Early manifestation of Ghosal-type hemato-diaphyseal dysplasia.
Ghosal-type hemato-diaphyseal dysplasia is a rare autosomal recessive disorder with distinctive diaphyseal and metaphyseal dysplasia of long bones and steroid-dependant anemia. The authors describe a 20-month-old girl who had had a severe transfusion-dependent anemia since late infancy and marked locomotion difficulties as a toddler. The diagnosis was established by X-ray bone survey. The anemia was treated with oral prednisolone. Since then, the patient has been doing well on steroid-maintenance therapy and has no more walking difficulties. The incidence of hemato-diaphyseal dysplasia in the Indian subcontinent and Middle East is notable.
Alebouyeh
Mardawig
M
Shahid Beheshti University of Medical Sciences, Department of Pediatric Hematology/Oncology, Shohada Medical Center Tajrish, Tehran, Iran. alebouyehm@yahoo.com
Vossough
Parvanch
P
Tabarrok
Firouz
F
D000740:Anemia / Q000150:complications* / Q000188:drug therapy; D003966:Camurati-Engelmann Syndrome / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D011239:Prednisolone / Q000008:administration & dosage; D011859:Radiography; D014965:X-Rays
D011239:Prednisolone