications</p> Signup and view all the answers

    What is the genetic defect associated with Prader-Willi Syndrome?

    <p>Chromosome 15q11 - 13</p> Signup and view all the answers

    Hypogonadism in Prader-Willi Syndrome can lead to delayed puberty.

    <p>True</p> Signup and view all the answers

    Name one clinical feature of Prader-Willi Syndrome.

    <p>Massive obesity</p> Signup and view all the answers

    The clinical feature associated with Prader-Willi Syndrome that involves a small jaw is called __________.

    <p>micrognathia</p> Signup and view all the answers

    Match the following clinical features with their descriptions:

    <p>Hypertelorism = Widely separated eyes Cleft lip/palate = A split or opening in the upper lip or roof of the mouth Hypercalcemia = Elevated calcium levels in the blood Elfin face = A facial phenotype characterized by a pixie-like appearance</p> Signup and view all the answers

    Which of the following diseases has the highest secondary attack rate?

    <p>Measles</p> Signup and view all the answers

    The incubation period for measles is between 10 to 15 days.

    <p>False</p> Signup and view all the answers

    What are Koplik spots?

    <p>Characteristic white spots surrounded by reddish hue usually opposite to the lower molar.</p> Signup and view all the answers

    The virus responsible for measles belongs to the family ______.

    <p>Paramyxoviridae</p> Signup and view all the answers

    Match the stages of measles with their features:

    <p>Prodromal Stage = Fever, cough, coryza, conjunctivitis Exanthem Phase = Koplik spots appear Exanthematous Phase = Maculopapular rash develops Isolation Period = 4 days before to 5 days after rash onset</p> Signup and view all the answers

    What is the most common cause of Down Syndrome?

    <p>Maternal meiotic non-disjunction</p> Signup and view all the answers

    Trisomy 21 is a type of aneuploidy caused by the presence of three copies of chromosome 21.

    <p>True</p> Signup and view all the answers

    Name one common facial feature associated with Down Syndrome.

    <p>Upslanting palpebral fissures</p> Signup and view all the answers

    A common hand feature in Down Syndrome is a single transverse palmar crease known as a _______.

    <p>simian crease</p> Signup and view all the answers

    Match the following features with their corresponding descriptions:

    <p>Brushfield spots = Light-colored spots in the iris Brachycephaly = Flat skull shape Clinodactyly = Curved little finger Sandal gap = Increased separation of the toes</p> Signup and view all the answers

    Which of the following characteristics is NOT associated with Patau Syndrome?

    <p>Web neck</p> Signup and view all the answers

    A key feature of Turner Syndrome is normal IQ.

    <p>True</p> Signup and view all the answers

    What karyotype is associated with Turner Syndrome?

    <p>45, X0</p> Signup and view all the answers

    In Patau Syndrome, the most commonly reported heart defects are _____.

    <p>VSD, PDA, ASD</p> Signup and view all the answers

    Match the following characteristics with the syndrome they are associated with:

    <p>Short stature = Turner Syndrome Holoprosencephaly = Patau Syndrome Lymphedema = Turner Syndrome Postaxial polydactyly = Patau Syndrome</p> Signup and view all the answers

    Which genetic disorder is associated with the loss of the 3rd and 4th pharyngeal pouches?

    <p>DiGeorge Syndrome</p> Signup and view all the answers

    Individuals with Klinefelter Syndrome typically have a higher level of testosterone.

    <p>False</p> Signup and view all the answers

    What gene defect is associated with Pseudo Turner Syndrome/Noonan Syndrome?

    <p>PTPN gene</p> Signup and view all the answers

    In Klinefelter Syndrome, individuals often present with _______ development due to hormonal imbalances.

    <p>breast</p> Signup and view all the answers

    Match the following syndromes with their key characteristics:

    <p>Klinefelter Syndrome = Taller stature, low testosterone, breast development DiGeorge Syndrome = Defective development of pharyngeal pouches Noonan Syndrome = Normal IQ in females, low IQ in males Williams Syndrome = Deletion at chromosome 7q11.23</p> Signup and view all the answers

    Which of the following is the most common cause of morbidity/mortality in genetic disorders?

    <p>Endocardial Cushion/atrioventricular septal defect</p> Signup and view all the answers

    Acute lymphoblastic leukemia (ALL) is the most common type of leukemia in children under 3 years old.

    <p>False</p> Signup and view all the answers

    What is a common external manifestation of Edwards Syndrome?

    <p>Rocker bottom feet</p> Signup and view all the answers

    A prominent occipital skull is a characteristic feature of _______ Syndrome.

    <p>Edwards</p> Signup and view all the answers

    Match the following internal manifestations with their corresponding conditions:

    <p>Ventricular septal defect = Endocardial Cushion defect Horseshoe kidney = Edwards Syndrome Patent ductus arteriosus = Endocardial Cushion defect Atrial septal defect = Edwards Syndrome</p> Signup and view all the answers

    Study Notes

    Scurvy

    • Vitamin C deficiency leads to collagen deficiency, affecting bone, skin, and blood vessels.
    • Scurvy is caused by inadequate Vitamin C intake from citrus fruits, green vegetables, and boiled/evaporated cow's milk.
    • Early symptoms include irritability, decreased appetite, anemia, and bleeding gums.
    • Characteristic signs include perifollicular bleeding and corkscrew hair.
    • Bone manifestations include subperiosteal bleeding, pain, and pseudo-paralysis (frog leg posture).
    • Diagnosis is mainly clinical; x-rays reveal subperiosteal hemorrhage and poorly formed bony trabeculae.
    • Treatment involves oral Vitamin C (100-200 mg/day) until lesions subside.

    Rickets & Scurvy

    • Rickets is a bone disorder caused by Vitamin D deficiency, leading to soft and weak bones.
    • Treatment for rickets includes phosphate supplementation (Joulie solution) and Burosumab (monoclonal antibody against FGF-23).

    Vitamin D Dependent Rickets (VDDR)

    • This autosomal recessive disorder is characterized by defects in vitamin D metabolism leading to hypocalcemia.
    • Classic features include rickets and ectodermal defects (milia, epidermal cysts, oligodontia, alopecia).

    Treatment for VDDR

    • Type I VDDR is treated with calcidiol (active form of vitamin D) and calcium supplements.
    • Type II VDDR is treated with high doses of Vitamin D to overcome resistance and improve symptoms.

    Approach to Refractory Rickets

    • Biochemical values help diagnose refractory rickets:
      • High Serum PO3−4PO_3^{−4}PO3−4​ suggests CKD associated rickets.
      • Low Serum PO3−4PO_3^{−4}PO3−4​ suggests renal tubular acidosis or PTH deficiency.
      • High response of Serum PO3−4PO_3^{−4}PO3−4​ to decreased calcium levels suggests VDDR.
      • Normal response of Serum PO3−4PO_3^{−4}PO3−4​ to decreased calcium levels suggests Familial hypophosphatemic rickets.

    Angelman Syndrome

    • Also known as Happy Puppet Syndrome.
    • Caused by a deletion of the maternal allele or disomy of the paternal allele on chromosome 15 q 11 - 13.
    • Characterized by neurological features (increased seizure incidence), hypotonia, low IQ, speech defects, and abnormal movements of hands and feet (ataxia).

    Trinucleotide Repeat Disorders (TRD)

    Fragile X Syndrome

    • Caused by an expansion of CGG repeats in the FMR1 gene.
    • Features include large ears, long face, prominent chin, macroorchidism (large testes) after puberty, and behavioral abnormalities (ADHD, autism).
    • Other associations include connective tissue defects, low IQ, hyperextensive joints, high arched palate, and mitral valve prolapse.

    Genomic Imprinting Disorders

    Prader-Willi Syndrome

    • Characterized by a deletion or disomy on chromosome 15q11-13.
    • Prominent features include massive obesity, short stature, small hands and feet, small eyes, and hypogonadism.
    • Other clinical features include:
      • Thin upper lip
      • Small jaw
      • Hypertelorism (widely separated eyes)
      • Low-lying notched ears
      • Elfin face
      • Hypercalcemia
      • Prominent forehead
      • Puffiness of eyes and cheeks
      • Wide mouth
      • Cardiac conotruncal defects (Tetralogy of Fallot)
      • Abnormal face
      • T-cell deficiency (due to absence of thymus)
      • Cleft lip/palate
      • Hypocalcemia (due to PTH deficiency)
      • Heart defect: Supravalvular aortic stenosis
      • Low IQ, learning disabilities

    Childhood Infections

    Complications of Measles

    • Acute:
      • Most common: Otitis media
      • Most severe: Pneumonia (increased mortality risk) due to Giant cell/HECHT pneumonia or superimposed bacterial infection (Staphylococcus aureus/Streptococcus pneumoniae).
    • Chronic:
      • SSPE (Subacute sclerosing pan encephalitis) a rare complication (1:100,000).
    • Latent complications:
      • Occur 7-13 years after primary infection.
      • Characterized by myoclonic seizures, cognitive impairment, and personality changes.
      • Diagnosis involves detecting IgG anti-measles antibody in CSF.
      • Fatal condition despite immunomodulatory treatment.

    Management of Measles

    • Supportive treatment: adequate nutrition, antipyretics, and IV fluids.
    • Vitamin A supplementation: reduces morbidity and mortality by 50% (two doses 24 hours apart).

    Classification of Childhood Infections

    • Arranged based on historical importance:
      • 1st - Measles
      • 2nd - Scarlet Fever
      • 3rd - Rubella
      • 4th - Erythema Infectiosum
      • 5th - Roseola infantum/exanthema subitum

    Measles

    • Caused by the Paramyxoviridae (ss RNA virus).
    • Incubation period: 8-14 days.
    • Mode of spread: respiratory droplets.
    • Secondary attack rate: >90% (highly contagious).
    • Infectivity period/isolation period: 4 days before to 5 days after onset of rash.

    Clinical Features of Measles

    • Prodromal Stage (Day 1-3):
      • Fever (intensifies after rash appears).
      • Cough.
      • Coryza.
      • Conjunctivitis.
    • Exanthem (Internal Manifestation, Day 2-3):
      • Koplik spots: characteristic white spots surrounded by reddish hue usually opposite the lower molars.
    • Exanthematous Phase (External Manifestation, Day 4-8):
      • Maculopapular rash: starts behind ears/face and spreads downward to the trunk and extremities.
      • Leaves behind brownish pigmentation.
      • Increased fever intensity after rash appears.

    Genetic Disorders

    Aneuploidies

    • Abnormal number of chromosomes.
    • Example: Trisomies (presence of three chromosomes instead of a pair)

    Down Syndrome (Trisomy 21)

    • Most common Trisomy.
    • Pathogenesis:
      • Maternal meiotic non-disjunction (most common cause).
      • Translocation (+(14;21) or +(21;21)).
      • Abnormal pair of chromosome 21 with 3 others.
    • Frequency:
      • Trisomy 21: 95%
      • Translocation: 4%
      • Mosaic: 1%

    Chromosomal Abnormalities in Down's Syndrome

    • Facies:
      • Brushfield spots.
      • Upslanting palpebral fissures/Mongoloid slant of eyes.
      • Flat face.
      • Flat occiput.
      • Flat nose.
      • Epicanthal fold.
      • Mongoloid facies.
    • Skull:
      • Brachycephaly.
      • Redundant skin.
      • Open mouth with protruding tongue (due to hypoplastic mandible).
      • Low-set ears.
    • Limbs:
      • Palms: Simian crease (single transverse palmar crease).
      • 5th/Little finger: Clinodactyly (curved finger due to hypoplasia of phalanx).
      • Foot: Sandal gap (increased gap between 1st and toe).
    • Internal Manifestations:
      • Heart: Congenital Heart Defect (most common 40%).

    Internal Manifestations of Down's Syndrome

    • Heart: Bicuspid aortic valve/coarctation of aorta.
    • Kidney (50%): Horseshoe kidney.
    • Delayed puberty & Infertility in adulthood.

    Pseudo Turner Syndrome/Noonan Syndrome

    • Autosomal dominant inheritance (males and females affected).
    • Gene defect: PTPN gene on chromosome 12q24.
    • Features:
      • Normal IQ (Turner) vs. Low IQ (Noonan).
      • Streak ovaries (Turner) vs. both genders (Noonan).
      • Bicuspid aortic valve, Coarctation of aorta (both), Pulmonary stenosis (both), Cryptorchidism (male, Noonan).

    Klinefelter Syndrome

    This disorder is characterized by tall stature, reduced facial and axillary hair, breast development (gynecomastia), cryptorchidism, low testosterone, increased aromatase enzyme activity (testosterone to estrogen conversion),eunuchoid body habitus

    Microdeletion Syndromes

    • Deletions of tiny parts of chromosomes undetectable by karyotyping.
      • 22q11.2 deletion:
        • DiGeorge syndrome, characterized by defective development of the third and fourth pharyngeal pouches, resulting in thymus and parathyroid defects.
      • 7q11.23 deletion:
        • Williams syndrome.

    Patau Syndrome (Trisomy 13)

    • Characteristics:
      • Scalp defects: Aplasia cutis and microphthalmos.
      • Cleft lip and/or palate.
      • Dysplastic or malformed ears.
      • Clenched hands and polydactyly (extra fingers).
      • Undescended testes/cryptorchidism (male child).
      • Postaxial polydactyly.
      • Heart defects (80-90%): VSD > PDA > ASD.
      • CNS: Holoprosencephaly.
      • Absent/missing ribs.

    Turner Syndrome

    • Karyotype: 45, X0/monosomy X (57%) > mosaicism (29%) > Partial monosomy X (14%).
    • Gender: Female.
    • Clinical Aspects:
      • External Manifestations:
        • Short stature (< 145 cm).
        • Web neck.
        • Loose skin folds.
        • Normal IQ.
        • Lymphedema (foot, hand, neck, cystic hygroma).
      • Other Characteristics:
        • Low hairline.
        • Shield-shaped thorax.
        • Widely spaced nipples.
        • Shortened metacarpal IV.
        • Small finger nails.
        • Cubitus valgus (carrying angle > 135°).

    Edward's Syndrome (Trisomy 18)

    • Most frequent Trisomy.
    • External Manifestations:
      • Occipital or back part of skull prominent.
      • Dysplastic or malformed ears.
      • Microphthalmos (small eyes).
      • Short palpebral fissures (eyelid).
      • Short neck.
    • Internal Manifestations:
      • Congenital heart disease (CHD):
        • Ventricular septal defect (VSD).
        • Patent ductus arteriosus (PDA).
        • Atrial septal defect (ASD).
      • Horseshoe kidney.
    • Rocker bottom feet.

    Recurrence Risk of Down Syndrome

    • General risk: 1%.
    • Increased risk for mothers over 35: up to 4%.
    • Higher risk in parents with Robertsonian translocation.

    Translocation Types and Associated Risk

    TranslocationIn MotherIn Fathert(4; 21)10%5%t(21;21)100%100%

    Edwards Syndrome (Trisomy 18)

    • Other characteristics:
      • Internal Manifestations:
        • Congenital heart disease (CHD) (over 90%):
          • Ventricular septal defect (VSD)
          • Patent ductus arteriosus (PDA)
          • Atrial septal defect (ASD)
        • Horseshoe kidney.
      • External Manifestations:
        • Occipital or back part of skull prominent.
        • Dysplastic or malformed ears.
        • Microphthalmos (small eyes).
        • Short palpebral fissures (eyelid).
        • Short neck.
      • Rocker bottom feet.

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    Description

    Test your knowledge on the clinical features associated with scurvy and rickets. This quiz covers dietary sources of Vitamin C, treatment strategies, and the genetic aspects of related disorders. Challenge yourself on understanding the relevant connections and clinical manifestations.

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