Current Pediatric Research

This case report describes a patient with a rare syndrome known as Thiamine-responsive Megaloblastic Anemia Syndrome (TRMA) which is an autosomal recessive disorder caused by gene mutation identified by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. We report a case of TRMA in a female child, born to a consanguine family. The child present with classical symptoms of the syndrome. Further assessment and mutation analysis confirmed a diagnosis of TRMA syndrome. By this report, we are hoping we can increase the awareness of the possible diagnosis of the syndrome for patients presenting with similar clinical manifestation especially where the rate of consanguineous marriages is high.

Author(s): Samaher Jabril Ismail, Abdulmoein Eid Al-Agha

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