Ghosal haematodiaphyseal dysplasia: a new case

Ghosal-type hematodiaphyseal dysplasia has been first described in 1986, as a steroid-dependent anemia with endosteal broadening of the long bone's diaphyses and metaphaphyses, which makes a distinction with the periosteal reaction in Camuratti-Engelmann's disease and with Caffey's di...

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Bibliographic Details
Published in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2005-08, Vol.12 (8), p.1244-1248
Main Authors: Vignon-Savoye, C, Le Merrer, M, Vincens, A, Monfort, M, Talon, P
Format: Article
Language:fre
Subjects:
Adolescent
Adrenal Cortex Hormones - therapeutic use
Anemia - drug therapy
Anemia - etiology
Camurati-Engelmann Syndrome - complications
Camurati-Engelmann Syndrome - diagnostic imaging
Camurati-Engelmann Syndrome - drug therapy
Consanguinity
Female
Humans
Radiography
Syndrome
Treatment Outcome
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Summary:Ghosal-type hematodiaphyseal dysplasia has been first described in 1986, as a steroid-dependent anemia with endosteal broadening of the long bone's diaphyses and metaphaphyses, which makes a distinction with the periosteal reaction in Camuratti-Engelmann's disease and with Caffey's disease. Extreme pallor is first noticed and leads to search for palpable thick long bones that are not always clinically obvious. The transmission of this rare entity seems to be autosomal recessive, with a common racial background from the Middle East and the Indian subcontinent. Anemia is considerably improved by steroids, which allow to avoid blood cells transfusions, but a minimum maintenance dose is necessary to keep the hemoglobin at a normal level probably during the whole life, involving iatrogen complications. The mechanism of anemia and the genetic cause of the disease are yet unknown.
ISSN:0929-693X