Document Type

Case Report


Thiamine responsive megaloblastic anemia (TRMA) also known as Rogers syndrome is a rare entity inherited as an autosomal recessive disorder. It consists of a pentad of diabetes-mellitus, megaloblastic anemia, thrombocytopenia, leukopenia and sensory-neural hearing loss. The defect occurs due to mutations in SLC19A2 gene resulting in the deficiency of a thiamine transporter proteins which prevents the transport of thiamine in to the cells and tissues. Here we report a 13 year old boy with megaloblastic anemia, sensory-neural deafness and young onset diabetes mellitus who presented with generalized tonic-clonic seizures. Diagnosis was based on clinical features and a rapid response to thiamine replacement with adequate control of seizures. This clinical entity and its association with epilepsy is extremely rare and must be thought of amongst the differentials of megaloblastic anemia and epilepsy. This rare case emphasizes the unique association of TRMA with epilepsy. Early diagnosis and management with thiamine drastically improves anemia, seizure control and blood glucose levels. To the best of our knowledge, it is the first case report of TRMA with epilepsy from Pakistan.

Included in

Neurology Commons