Donohue Sendromu Leprechaunism : Vaka Sunumu

Abstract

Donohue sendromu Leprechaunism çok ender görülen ve otozomal resesif olarak kalıtılan genetik bir hastalıktır. Fetal yaşam ve sonrasını da etkileyen insülin reseptör genindeki mutasyona bağlı olarak görülür. Melek yüzü, hipertrikoz, akantozis nigrikans, ciltaltı yağ dokusunda azalma, intrauterin ve postnatal büyüme geriliği ile karakterizedir. Tanı klinik muayene ve destekleyici laboratuvar tetkikleri ile konulur. Kesin tanı ise insülin reseptör geninde ilişkili mutasyonların gösterilmesi ile olasıdır. Genellikle prognozu kötüdür, hastalar erken yaşta kaybedilir. Bu makalede, çok ender gözlenmesi nedeniyle, glukoz metabolizması bozukluğu yanında diğer endokrin patolojilerin de eşlik ettiği Donohue sendromu tanısı alan 57 günlük bir erkek bebek sunulmuştur.

Keywords

• Donohue sendromu,Leprechaunism,insülin reseptör geni,hiperinsülinemi

Donohue Syndrome Leprechaunism : A Case Report

Abstract

Donohue syndrome Leprechaunism is an extremely rare, autosomal recessively inherited genetic disease. It is caused by mutations at the insulin receptor gene, which has a profound effect during fetal development and thereafter. It is characterized by elfin face, hypertrichosis, acanthosis nigricans, reduced subcutaneous fat, and intrauterine and postnatal growth retardation. Diagnosis is established according to the physical examination and laboratory investigations. Definitive diagnosis is possible with demonstration of the mutations at the insulin receptor gene. The prognosis is usually grave, most of them die early in infancy. In this paper, a 57 day- old male diagnosed with Donohue syndrome, who had other endocrine pathologies besides abnormal glucose metabolism, is presented due to its very rare occurrence.

Keywords

• Donohue syndrome,Leprechaunism,insulin receptor gene,hyperinsulinism

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