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Paediatric Case Studies: Diagnosis and Management

Explore intriguing paediatric cases with complex medical histories & symptoms. Learn clinical analysis, investigations, and treatment approaches for each case study.

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Paediatric Case Studies: Diagnosis and Management

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  1. Paediatric interested cases K. KALUMBA MB ChB FCPI FRACP Consultant Paediatrician and Paediatric Haematologist SOUTH EAST MELBOURNE PAEDIATRICS. www.sempaediatrics.com.au

  2. C.M DOB: 06/12/2012. FEMALE Birth History Perinatal Issues RDS (prolonged): Oxygen therapy. ? Peak FiO2. IV antis Neonatal hypoglycaemia: lowest: 0.6mmol/L. IV Dextrose Deranged LFT Thrombocytopenia Cord blood gas not available • Ex: 39 +2 Weeks GA • Uncomplicated pregnancy • Emergency C/S for foetal distress and failure to progress • Apgar: 8, 9 • Bwt: 4580g (> 90th percentile). No records for Length and HC at birth

  3. What wrong with this baby ?

  4. Ongoing issues Clinical Laboratory Hypercalcemia Hypercalciuria Low PTH Normal TORCH serolgy Normal CUS • FTT (Wt: 4,2kg, 25th percentile) at 6 weeks of age • Subcutaneous nodules: below Rt breast and on the back

  5. Diagnosis ???

  6. Any suggestion ?

  7. John Hunter Hospital admission 29/01/13 – 06/02/13 Investigations Management Low calcium and Vit D diet formula: Locasol Repeat blood (CMP, VitD, PTH, LFT) every 2 weeks Dietician R/V • Skin biopsy: subcutaneous fat necrosis • Renal U/S: bilateral nephrocalcinosis

  8. GRH/ Seen in Morawa clinic Issues Any suggestion ? • Significant FTT • Unsettled when being handled • Wide AF • Gross motor and speech delay

  9. CASE 2

  10. GRH/ LL-x-ray

  11. GRH/ UL-x-ray

  12. Diagnosis

  13. What is this Place ?

  14. CASE 2 • Term baby, NVD, Apgar: 9, 9 • Uncomplicated pregnancy • Nil risk factor for sepsis • No significant FH • Noted to be bluish colour at birth • Normal cardio-vascular and respiratory examination • Sat: > 95% in RA • ??? Next steps

  15. Investigations • FBE: NAD apart from Hb: 210 (Ht: 60) • CRP: 11 • Chest-ray: normal • ECG: normal

  16. Any other investigations ??? • Blood gas • CO-Oximetry: methaemoglobin level: 24%

  17. NADH-requiring cytochrome b5 reductase

  18. Role of G-6-PD and cytochrome b5 reductase

  19. Role of cytochrome b5 reductase

  20. Congenital Methemoglobinemia • NADH-requiring enzyme diaphorase = NADH-cytochrome b5 reductase • Clinical-biochemical classification: • Type 1: most common but least debilitating: deficiency limited to RBC. Pt looks more blue than sick. Methemoglobin well tolerated if level < 25% of total Hb • Type 2 (10% of all cases): more pervasive and associated with a generalized systemic deficiency, mainly CNS. Death within few years of life • Type 3: identical to type 1 • Type 4: reduced cytochrome b5 reductase level.

  21. Be aware • Pt will methemoglobinemia typically: normal arterial blood gas (PaO2 related to amount of dissolved O2 in the blood, not Hb saturation) • Pulse oximetry: typical normal or falsely elevated: pulse oximeter measures light absorbance at 2 wavelengths (660 nm: oxyhemoglobin, 940 nm: deoxyhemoglobin). • CO-Oximeter: measures light absorbance at 4 different wavelengths: oxyhemoglobin, deoxyhemoglobin, carboxyhemoglobin, and methemoglobin: more accurate of oxygen saturation. • Hb electrophoresis: to exclude Hb M can cause congenital cyanosis (change in structures of alfa and beta chains that stabilize Hb in ferric state.

  22. CO-Oximetry

  23. Pulse Oximetry

  24. Diagnosis • NADH-cytochrome b5 reductase activity assays • Neonates have 60% of adults level, reach adult level by 2 – 3 months of age • Methemoglobin leads to leftward shift of O2-Hb dissociation curve • Family members to be tested (AR condition), but will have reduced enzyme activity, but not low enough to be symptomatic, but low threshold for acquired methemoglobinemia.

  25. Treatment • Methylene blue for severe methemoglobinemia: • Methylene blue + NADPH: leucomethylene blue that has non-enzymatic reduction of methemoglobin. • Ascorbic acid: directly reduce methemoglobin, but too slow if used alone • Hyperbaric oxygen and exchange transfusion if Methylene blue and ascorbic acid fail. Shonola S et al. Paediatrics 2003

  26. Methylene blue

  27. Case 3 • 12 years old boy • Non-specific chest pain for years, increasing during physical activities • BH, Dev, PMH, FH: NAD • Previous results review: persistent mild polycytaemia • Oxygen Saturation: 91 – 92% in RA, otherwise normal examination

  28. Physical findings

  29. Investigations • ??? • ??? • ???

  30. Investigations • Chest-x-ray: NAD • CO-Oximetry: NAD • HB electrophoresis • Serum erythropoietin • 2, 3 DPG level

  31. Anything Else ??? • CT Chest: multiple AV malformations in both lungs • ???

  32. Osler-Weber-Rendu Disease (HHT) • Rare AD (highly variable), affects blood vessels throughout the body leading to vascular dysplasia. 20% unaware of positive FH (Minimal lesions, 10% no bleeding). • Endoglin gene ENG Chr 9: type 1, Activin receptorlike kinase ALK1 Chr 12: type 2 • Both genes encode receptors for TGF-beta superfamily, critical role in formation of vessels • SMAD4 mutations also reported

  33. Diagnosis of HHT (Curacao criteria) • Epistaxis • Telenagiectasias • Visceral lesions • FH (A first-degree relative) • 3/4 criteria: definitive • 2/4: possible or suspected • < 2/4: unlikely

  34. Case 4 • Ex 36 weeks GA, SVD, Apgar 9. 9 • Maternal Crohn disease on Azathioprine • RDS: TTN • Neutropaenia at birth • 6 weeks review: persistent nasal discharge and Rt eye tearing, repeat FBE: ? Hepatomegaly, leucoerythroblastic PBF and monocytosis • ???

  35. Abdominal US

  36. Investigations • ??? • Abdominal US: hepatomegaly with extensive haemagioma • Skeletal survey • ? BMB • TFT: consistent with profound hypothyroidism (overproduction of iodothyronine deiodinase)

  37. Case 5 • 16 years old girl with vomiting for 2 days, non-bilious non-projectile vomiting 1 – 2 per day • Recurrent allergic dermatitis, multiple allergies • Post-traumatic left renal subscapular haemangioma 10/12 ago • U/E: Pot: 2.2, Chloride: 80, Bic: 40 • Ongoing recurrent profound hypokalaemia • ???

  38. Case 6 • 2 years old boy, previously well with Hb: 50 • ???

  39. Causes of anaemia

  40. Adaptation to anaemia

  41. Is there eminent risk to life ? ? Signs of end of organs failure

  42. Causes of anaemia Micronutrient deficiency Increased destruction Blood loss Bone marrow failure

  43. Case 7 • 5 years old girl with • Easy bruising • Recurrent epistaxis • Prolonged bleeding during laparoscopic appendicectomy • ???

  44. Understanding Haematology results in children

  45. Diagnosis of VWD in children Pre-analytic variable (difficulties of obtaining inactivated and uncontaminated cord blood Physiological increase of VWF following delivery In a study of full term normal infants: mean VWF levels: 1.53 iu/ml Day 1 of life, 1.07 iu/ml day 180 of life (Caution for diagnosis < 6/12 of age) Stress: elevation of VWF. Need of repeating the test Modified bleeding score for children available (Marcus et al, 2011)

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