Hohoho Paediatrics Notes PDF

Wayne Hohoho Hohoho Paediatrics Notes Table of Contents 1. Approach to Symptoms........................................................................................................................ 3 Anaemia......................

Wayne Hohoho Hohoho Paediatrics Notes Table of Contents 1. Approach to Symptoms........................................................................................................................ 3 Anaemia.................................................................................................................................................... 3 Jaundice.................................................................................................................................................... 8 Fever & Rash........................................................................................................................................... 25 2. Approach to Disorders........................................................................................................................ 42 Growth & Development.......................................................................................................................... 42 Cerebral Palsy...................................................................................................................................... 42 Macrocephaly & Microcephaly........................................................................................................... 46 Neonatology............................................................................................................................................ 47 Prematurity......................................................................................................................................... 47 Apnoea in the Newborn...................................................................................................................... 49 Neonatal Sepsis................................................................................................................................... 50 Ophthalmia Neonatorum.................................................................................................................... 56 Respiratory Medicine.............................................................................................................................. 59 Asthma................................................................................................................................................ 59 Acute Bronchiolitis.............................................................................................................................. 66 Viral Croup / Laryngotracheobronchitis.............................................................................................. 69 Epiglottitis........................................................................................................................................... 71 Pneumonia.......................................................................................................................................... 74 Pertussis / Whooping Cough (百日咳)............................................................................................... 78 Cardiology............................................................................................................................................... 80 Congenital Heart Diseases.................................................................................................................. 80 Hypercyanotic Spell............................................................................................................................. 97 Infective Endocarditis (IE)................................................................................................................... 98 Acute Rheumatic Fever (ARF)........................................................................................................... 106 Kawasaki Disease.............................................................................................................................. 110 Scarlet Fever / Scarlatina.................................................................................................................. 115 Multisystem Inflammatory Disorder in Children (MIS-C)................................................................. 116 Neurology.............................................................................................................................................. 121 Status Epilepticus (SE)....................................................................................................................... 121 Febrile Seizure................................................................................................................................... 124 1  Wayne Hohoho Epilepsy............................................................................................................................................. 127 Meningitis......................................................................................................................................... 133 Endocrinology....................................................................................................................................... 140 Diabetic Ketoacidosis (DKA).............................................................................................................. 140 Congenital Hypothyroidism.............................................................................................................. 144 Gastroenterology.................................................................................................................................. 151 Acute Gastroenteritis (AGE).............................................................................................................. 151 Dysentery.......................................................................................................................................... 157 Intussusception................................................................................................................................. 162 Nephrology............................................................................................................................................ 165 Nephrotic Syndrome......................................................................................................................... 165 Nephritic Syndrome.......................................................................................................................... 170 Acute Kidney Injury (AKI).................................................................................................................. 176 Haemolytic Uraemic Syndrome (HUS).............................................................................................. 183 Urinary Tract Infection (UTI)............................................................................................................. 185 Haematology & Oncology..................................................................................................................... 188 Thalassaemia..................................................................................................................................... 188 Haemophilia...................................................................................................................................... 195 Immune Thrombocytopaenic Purpura (ITP)..................................................................................... 198 Acute Lymphoblastic Leukaemia (ALL)............................................................................................. 201 Tumour Lysis Syndrome (TLS)........................................................................................................... 206 Infectious Diseases................................................................................................................................ 209 Tuberculosis (TB)............................................................................................................................... 209 Dengue Viral Infections..................................................................................................................... 212 Melioidosis........................................................................................................................................ 218 Leptospirosis..................................................................................................................................... 221 2  Wayne Hohoho 1. Approach to Symptoms Anaemia Anaemia Causes Excessive intake of cow’s milk (>24 oz / 700 ml per day) Allergy to cow’s milk → occult GI blood loss Malabsorption syndromes – IBD, coeliac disease Lead poisoning → pica Haemolysis – sickle cell anaemia, G6PD deficiency Malaria Clinical features Symptoms Pallor Fatigue Irritability ↓ exercise tolerance Signs Tachypnoea, tachycardia → heart failure Prominent cheek bones Frontal bossing Dental malocclusion Splenomegaly Lymphadenopathy, hepatosplenomegaly – bone marrow disease Bruising, purpura Investigations FBC o MCV – microcytic, normocytic, macrocytic o Reticulocyte count  Low – ↓ RBC production  High – haemolysis, blood loss PBF o Macrocytosis – megaloblastic disease o Spherocytes – spherocytic anaemia, immune-mediated haemolytic anaemia o Sickle cells – sickle cell anaemia o Howell-Jolly bodies – asplenia o Blister, bite cells – G6PD deficiency o Target cells – IDA, haemoglobinopathies, thalassaemia o Parasites – malaria Iron studies Bone marrow aspirate – sideroblastic, aplastic, malignancy Thyroid function test – hypothyroidism BUSE/Cr – chronic renal disease → reduced EPO G6PD screening Hb electrophoresis – thalassaemia, sickle cell anaemia Coombs test – immune-mediated anaemia Osmotic fragility test – membrane defects 3  Wayne Hohoho Iron Deficiency Anaemia Findings ↓ Hb → trial of iron → increase Hb of 1 g/dl within 2-4 weeks (diagnostic) ↓ MCV ↓ serum iron, ↑ TIBC, ↓ ferritin Thalassaemias Findings β-thalassaemia trait – asymptomatic β-thalassaemia major – severe anaemia, ↑ reticulocyte count, bone marrow expansion α-thalassaemia carrier – asymptomatic α-thalassaemia trait – mild anaemia, microcytosis Haemoglobin H disease – moderate haemolytic anaemia, microcytosis, reticulocytosis, splenomegaly α-thalassaemia major – death Microcytic Anaemia Associated condition Lead poisoning – iron deficiency enhances absorption of lead Anaemia of Chronic Disease (Anaemia of Inflammation) Findings Microcytic / normocytic ↓ serum iron, ↓ TIBC ↑ ESR, ↑ CRP Associated conditions Systemic infections – HIV, osteomyelitis Autoimmune – SLE, IBD Malignancies Sideroblastic Anaemia Introduction Disorder of heme synthesis Acquired / hereditary Findings PBF – hypochromic, microcytic ↑ serum iron, ferritin, iron saturation (d/t iron overload) Red Cell Aplasia Causes Infections → transient mild anaemia Parvovirus B19 infection → erythema infectiosum → haemolytic anaemia Transient erythroblastopenia → temporary arrest of RBC production Chloramphenicol Chronic Renal Disease Complication EPO deficiency Leukaemia & Metastatic Malignancy Findings Bone marrow infiltration Normocytic anaemia, thrombocytopaenia, leucocytosis/leucopaenia PBF – blast cells Acquired Aplastic Anaemia Causes Postinfectious – hepatitis, EBV, parvovirus B19 Drugs – chloramphenicol, anticonvulsant, cytotoxic drugs, sulfonamides Toxins – benzene Radiation exposure Idiopathic 4  Wayne Hohoho Findings Anaemia, neutropaenia, thrombocytopaenia Bone marrow hypoplasia Megaloblastic Anaemia Findings Macrocytosis, hypersegmented neutrophils Causes Vitamin B12 deficiency Breast-fed infants of strictly vegetarian mothers Malabsorption of vitamin B12 – intrinsic factor deficiency, resection of ileum, inflammatory conditions Folate deficiency Infants fed with goat’s milk (low in folate) Decreased absorption – resection / inflammatory disease of small bowel Anticonvulsant drugs – phenytoin, primidone, phenobarbital Medications – methotrexate, trimethoprim Congenital Hypoplastic Anaemia (Diamond-Blackfan Anaemia) Findings Macrocytic anaemia, reticulocytopaenia Bone marrow examination – deficient/absent RBC precursors Fanconi Anaemia Introduction Primarily autosomal recessive inheritance Findings Pancytopaenia Foetal RBC - ↑ MCV, HbF Physical stigmata – thumb & radial anomalies, growth failure, short stature, skin findings (hyperpigmentation, café-au-lait spots, vitiligo) Renal, CVS, GI malformations Haemolytic Disorders Findings ↑ Reticulocyte count Icterus, splenomegaly, gallstones ↑ RBC distribution width, indirect bilirubin, urine urobilinogen, LDH ↓ Serum haptoglobin Haemoglobinuria Immune-Mediated Anaemia Findings Positive Coombs test PBF – spherocytes Intrauterine hydrops fetalis, severe jaundice Causes Isoimmune haemolytic anaemia (commonest cause of neonatal anaemia) o Rh incompatibility o ABO incompatibility Acquired autoimmune haemolytic anaemia o Immunologic dysfunction – HIV, lymphoma o Acute infection – usually viral o Drug-related – penicillin, cephalosporin o Idiopathic SLE Cold agglutinin disease – haemolysis after exposure to cold Sickle Cell Haemoglobinopathies 5  Wayne Hohoho Diagnosis Hb electrophoresis G6PD Deficiency Introduction RBC enzyme defect X-linked disorder Findings PBF – bite cells, blister cells, Heinz bodies Precipitating factors Oxidative injury due to: Infections Fava beans Oxidising drugs – sulfonamides, antimalarials, nitrofurantoin, nalidixic acid, chloramphenicol, methylene blue, vitamin K analogues Toxins – mothballs, large dose vitamin C, benzene Microangiopathic Haemolytic Anaemia Introduction Mechanical injury to RBC → fragmentation haemolysis Associated conditions DIVC TTP HUS Kasabach-Merritt syndrome Findings Fragmented RBC – schistocytes, helmet cells, spherocytes, burr cells Membrane Defects Findings Spherocytosis, elliptocytosis Anaemia, jaundice, splenomegaly Diagnosis Osmotic fragility test Acute & Subacute Blood Loss Findings Normal RBC morphology ↑ Reticulocyte count Fatigue, lightheadedness, tachycardia, dyspnoea, heart failure Source: Pediatric Decision-Making Strategies (2nd edition) 6  Wayne Hohoho Sources: Pediatric Decision-Making Strategies (2nd edition), Nelson Textbook of Pediatrics (19th edition) 7  Wayne Hohoho Jaundice Neonatal Jaundice Introduction Can be detected clinically when the serum bilirubin level rises above 85 μmol/L (5 mg/dl) Mostly d/t ↑ haemolysis Physiological (1/3rd newborns) – immaturity of hepatic excretory function May be mistaken with carotenemia – carrots, pumpkins Aetiology 2 weeks (Prolonged) Unconjugated Haemolytic Physiological Congenital disorders jaundice hypothyroidism ABO Prematurity Infection (UTI, incompatibility Breastmilk septicaemia, Rh jaundice meningitis) incompatibility Breastfeeding Breastmilk Pyruvate jaundice jaundice kinase Haemolysis Haemolysis deficiency (ABO, G6PD) Upper GI Polycythaemia obstruction – Haemorrhage impaired (bruising, enterohepatic haematoma) circulation Crigler-Najjar Galactosaemia syndrome Gilbert Septicaemia syndrome Conjugated TORCHES TORCHES Biliary atresia infections infections Choledochal (congenital) (congenital) cyst Neonatal hepatitis syndrome TORCHES infections Infection (UTI, septicaemia) Metabolic (alpha-1 antitrypsin deficiency, galactosaemia) Post-TPN Unconjugated vs Unconjugated hyperbilirubinaemia Conjugated hyperbilirubinaemia conjugated Fat soluble (able to cross BBB) Water soluble (cannot cross BBB) Presents normally in plasma Presents normally in bile Indirect Van den Bergh reaction Direct Van den Bergh reaction Clinical features: Clinical features: Dark stool Tea-coloured / dark urine Neurological manifestation (if Pale stool severe) 8  Wayne Hohoho o ABE – drowsiness, poor feeding, hypotonia followed by hypertonia, opisthotonus, torticollis o Kernicterus – athetoid CP, paralysis of upward gaze, sensorineural hearing loss o BIND – abnormal gait, fine tremors, fine & gross motor incoordination Risk factors Oxytocin during labour → swelling of RBC → reduced deformability of RBC Intestinal obstruction → polyhydramnios Delayed passage of meconium (Hirschsprung disease, cystic fibrosis) → ↑ reabsorption of bilirubin → ↑ enterohepatic circulation → ↑ unconjugated bilirubin Prematurity Inborn error of metabolism – vomiting, lethargy, poor feeding, failure to thrive Breast-fed infants o Breastfeeding jaundice (first few days) – ↓ caloric intake → ↓ intestinal motility to remove bilirubin from the body → ↑ enterohepatic circulation o Breastmilk jaundice (usually after 1 week) – β-glucuronidase in breastmilk deconjugates bilirubin in intestine → ↑ unconjugated bilirubin → serum reabsorption → ↑ enterohepatic circulation Haemolytic disorders o Isoimmune haemolytic disease – Rh, ABO incompatibility o Hereditary haemolytic disorders – RBC membrane defects (spherocytosis, elliptocytosis, infantile pyknocytosis, stomatocytosis, pyropoikilocytosis) Extravascular blood (cephalohaematoma, ecchymoses, occult haemorrhage, swallowed maternal blood) → breakdown of RBC → ↑ unconjugated bilirubin Congenital hypothyroidism → ↓ bilirubin conjugation → ↑ unconjugated bilirubin Risk factors for severe neonatal jaundice Prematurity Low birth weight Jaundice in first 24 hours of life Mother with blood group O or rhesus negative G6PD deficiency Rapid rise of total serum bilirubin Sepsis Lactation failure in exclusive breastfeeding High predischarge bilirubin level Cephalhaematoma / bruises 9  Wayne Hohoho Babies of diabetic mothers Family history of severe NNJ in siblings Assessment of Total serum bilirubin (TSB) – gold standard jaundice severity o Conjugated hyperbilirubinaemia – >2 mg/dl or >20% total serum bilirubin concentration Transcutaneous bilirubinometer (TcB) o Newer, non-invasive handheld device that measures amount of bilirubin in skin o If TcB >200 µmol/l (12 mg/dl) → TSB should be measured o Tends to overestimate or underestimate [bilirubin] compared to TSB Icterometer – screening tool for neonatal jaundice (non-invasive) Visual assessment (Kramer’s rule) o Based on assessment on extent & severity of yellow discolouration of skin o Performed by blanching skin with slight finger pressure & noting underlying skin colour o Clinically visible when [bilirubin] ~5-7 mg/dl (85-120 µmol/l) o Progresses from head to toe o Not reliable if on phototherapy Assessment 1. General condition – observe signs of bilirubin toxicity (during 1st week of components for life) jaundice a. Excessive weight loss Weight loss >7% of birth weight → ↑ risk of significant hyperbilirubinaemia b. Hydration status & breastfeeding adequacy 2. Acute bilirubin encephalopathy (ABE) assessment 10  Wayne Hohoho a. Term babies Serious consequences of NNJ – ABE, choreoathetoid cerebral palsy, hearing impairment, death Bilirubin-induced neurological dysfunction (BIND) score – assess severity & progression of ABE in severe NNJ b. Preterm babies Acute manifestations of bilirubin toxicity often subtle ABR – useful to detect & monitor progression of ABE in this group of babies Preterm babies with ABE tend to have more frequent apnoea 3. Blood tests No clinical benefit in doing full lab evaluation for severe hyperbilirubinaemia, except: o Early onset of jaundice (6 mg/dl/day (103 mol/L/day) o Jaundice below umbilicus (serum bilirubin 200-250 µmol/L) o Jaundice extending to soles of feet – urgent, may require exchange transfusion o Family history of significant haemolytic disease or kernicterus o Any unwell infant with jaundice, clinical signs/symptoms of sepsis o Prolonged jaundice >14 days TSB levels for phototherapy & exchange transfusion in babies ≥35 weeks POG: Risk factors for kernicterus – isoimmune haemolytic disease, G6PD deficiency, asphyxia, sepsis Start intensive phototherapy at TSB of 3 mg/dl (51 µmol/l) above the level for conventional phototherapy, or when TSB increasing at >0.5 mg/dl/hour (8.5 µmol/L/hour) AAP exchange transfusion (ET) guidelines for babies ≥35 weeks POG: o ET if baby shows signs of ABE, or if TSB ≥85 µmol/L (5 mg/dl) above ET levels 12  Wayne Hohoho o ET if TSB rises to ET levels despite intensive phototherapy o For readmitted babies without signs of ABE  If TSB is above ET levels, repeat TSB every 2-3 hours and consider ET if it remains above the levels after intensive phototherapy for 6 hours For babies 300 µmol/L o Early onset jaundice (first 24 hours) o Rapidly rising jaundice (>8.5 µmol/L/hour) If TSB continues to rise in infant receiving intensive phototherapy → haemolysis Failed phototherapy: o Defined as inability to observe a decline in bilirubin of 1-2 mg/dL (17-34 µmol/L) after 4-6 hours, or to keep bilirubin below the ET level o Use TSB o Give immediate ET if infant shows signs of ABE (hypertonia, retrocollis, opisthotonus, fever, high-pitched cry), or if TSB ≥5 mg/dl (85 µmol/L) above ET level o During birth hospitalisation, ET is recommended if TSB rises to these levels despite intensive phototherapy IV immunoglobulins (IVIG) o High-dose IVIG (0.5-1 gm/kg over 2 hours) → reduces the need for ET in Rh & ABO haemolytic diseases o Give ASAP in haemolytic disease with positive Coombs test, or where TSB is increasing despite intensive phototherapy o Dose can be repeated in 12 hours PRN o If ET is already indicated, IVIG should be given after ET Discontinuation of phototherapy: o When bilirubin 3 weeks in preterm baby) Causes Congenital hypothyroidism Acquired infections – UTI, meningitis, septicaemia Breastmilk jaundice Haemolysis 19  Wayne Hohoho Biliary atresia – early diagnosis is important! Choledochal cyst Neonatal hepatitis syndrome Biliary Atresia Introduction Destruction / absence of extrahepatic biliary tree & intrahepatic biliary duct o Commonest form is obliteration of entire extrahepatic biliary tree at/above porta hepatis (85-90%) Commonest cause of conjugated neonatal hyperbilirubinaemia Obliterative cholangiopathy divided into 2 major types: o Cystic – different types of choledochal cysts o Non-cystic (neonatal sclerosing cholangitis) – 2 types of biliary atresia (foetal & perinatal) Classically presents around 2-4 weeks Pathophysiology Foetal onset o Manifests at birth o Associated with other congenital anomalies (situs inversus, polysplenia, intestinal malrotation, complex congenital heart disease) within polysplenia spectrum (biliary atresia splenic malformation) Perinatal onset o Immune or infection-mediated process Classification Classification based on location: Type I – Common bile duct Type IIa – Common hepatic duct, with cystic structure found at porta hepatis Type IIb – Cystic duct, common hepatic duct & common bile duct Type III (90%) – Atresia of right & left hepatic duct to level of porta hepatis Neonatal hepatitis Differences between neonatal hepatitis & biliary atresia vs biliary atresia Neonatal hepatitis Biliary atresia Familial incidence ~20% Unlikely recur within same family 20  Wayne Hohoho More common in premature or Foetal-onset has ↑ incidence of SGA infants polysplenia syndrome Transient severe impairment of Persistently impaired biliary bile excretion obstruction with acholic stools Pigmented stools Non-pigmented stools Bile-stained fluid on duodenal No bile-stained fluid on duodenal intubation intubation Clinical features Symptoms Yellowish discolouration of skin / mucosa Cholestatic – pale, acholic stool, dark/tea-coloured urine Signs Jaundice Failure to thrive Hepatomegaly Splenomegaly – d/t portal hypertension Investigations Blood tests FBC - ↓ Hb (anaemia of chronic disease) LFT - ↑ TSB (predominantly conjugated), ↑ ALP, ↑↑GGT Coagulation profile - ↑ PT, ↓ vitamin K-dependent clotting factors (II, VII, IX, X) secondary to vitamin K deficiency Imaging Abdominal ultrasound o Detect abdominal polysplenia & vascular malformations (foetal- onset biliary atresia) o Gallbladder not visualised or microgallbladder o Dilatation of intrahepatic bile ducts o Triangular cord sign – cone-shaped fibrotic mass cranial to bifurcation of portal vein o Gallbladder ghost triad – atretic gallbladder 1 cm proximal to ampulla of Vater → reflux of pancreatic secretion into CBD, damage bile duct wall Complications Ascending cholangitis (Charcot’s triad) 22  Wayne Hohoho Classification Clinical features Symptoms Pale, acholic stool, dark urine Charcot’s triad: o Fluctuating jaundice o Colicky RHC pain o Intermittent fever with chills & rigor Signs Cholestatic jaundice (intermittent) Children: o RHC abdominal mass o Ascending cholangitis, pancreatitis Investigations Abdominal ultrasound, endoscopic ultrasound Radionuclide scan (TIBIDA / HIDA scan) Abdominal CT MRCP / ERCP Management Surgical excision of cysts with formation of Roux-en-Y anastomosis to biliary duct Liver transplantation – in severe case involving intrahepatic ducts 23  Wayne Hohoho Kernicterus Introduction Neurologic syndrome d/t unconjugated bilirubin deposition (TSB >20 mg/dl) in basal ganglia & brainstem nuclei 10% mortality, 70% long-term morbidity Pathophysiology [Unconjugated bilirubin] exceeds albumin-binding capacity of bilirubin → unconjugated bilirubin (which is fat-soluble) → cross BBB → deposited in basal ganglia (globus pallidus, subthalamic nuclei, hippocampus, substantial nigra), & can involve various cranial nuclei (CN III, VII, VIII) BBB is more permeable to bilirubin during: o Sepsis o Prematurity  Immature CNS & BBB  Lower albumin level  ↑ Risk of developing anoxia, hypercapnia, acidosis o Hypercapnia – respiratory acidosis ↑ bilirubin deposition in brain o Hyperosmolarity (dehydration) o Low albumin d/t displacing drugs – sulphonamide, diazepam Phases of Phase 1 kernicterus o Non-specific – stupor (drowsy), hypotonia, poor sucking Phase 2 o Hypertonia / spasticity of extensor muscles o Retrocollis & opisthotonus o Fever, fits Phase 3 o Disappearance of hypertonia (end of 1st week of kernicterus) Phase 4 o Seizure, coma, spasticity, deafness, mental retardation o Extrapyramidal (choreoathetosis, athetoid CP) may develop usually after 2 years → speech disturbance, facial grimacing, drooling, poor feeding o High frequency sensorineural hearing loss – d/t brainstem injury Clinical features Acute kernicterus (Reversible) Chronic kernicterus (Irreversible) Lethargy Dystonia Poor feeding Athetoid cerebral palsy Irritability Mental retardation Seizure Delayed motor skills Coma Learning difficulty Hypertonia Sensorineural hearing loss GERD Prevention Keep serum bilirubin level upper limb Quadriplegia All extremities involved, normal head / neck control Double hemiplegia All extremities involved, upper limb > lower limb Total body All extremities involved, no head / neck involved B) Physiologic classification Type Location of brain lesion Examples Spastic Corticospinal tract Spastic diplegia Spastic hemiplegia Spastic quadriplegia Dyskinetic / Extrapyramidal tract Choreoathetosis Athetoid Dystonia Ataxic Cerebellum (Extrapyramidal tract) C) Functional classification System Level of Characteristics performance Gross Motor I Patient can walk freely Function II Patient walks on their own with certain (slight) limitations 42  Wayne Hohoho Classification III Patient walks using ancillary equipment System (GMFCS) IV Patient can move on their own, but with certain limitations (can use wheelchair by themselves) V Patient not able to move on their own (transported by wheelchair by carer) Manual Abilities I Handles objects easily & successfully Classification II Handles most objects but with System (MACS) somewhat reduced quality or speed of achievement III Handles objects with difficulty; needs help to prepare or modify activities IV Handles limited selection of easily managed objects in adapted situations V Does not handle objects & has severely limited ability to perform even simple actions Causes Hemiplegic cerebral palsy (VIPS) Vascular causes Bleeding – AVM, head trauma, non-accidental injury, periventricular haemorrhage Thromboembolism – cyanotic heart disease, cardiac surgery, infective endocarditis Vasculitis – SLE Thrombosis – homocystinuria Infections Meningitis Brain abscess Herpes encephalitis Pressure effect Unilateral hydrocephalus Space-occupying Brain tumour lesion Quadriplegic cerebral palsy Antenatal (50%) Congenital cerebral malformations TORCHES infections Maternal substance abuse Inborn error of metabolism Prematurity & low birth weight Multiple pregnancy Pregnancy complications Perinatal (30%) Perinatal asphyxia Postnatal (20%) Meningitis, encephalitis Severe intraventricular haemorrhage with severe prematurity Hydrocephalus Non-accidental injury 43  Wayne Hohoho Diplegic cerebral palsy Extreme prematurity with periventricular leukomalacia Periventricular leukomalacia d/t to infection, ischaemia Sagittal sinus thrombosis d/t dehydration, hyperviscosity state Dyskinetic cerebral palsy Kernicterus (unconjugated hyperbilirubinaemia) Clinical features Type Clinical features Spastic Damage to corticospinal pathway Persistent primitive reflex Initial hypotonia Hypertonia (spasticity) Upgoing plantar reflex after 2 years old Scissoring of legs (spasticity of extensor / adductor muscle of lower limbs) Equinovarus deformity (dorsiflexion & inversion) Windswept deformity (ipsilateral internal rotation & adduction of hip joint, with external rotation & abduction of contralateral hip joint) Dyskinetic/ Kernicterus → damage to basal ganglia or extrapyramidal Athetoid pathway Constant involuntary movement o Athetosis – repetitive involuntary, slow, sinuous, writhing movements of arms, legs & hands o Dystonia – impairment of muscular tonus o Chorea – irregular movement, non-repetitive, more jerky & shaky o Choreoathetosis – combination of chorea & athetoid Poor postural control (floppiness) Delayed motor development Intellect relatively unimpaired, no seizure Ataxic Cerebellar dysfunction Hypotonia Poor balance Delayed motor development Uncoordinated & involuntary movement (rigidity, ataxic gait, obligatory tonic neck reflex) Impaired control of eye movement & depth perception Fine motor skill requiring coordination of eyes & hands Mixed Combination of different types Mixture of spastic & athetoid (commonest) Investigations Not necessary to establish diagnosis Formal hearing & visual assessment Hypercoagulability workup – if CT brain / MRI shows remote stroke 44  Wayne Hohoho Differential Muscular dystrophy diagnosis Spinal cord injury Leukodystrophy (progressive dystrophy) Management Rehabilitation o Physiotherapy – maintain full ROM, functions, prevent contractures o Speech therapy – oral training to control drooling External aids – orthoses, wheelchairs, special shoes, splinter Orthopaedics – to correct deformities Psychiatry – for psychological & social problems Spastic o Muscle relaxants – baclofen, benzodiazepine, dantrolene sodium, tizanidine o IM botulinum toxin A o Surgical – dorsal rhizotomy, tendon lengthening, osteotomy Dyskinetic o Benzodiazepine o Carbidopa, levodopa o IM botulinum toxin o Deep brain stimulation Ataxic o No specific treatment o Clonazepam, propranolol – to reduce tremor Complications Intellectual disability Epilepsy Orthopaedic disorders – hip subluxation, dislocation, foot deformities, scoliosis Speech impairment Hearing impairment Neuro-behavioural disorders Growth failure Aspiration pneumonia Source: Dr Maung Win (MBBS, MRCPCH), Doctrina Perpetua Guides on Clinical Paediatrics 45  Wayne Hohoho Macrocephaly & Microcephaly Causes of macrocephaly Causes of microcephaly Source: Dr Maung Win (MBBS, MRCPCH) 46  Wayne Hohoho Neonatology Prematurity Introduction Premature infants – 4% Triggers Cold, dry air Infection Exercise Smoke – smoke particles on clothes Dust, dust mites Animal dander Emotions GERD NSAID (aspirin) Clinical features Age >3 years Cough – at night Wheezing – during sleep or with triggers Shortness of breath Rapid breathing Chest tightness 59  Wayne Hohoho History taking Current symptoms o Frequency o Severity o Cough  Productive / dry  Diurnal variation – at night  Intermittent  Worsened by specific triggers Risk factors Previous & current medications Response to prior treatment Previous hospital admission Typical exacerbating factors Impact of asthma on lifestyle Allergy history Family history o Childhood-onset asthma o Atopic dermatitis o Allergic conjunctivitis, allergic rhinitis o Food & drug allergy Home & school environment Physical General examination examination o Agitation o Unable to speak o Sitting in tripod position o Sweating o Nasal polyp / hypertrophic turbinate o Tachycardia o Tachypnoea o Cyanosis o Eczema / dry skin Respiratory system o Accessory muscles use o Harrison’s sulci – indentation along 6th rib, always present o Subcostal recession – presents only during inspiration o Hyperinflated chest o Reduced chest movement o Hyperresonance o Rhonchi – inspiratory, expiratory o Prolonged expiratory phase o Decreased air entry Investigations Spirometry – children >5 years o FEV1 20% after bronchodilator Trial of asthma medication (ICS) for 3 months – children 9 ribs in PA view, >6 ribs in AP view) Differential Upper respiratory tract diagnosis Allergic rhinitis Foreign body aspiration Sinusitis Croup Epiglottitis Lower respiratory tract Bronchiectasis Bronchopulmonary dysplasia Chronic aspiration Cystic fibrosis Allergic bronchopulmonary aspergillosis Diagnosis of Probability-based approach, based on pattern of symptoms during viral asthma in children respiratory infections: 10 days symptoms (cough, wheeze, heavy breathing) during URTI Number of 2-3 per year >3 per year, or >3 per year, or exacerbations severe episodes severe episodes Interval symptoms No symptoms Occasional Cough and/or (between episodes cough or wheeze during or exacerbations) wheeze play / laughing / exercise Atopy or family Nil Nil Present history of asthma Low probability → consider other diagnosis Moderate probability → trial of low dose ICS for 3 months → assess High probability → trial of low-moderate dose ICS for 3 months → assess 61  Wayne Hohoho Management in children 1x/month affecting sleep, activity PEFR / FEV1 >80% Moderate Daytime symptoms daily persistent Nocturnal symptoms >1x/week Exercise induced symptoms Exacerbations >2x/month affecting sleep, activity PEFR / FEV1 60-80% Severe Daytime symptoms daily persistent Nocturnal symptoms daily Exercise induced symptoms Exacerbations >2x/month affecting sleep, activity PEFR / FEV1 93% Antipyretics Maintain nutrition & hydration o Small & frequent feed – for moderate respiratory distress o NG feeding – for those who refuse feeding o IV fluid – for severe respiratory distress, cyanosis, apnoea Nebulised 3% saline solution – ↑ mucus clearance Nasal suctioning, nasal saline drops – clear mucus If severe respiratory distress → high-flow nasal cannula (HFNC) and/or continuous positive airway pressure (CPAP) Pharmacotherapy Antibiotics – indicated for: o Recurrent apnoea o Possible septicaemia o Rapid deterioration o High WCC o Progressive infiltrative changes on CXR Inhaled steroids – no benefits Inhaled β2-agonist – NOT useful because no bronchospasm Complications Dehydration Aspiration pneumonia 68  Wayne Hohoho Secondary bacterial infection Recurrent apnoea Respiratory failure Bronchiolitis obliterans (rare) Macleod syndrome – hyperinflation at one side of lungs Prevention Monoclonal antibody of RSV (Palivizumab) – IM injection monthly Influenza vaccination (>6 months old) Sources: Paediatric Protocols for Malaysian Hospitals (4th edition), QuickNotes of Paediatrics, Doctrina Perpetua Guides on Clinical Paediatrics, Nelson Textbook of Pediatrics (21st edition), UpToDate Viral Croup / Laryngotracheobronchitis Introduction Viral inflammation of larynx, trachea & bronchi Syndrome characterised by barking cough, inspiratory stridor, hoarseness of voice & respiratory distress Occurs from 6 months-6 years Peak incidence at 2nd year of life Aetiology Parainfluenza virus types 1, 2, 3 – commonest (74% cases) RSV Influenza virus Adenovirus Enterovirus Measles, mumps Rhinovirus Mycoplasma pneumoniae, Corynebacterium diphtheriae – rare Pathophysiology Infection of nasal & pharyngeal mucosal epithelia → spreads to subglottic space → mucosal inflammation & oedema of subglottic area → narrowing of trachea → ↑ airway resistance & work of breathing → inspiratory stridor Clinical features History taking Preceded by upper respiratory symptoms (12-72 hours) o Low grade fever o Coryzal symptoms – rhinorrhoea, sore throat, nasal congestion Late symptoms o Inspiratory, harsh stridor o Barking cough – like sea lion, NOT dog o Hoarseness of voice o Respiratory distress Physical examination Signs of respiratory distress o Tachypnoea, tachycardia o Nasal flaring o Grunting o Head bobbing o Chest wall recessions (suprasternal, intercostal, subcostal) o Central cyanosis o Use of accessory muscles Poor air entry 69  Wayne Hohoho Expiratory rhonchi Severity Mild Stridor with excitement or at rest, with no respiratory distress assessment Moderate Stridor at rest with intercostal, subcostal or sternal recession Severe Stridor at rest with marked recession, ↓ air entry, altered level of consciousness Investigations Clinical diagnosis FBC o Lymphocytosis → viral cause o ↑ Neutrophils → bacterial infection Pulse oximetry – assess need for supplemental oxygen support (38°C) ESR >30 mm/h or 106  Wayne Hohoho Polyarthritis, aseptic CRP >30 mg/L monoarthritis or polyarthralgia Prolonged PR interval on ECG Sydenham chorea Erythema marginatum Subcutaneous nodules Clinical features Carditis – within 3 weeks of infection o Evidence of cardiomegaly, cardiac failure, pericarditis, tachycardia out of proportion to fever, pathological murmurs o Valvulitis (predominant manifestation) – evidence of MR or AR  MR – apical pansystolic murmur  ± AR – basal early-diastolic murmur  ± Carey-Coombs murmur – apical mid-diastolic murmur o Pericarditis (15% cases) – praecordial pain, pericardial friction rub Arthritis – earliest symptom of ARF (within 21 days) o Sites – large joints (knees, ankles, elbows, wrists), leg joints typically affected first o Several joints affected, each joint inflamed for 1-2 days to 1 week o Migratory polyarthritis o Dramatic response to aspirin & NSAIDs  If no response → consider post-streptococcal reactive arthritis Sydenham chorea – 1-8 months after infection o Site:  Frequently more marked on one side, occasionally unilateral (hemichorea)  Head – face resembles grimaces, grins, frowns  Tongue – resembles “bag of worms” when protruded, protrusion cannot be maintained o Precipitated by – purposeful movements o Relieved by – sleep Erythema marginatum – commonly occurs with carditis o Evanescent, pink or faintly red, non-pruritic rash o Pink border with fading centre o Sites – trunk, limbs, not face o Precipitated by – warmth Subcutaneous nodules – usually occurs with relatively severe carditis o Painless pea-sized hard lesions from few mm to 2 cm o Sites – extensor surfaces of large & small joints, scalp, spine o Characteristically resolve after 1-2 weeks 107  Wayne Hohoho Others o Fever o Tachycardia  Out of proportion to fever  Sleeping HR ↑ o Abdominal pain o Epistaxis o Lethargy Physical Vital signs examination o Fever >38°C o Tachycardia Carditis o Valvulitis – MR, AR, Carey-Coombs murmurs o Pericarditis – pericardial friction rub, muffled heart sounds (pericardial effusion) o Heart failure – ↑ JVP, hepatomegaly, bibasal crepitations, ankle oedema Arthritis o Look for redness, swelling in large joints o Feel for tenderness o Limited ROM if severe Sydenham chorea o Diffuse hypotonia & muscle weakness o Spooning hand sign o Milkmaid’s grip sign o Pronator sign o Bag-of-worms tongue (involuntary, nonrhythmic movements) Erythema marginatum Subcutaneous nodules Spooning hand sign Milkmaid’s grip sign Pronator sign Bag-of-worms tongue 108  Wayne Hohoho Investigations Investigation Description FBC Anaemia – d/t chronic inflammation Leucocytosis ESR >30 mm/hr CRP >30 mg/L Throat swab culture Positive for group A β-haemolytic streptococci Antistreptococcal Anti-streptolysin O titre ↑ antibodies Anti-DNAse B Anti-streptokinase Anti-hyaluronidase Rapid streptococcal Positive antigen test CXR Check for heart failure ECG Prolonged PR interval Echocardiography Mitral & aortic valves affected X-ray of joints For affected joints Management Aims 1. To suppress inflammatory response to minimise cardiac damage 2. Provide symptomatic relief 3. Eradicate pharyngeal streptococcal infection Anti-streptococcal therapy o IV C Penicillin 50000 U/kg/dose 6-hourly OR oral Penicillin V 250 mg 6-hourly (30 kg) for 10 days o If allergic to penicillin → oral Erythromycin for 10 days Anti-inflammatory therapy o Mild / no carditis: Oral Aspirin 80-100 mg/kg/day in 4 doses for 2-4 weeks, tapering over 4 weeks o Pericarditis, or moderate to severe carditis: Oral Prednisolone 2 mg/kg/day in 2 divided doses for 2-4 weeks, taper with addition of aspirin as above Anti-failure medications o Diuretics, ACE inhibitors, digoxin (use with caution!) Supportive management o Bed rest, restrict activity until ESR/CRP ↓ to normal o Fever, arthritis, arthralgia – aspirin, NSAIDs o Chorea – quiet nonstimulative environment, anticonvulsants (if ADL affected) SBE prophylaxis – for pre- & post-surgical procedures Secondary prophylaxis Drugs: 109  Wayne Hohoho o IM Benzathine Penicillin 0.6 mega units (30 kg) every 3-4 weeks o Oral Penicillin V 250 mg twice daily o If allergic to penicillin → oral Erythromycin 250 mg twice daily Duration: o Until age 21 years old, or 5 years after last ARF attack o Lifelong for patients with carditis & valvular involvement Complications Short-term Congestive heart failure – d/t valvular dilatation Long-term Rheumatic heart disease – commonest Jaccoud arthropathy o No articular erosions on x-ray o No functional impairment Recurrent ARF Sources: Paediatric Protocols for Malaysian Hospitals (4th edition), Doctrina Perpetua Guides on Clinical Paediatrics, ClinicalKey Kawasaki Disease Introduction Acute systemic inflammatory / vasculitis disease Unknown aetiology, possible bacterial toxin or viral agents Affects 38.5°C lasting at least 5 days At least 4 out of 5 of the following: Rash o Polymorphous exanthem, never vesicular or bullous o Usually, truncal Bilateral conjunctivitis o Painless hyperemia, non-suppurative o Anterior uveitis can be present in the first week of illness Changes in lips and oral mucosa o Erythema, dry and cracking of lips, strawberry tongue, diffuse injection of oral and pharyngeal mucosa Cervical lymphadenopathy o >1.5 cm in diameter, unilateral (usually) or bilateral Changes in extremities o Acute – erythema and oedema of hands and feet o Convalescent – skin desquamation of tip of fingers and toes 110  Wayne Hohoho Clinical manifestations Clinical course 1. Acute phase (lasting 7-14 days) Characterised by fever & inflammatory changes 2. Subacute phase (day 10-25 after onset) Fever, rash & lymphadenopathy resolved Irritability, anorexia & conjunctivitis persist Thrombocytosis is common 3. Convalescent phase (6-10 weeks after onset) Begins when all clinical signs disappear Until acute phase reactants normalised Clinical pearls CVS o Tachycardia, gallop rhythm, murmur of MR/AR o Angina pectoris, signs of heart failure o Aneurysms of peripheral arteries o ECG changes – arrythmias, prolonged PR interval, abnormal ST segments, abnormal T wave/Q wave changes o Echo – pericardial effusion, ↓ contractility, myocarditis, valvular regurgitation, coronary diltation, aneurysm 111  Wayne Hohoho Respiratory system o Cough, rhinorrhoea o CXR – cardiomegaly, pulmonary infiltration, pulmonary oedema Skin & joint o Perineal rash, excoriation, desquamation o Induration & erythema of BCG scar o Beau’s line in nail during 2nd week o Arthralgia, arthritis CNS o Irritability, inconsolable crying o Aseptic meningitis o Altered mental status o Facial palsy or mononeuritis (rare) GI o Diarrhoea, vomiting, abdominal pain, hydrops of gallbladder o Mild jaundice, mild transient ↑ transaminase o Paralytic ileus Renal o Sterile pyuria (common) o Proteinuria Incomplete Should be considered and treated if: Kawasaki disease o Prolonged unexplained fever with 7 days ± irritability without other explanation o Prolonged fever and unexplained aseptic meningitis, shock + abnormal investigation results & coronary artery disease by echo Higher risk of coronary artery dilatation / aneurysm Echo must be done if patients have prolonged fever with: o 2 other criteria o Subsequent unexplained desquamation of tip of fingers and toes o 2 other criteria + thrombocytosis o Rash without any other explanation 112  Wayne Hohoho Atypical Kawasaki Atypical presentation like renal impairment disease Differential Prolonged fever with conjunctivitis, rash and unwell: diagnosis Streptococcal/staphylococcal toxin-mediated diseases – scarlet fever, TSS Measles, adenovirus infection Drug reaction – Steven-Johnson syndrome Leptospirosis Rickettseal infection, Yersinia infection (rare) Autoimmune diseases – SLE, JIA, IBD Multisystem inflammatory syndrome in children (MIS-C d/t COVID-19) Investigations Investigation Description FBC Acute – leucocytosis, mild anaemia (MCHC) Subacute – thrombocytosis ESR / CRP ↑ LFT Hypoalbuminaemia 10 WBC/hpf Lumbar puncture Sterile CSF pleocytosis CXR ECG Check for cardiac involvement Echo Check for complications – coronary artery aneurysm, ↓ LV function, valvular regurgitation, pericardial effusion Do in acute phase → repeat at 2-3 weeks 113  Wayne Hohoho o If both normal → repeat at 6-8 weeks → PRN Management Goals of therapy: 1. Prevent cardiovascular complications 2. Decrease acute inflammatory process 3. Prevent platelets activation IV immunoglobulin (IVIG) – primary treatment within first 10 days o Given during acute phase – ↓ risk of coronary aneurysm o Dose 2 g/kg as single dose, infuse over 10-12 hours (start at very low infusion rate, increase gradually) o Monitor temperature, PR & RR o Side effects – chills & rigor, hypotension, anaphylaxis, blood-borne infections (from donors) Aspirin (Acetylsalicylate) o Acute phase – used for anti-inflammatory & anti-pyretic effects  High dose 30-50 mg/kg, 3 divided doses with meals (until afrebile for 2-3 days, or not more than 2 weeks of illness) o Subacute / convalescent phase – for anti-platelets effect  Low dose 3-5 mg/kg as single dose with meal for 2 months if no coronary disease, or until ESR & platelet count normalised  If high ESR or coronary aneurysm → continue until resolves o Side effects – allergy, gastritis, GI bleed, chronic salicylism, Reye’s syndrome o If allergic to aspirin → use dipyridamole 1-2 mg/kg/dose TDS Steroid (controversial) o Reserved for persistent refractory Kawasaki disease after 2nd dose of IVIG o Dose:  Methylprednisolone 30 mg/kg/day as single infusion over 2-3 hours for 1-3 days  Oral prednisolone 2 mg/kg/day for 2 weeks, then wean down slowly over 2 weeks o Side effects – weight gain, cataract, glaucoma, water retention, osteoporosis, hirsutism, easy bruising, acne, hypertension, stomach irritation Cushing syndrome Other supportive measures o A, B, C o Anti-pyretic o IV hydration o Parent education – long-term follow-up Refractory Persistent or recrudescent fever >36 hours after initial IVIG Kawasaki disease If unresponsive to 1st dose → give 2nd dose of IVIG after 36-72 hours of initial IVIG If unresponsive to 2nd dose → steroid 114  Wayne Hohoho Other medications – cyclosporine, cyclophosphamide, methotrexate, infliximab, plasmapheresis Vaccinations Use of IVIG may impair efficacy of live-attenuated virus vaccines Delay these vaccinations for at least 11 months Prognosis 1. Complete recovery without coronary disease 2. Coronary artery aneurysm (ectasia / dilatation) Small 3-5 mm → 80% resolved Medium 5-8 mm → 30% resolved Giant >8 mm → worst prognosis, ischaemia later 3. Mortality (1-2%) from cardiac complications Risk stratification & Follow ups Long-term management & follow-up depends on degree of coronary artery involvement Sources: Dr Maung Win (MBBS, MRCPCH), Paediatric Protocols for Malaysian Hospitals (4th edition) Scarlet Fever / Scarlatina Introduction Caused by Group A β-haemolytic Streptococci producing erythrogenic exotoxin Spread by droplets School-going age – 5-15 years Infection peaks in cold climates Incubation 2-4 days post-streptococcal pharyngitis Clinical features Fever >38°C with chills & rigor Headache, sore throat, nausea & vomiting Cervical lymph nodes enlargement White strawbery tongue (white coating, red papillae) Flushed cheeks with circumoral pallor 115  Wayne Hohoho Erythematous, coarse rash commencing on neck, spreading to the rest of the body – sandpaper-feel, blanchable Face, skin folds, palms, soles usually involved Dark red lines in skin creases – Pastia’s line Desquamation after few days Differential Kawasaki disease diagnosis Viral exanthem Contact dermatitis Drug eruption Investigations FBC – leucocytosis, normal platelets & Hb Anti-streptolysin titre (ASOT) – usually >200 Throat swab culture & rapid antigen detection test Blood culture BUSE/Cr Management Treat symptoms – fever, sore throat Hydration Oral Penicillin V for 10 days o Macrolide if penicillin allergy Complications Acute rheumatic fever Acute glomerulonephritis Cellulitis, mastoiditis, sinusitis Pneumonia Meningitis Source: Dr Maung Win (MBBS, MRCPCH) Multisystem Inflammatory Disorder in Children (MIS-C) Introduction Complication of COVID-19 infection (30 mins → long-term consequences (neuronal injury, alteration of neuronal networks, neuronal death) Classification Simplified from ILAE 2015 o Convulsive SE – seizures with prominent motor symptoms o Non-convulsive SE (NCSE) – seizures on EEG only o Focal motor SE Management Supportive care ABCs o Airway & breathing  Open & maintain airway – positioning (head-tilt/chin-lift), jaw thrust, and/or airway adjuncts (nasopharyngeal / oropharyngeal airway)  Suction secretions  Administer 100% oxygen  Continuous cardiorespiratory monitors & pulse oximetry  Intubation & ventilation – if airway / gas exchange compromised, ↑ ICP, seizures persist >30 mins o Circulation  Establish IV access  If hypotension → haemodynamic support Treat hypoglycaemia & electrolyte abnormalities o Hypoglycaemia – IV dextrose 0.25-0.5 g/kg o Hyponatraemia – 3% saline infusion 3-5 ml/kg over 15 mins o Hypocalcaemia – IV 10% calcium gluconate Temperature control o Give PCM 15 mg/kg o Cooling measures Identify & treat underlying cause o Infectious & autoimmune encephalitides, traumatic / hypoxic injuries, sepsis, meningitis, structural brain lesion Emergency antiseizure treatment 1. 1st therapy (benzodiazepines) – impending SE Benzodiazepine Description Diazepam Rapid effect onset – as early as 10-20 secs Shorter duration – usually 2 seconds Differential “3-year-old child presents with fever for 4 days, and 2 episodes of seizure on diagnosis admission” Febrile seizure Electrolyte imbalances – hypoglycaemia, hypocalcaemia, hypomagnesaemia, hypo/hypernatraemia 135  Wayne Hohoho Toxin ingestion, accidental intake of drugs Encephalitis Space-occupying lesion Investigations Blood tests FBC & differential count – Hb, MCH, MCV (anaemia), WCC (infection) ESR/CRP – inflammation Renal profile – hydration status, electrolyte imbalance (hypo/hypernatraemia) Serum Ca, Mg & PO4 – hypocalcaemia & hypomagnesaemia can cause seizures LFT/CP – nutritional status, liver impairment, coagulopathy, baseline before starting antiepileptic drug Hypocount – hypoglycaemia ABG – metabolic acidosis Toxicology screen – if suspect drug exposure Lumbar puncture FEME (WBC, PMN, lymphocyte), biochemistry (protein & glucose), Gram- staining, C&S, AFB (if suspect TB), latex agglutination o Viral – clear, ↑↑ lymphocytes, ↑/normal protein, ↓/normal glucose o Bacterial – turbid, ↑↑ polymorphs, ↑↑ protein, ↓↓ glucose o Partially-treated bacterial – cloudy, polymorphs & lymphocytes o Contraindicated in:  Cardiorespiratory instability  Focal neurological signs  Signs of ↑ ICP  Coagulopathy  Thrombocytopaenia  Local infection at site if lumbar puncture Culture & sensitivity – blood, CSF, urine Rapid antigen screen / PCR – virology screening CXR, Mantoux test – if suspect TB CT brain – indicated in: o Prolonged depression of consciousness o Prolonged focal or late seizures o Focal neurological abnormalities o Enlarged head circumference o Suspected subdural effusion / empyema 136  Wayne Hohoho Management Dexamethasone – decrease sequelae of bacterial meningitis Antibiotic according to likely pathogen: Age Group Initial Likely Organism Duration Antibiotic (if uncomplicated) 3 months C Penicillin + H. influenzae 7-10 days Cefotaxime, Strep. pneumoniae 10-14 days OR N. meningitidis 7 days Ceftriaxone Review antibiotic choice when infective organism has been identified If Streptococcal meningitis, check MIC values of antibiotics: MIC level (mg/l) Drug of choice MIC 11 mmol/L (>200 mg/dL) o Metabolic acidosis – venous pH 2+ Late presentation of type 1 DM, but can also occur in type 2 DM Epidemiology Type 1 DM frequently presents at diagnosis of DKA Precipitating Poor metabolic control / missed insulin doses factors Illness o ↑ stress hormones (glucagon, catecholamines, cortisol)  → ↑ hepatic glucose output  → peripheral insulin resistance  → promote ketogenesis Medications o Corticosteroids, atypical antipsychotics, tacrolimus, L-asparaginase, diazoxide Drugs & alcohol o Drugs & alcohol may interfere with adherence Clinical features Clinical manifestation Pathophysiology Signs & symptoms Polyuria, polydipsia Glycosuria → osmotic diuresis → Nocturia, enuresis (bedwetting) polyuria → dehydration → Dehydration, weight loss – polydipsia weight loss corresponds to level of dehydration Polyphagia ↓ intracellular glucose Ketone breath (fruity odour) Accumulation of acetone in blood → excretion via respiration Kussmaul breathing (deep, fast) Hyperventilation to offset acidosis Abdominal pain Metabolic acidosis → disrupts Nausea, vomiting enteric nervous system → ↓ gastric emptying, ileus Tiredness ↓ glucose Diaper rash Vaginal, cutaneous candidiasis Confusion Metabolic acidosis → disrupts Coma electrical signaling in CNS Dehydration → ↓ perfusion to CNS Physical examination Hypovolaemia o Tachycardia o ↓ JVP o CRT >2 sec o Dry mouth o Weak pulse o ↓ Skin turgor o Cold extremities 140  Wayne Hohoho Investigations Investigation Description FBC Look for evidence of infection Blood glucose >11 mmol/L HbA1c Check for glucose control Blood ketones >3.0 mmol/L – to confirm ketoacidosis & monitor (β-hydroxybutyrate) treatment progress BUSE/Cr ↑ urea – dehydration ↑ creatinine – AKI ↓ Na+, K+ – vomiting, osmotic diuresis Plasma osmolality ↑ VBG Severe metabolic acidosis (↑ anion gap) o pH 2 weeks o Azotaemia >3 weeks o Gross haematuria >3 weeks o Persistent proteinuria >6 months Management Confirm the diagnosis Strict monitoring of I/O chart, daily weight, BP & other vitals Penicillin V for 10 days – to eliminate β-haemolytic streptococcal infection o If penicillin allergy → erythromycin Supportive therapy for PSGN: o Dietary sodium restriction o Diuretics – treat hypertension & pulmonary oedema o Antihypertensive agent Fluid restriction of 400 ml/m2/day – to reduce oedema & circulatory overload especially during oliguria Look out for complications of PSGN: o Hypertensive encephalopathy usually presenting with seizures o Pulmonary oedema o Acute renal failure ACE-I may reduce proteinuria & glomerular hyperperfusion, but used with caution in setting of acute kidney injury & hyperkalaemia Hyperkalaemia – IV calcium gluconate, IV insulin + dextrose Follow-up: 172  Wayne Hohoho o Follow up at least 1 year o Monitor BP every visit o Urinalysis & RFT – to evaluate recovery o Repeat C3 levels 6 weeks later if not normalised Natural history Complications Severe hypertension Pulmonary oedema Hypertensive retinopathy Hypertensive encephalopathy Rapidly progressive GN Chronic renal failure Henoch-Schönlein Purpura (HSP) Nephritis Introduction Classic tetrad: o Rash o Abdominal pain o Arthritis / arthralgia o Glomerulonephritis (20-55%) Affects small vessels Commonest vasculitis of childhood Predominantly 3-15 years, 50% 200 mg/mmol (3.5 mg/mg) Serum albumin Hypoalbuminaemia (5 years – to maintain average Hb levels Preparation for splenectomy: o Pneumococcal & HiB vaccinations 4-6 weeks prior to splenectomy o Penicillin prophylaxis for life after splenectomy o Low dose aspirin (75 mg daily) if thrombocytosis >800,000/mm3 after splenectomy 5. Diet & supplements Oral folate at minimum 1 mg daily Low dose Vitamin C at 3 mg/kg augments iron excretion if on Desferal only o Dose: 10 years 100 mg daily Vitamin E supplementation – to reduce platelet hyperactivity & reduce oxidative stress Calcium & zinc Avoid iron-rich foods (red meat, iron-fortified cereals, milk) Tea – helps ↓ intestinal iron absorption 6. Bone marrow transplantation Potential curative – when there is HLA-compatible sibling marrow donor Classification of patients into Pesaro risk groups based on: o Hepatomegaly >2 cm o Irregular or inadequate iron chelation therapy o Presence of liver fibrosis Class I – none; class II – 1 or 2; class III – all 3 Best results if performed at earliest age possible in Class I patient 7. Antenatal diagnosis By chorionic villous sampling at 9-11 weeks period of gestation 8. Support groups 194  Wayne Hohoho Various states & local Thalassaemia Societies o Provide support & education for families o Organises thalassaemia-related activities & awareness campaigns Sources: QuickNotes of Paediatrics, Doctrina Perpetua Guides on Clinical Paediatrics, Paediatric Protocols for Malaysian Hospitals (4th edition) Haemophilia Introduction Group of bleeding disorders d/t coagulation factor deficiency X-linked recessive inheritance, but 30% cases are sporadic mutation Predominantly affects males Commonest haemophilias: o Haemophilia A – deficiency of factor VIII (85% cases) o Haemophilia B – deficiency of factor IX (15% cases) Classification Classification of haemophilia & clinical presentation Factor level Classification Clinical presentation 6 months) o 10-20% acute ITP → persistent / chronic ITP Classification Primary ITP Absence of other causes / disorders that may be a/w (commonest) thrombocytopaenia Newly diagnosed ITP – within 3 months from diagnosis Persistent ITP – betwee