Ayşe Yasemin ÇELİK, Özgün PİRGON, Dursun ODABAŞ

Leprechaunismli bir infantta bozulmuş glukoz regülasyonu ve dev over kistlerinin yüksek doz insülin glarjin ile tedavisi

Giriş: Leprechaunism; insülin reseptör genindeki mutasyona bağlı olarak ağır insülin direncinin meydana geldiği otozomal resesif kalıtılan ve nadir görülen bir sendromdur. Bu yazıda leprechaunism tanısı alan 75 günlük bir hastada yüksek doz insülin glarjin tedavisinin sonuçları sunulmaktadır. Olgu Sunumu: Hiperglisemi ve ketoasidoz ile başvuran 75 günlük kız hastada dismofik görünümü nedeni ile leprechaunism tanısı aldı. Her iki overinde içerisinde multipl septalar bulunan, kistik görünüm izlendi. Yüksek doz insülin glarjin tedavisi ile kan şekeri regulasyonu sağlandı ve over kistleri düzeldi. Tartışma: Leprechaunism sendromunda intraüterin-postnatal büyüme geriliği, lipoatrofi, tipik yüz görünümü, ağır akantoz, anormal kan şekeri düzeyleri, kliteromegali ve hirsutism görülmektedir. Birçok vaka 1 yaşına gelmeden önce diyabetik ketoasidoz ve tekrarlayan enfeksiyonlar nedeni ile kaybedilmektedir.

Treatment of abnormal glucose regulation and huge ovarian cysts with high dose insulin glargine in an infant with leprechaunism

Introduction: Leprechaunism is a rare autosomal recessive disorder caused by mutations in the insulin receptor gene. In this report; we present a 75 days old infant with leprecahunism treated by high dose insulin glargine. Case Report: Yetmiş day old girl was diagnosed as leprechaunism because of the hyperglycemia, ketoacidosis and dysmorphic appearance. Huge cysts with multiple septa were determined in her ovaries. High dose insulin glargine were adjusted to achieve target blood glucose regulation. Huge ovarian cysts resolved by this treatment. Conclusion: Leprechaunism is characterized by intra-uterine and postnatal growth restriction, lipo-atrophy, characteristic facial features, severe acanthosis nigricans, abnormal glucose homeostasis, clitoromegaly and hirsutism. It is usually fatal within the 1st year of life because of diabetic ketoacidosis or recurrent infections.

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