Ghosal Type Hematodiaphyseal Dysplasia.

Jeevan, Amrit; Doyard, Mathilde; Kabra, Madhulika; Daire, Valerie Cormier; Gupta, Neerja

Ghosal Type Hematodiaphyseal Dysplasia.

Files

ip2016v53n4p347_Not available.pdf (10.32 KB)

Date

2016-04

Authors

Jeevan, Amrit

Doyard, Mathilde

Kabra, Madhulika

Daire, Valerie Cormier

Gupta, Neerja

Abstract

Background: Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder characterized by refractory anemia and diaphyseal bone dysplasia. Case characteristics: A 3 y 9 mo-old male child presented with progressive anemia and bowing of thighs. Child was found to have a previously reported homozygous point mutation c.1238G>A, (p.Arg413Glu) in Exon 16 of TBXAS1 gene. Outcome: Low dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes. Message: Refractory anemia in association with bony deformities should prompt pediatricians to investigate for inherited bony dysplasia.

Keywords

Anemia, Diaphyseal dysplasia, Engelmann disease

Citation

Amrit Jeevan, Mathilde Doyard, Madhulika Kabra, Valerie Cormier Daire and Neerja Gupta. Ghosal Type Hematodiaphyseal Dysplasia. Indian Pediatrics. 2016 Apr; 53(4): 347-348.

URI

https://imsear.searo.who.int/handle/123456789/178978

Collections

Indian Pediatrics

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