Concluded Case

2yrs female child presented with c/o bowing of both legs from 1yr of age. No h/o consagunity or sibling death or maternal risk factors for TORCH and other congenital infections. Normal birth,immunisation and development history. Attained milestones as per age. Negative for contact with TB and family history of hemoglobinopathies. On examination vitals stable, height less than 3rd centile,pallor present huge hepatosplenomegaly, a soft systolic murmur over mitral area, no widening of wrist, no rachitic rosary present, genu varum present with no tenderness over joints,slightly protruding tongue and depressed bridge of nose,cornea clear. Child had undergone treatment for rickets for 6months with weekly doses of vit D still no improvement rather complained of increase in leg bowing and unsteady gait. The child didnot have any neurodevelopmental regression. Xray wrist had 2 carpal bones with no metaphyseal splaying and fraying. Xray AP of lower limbs also had no features suggestive of rickets. Xray chest unremarkable. ALP level of 908U/L with normal calcium and phosphate level. Hb of 7.8gm% with microcytic hypochromic blood picture, no evidence of cytopenia. VBG unremarkable. Thyroid profile awaited. What are the D/ds possible and what to do next? Kindly opine. Thanks PS:Will attach necessary pics of investigations soon.

(Edited)

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Concluded answer

Sorry docs, the patient took LAMA before a final diagnosis could be reached and subsequently lost to followup.

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It looks more like a hematological disorder.first work up for anaemia. Get peripheral smear and hb electrophoresis done.also do thyroid profile bcz child tongue protruding has umbilical hernia.bowing of legs physiological till 2yrs.

You have to look for congenital metabolic diseases like hypophosphatemic rickets,VDRR.Plesse provide X Rays of limbs ,spine,and s.phosphate,s.alk.phosphatage.

morquios syndrome

Ruled out achondroplasia

Features of rickets plus Xray both knee and both wrist ap

Rickets

Rickets bone age less then chronological age

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Hb electrophoresis, skull xray lateral, metabolic disorder like Gaucher, Wilson in particular, chronic liver diseases.

Thank you doctor
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rena rickets hypophosphataemia

Serum phosphate normal and vbg shows no acidosis.
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