Does Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?
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منابع مشابه
Does Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?
Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-mo...
متن کاملthiamine– responsive megaloblastic anemia syndrome
thiamine responsive megaloblastic anemia in didmoa (wolfram) syndrome has an autosomal- recessive mode of inheritance . megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (di), diabetes mellitus (dm) ,optic atrophy (oa) and deafness (d). neutropenia and thrombocytopenia are also present. we report a 7 month old girl with congenital macrocytic anemia a rare clinic...
متن کاملA rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport.
A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.
متن کاملThiamine responsive megaloblastic anemia.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
متن کاملthiamine–responsive megaloblastic anemia, sensorineural deafness and diabetes mellitus
abstract- the syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. the previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption. the features of this syndrome with apparent inheritance of autosomal recessive trait may define this puzzling syndrome as a true thiamine dependen...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2011
ISSN: 1308-5727
DOI: 10.4274/jcrpe.v3i1.08