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Gurmeet Singh, Reena Sood Department of Pediatrics and Department of Obstetrics and Gynaecology, Sh...

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Question
A 6 years female child (referred from orthopedics department for ruling out any metabolic disease)presented with progressive left genu valgum since last one year and proportionate short stature.There is past history of jaundice 8 months back for 6 days, mild grade undocumented pyrexia off & on (almost once every month) relieved by one day of antipyretics.There is no history of trauma or joint swelling or pain ever in the affected knee and elsewhere, no history of chronic diarrhoea/constipation. On examination she had severe pallor,abdominal distention, firm splenomegaly, coarse facies (? hemolytic),one cutaneous birth mark (? cafe au lait spot).Left genu valgum,compensatory scoliosis,Limblengths are equal,. Blood Investigations revealed pancytopenia, RF positive. PBF-RBCS are normocytic hypochromic,WBCs- no atypical cells. Ophthalmoscopy- no iridocyclitis.USG abdomen- firm 5cm splenoegaly, liver normal,no ascites. Bone marrow- erythroid hyperplasia with dyserythropoiesis. X ray left kneejoint shows growth arrest lines atlower end of femur and upper end of tibia,no joint destruction,no signs of scurvy or rickets, normal density. Xray spine shows scoliosis. Vertebral bodies are normal-no collapse or beaking. Xray wrist has 3 carpals and the epiphysis for the lower ends of radius and ulna are also visible. Can this hypersplenism & bony deformity be explained by a single diagnosis. what is the differential diagnosis and the further line of management.
Answer
Does the child have metabolic acidosis? Have the blood gases been done and what are the renal function tests? One would like to rule out RTA, Wilson's disease and hemolytic anemia and metabolic acidosis. Also get an ultrasound of the abdomen with colour doppler to look at the portal venous system. Back to All Questions

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