Leprechaunismli Bir infantta Bozulmuş Glukoz Regülasyonu ve Dev Over Kistlerinin Yüksek Doz insülin Glarjin ile Tedavisi

Yıl 2011, Cilt: 9 Sayı: 1, 119 - 122, 01.06.2011

Ayşe Yasemin Çelik Özgür Pirgon Dursun Odabaş

Öz

Giriş: Leprechaunism; insülin reseptör genindeki mutasyona bağlı olarak ağır insülindirencinin meydana geldiği otozomal resesif kalıtılan ve nadir görülen bir sendromdur.Bu yazıda leprechaunism tanısı alan 75 günlük bir hastada yüksek doz insülin glarjintedavisinin sonuçları sunulmaktadır.Olgu Sunumu: Hiperglisemi ve ketoasidoz ile başvuran 75 günlük kız hastada dismofik görünümü nedeni ile leprechaunism tanısı aldı. Her iki overinde içerisindemultipl septalar bulunan, kistik görünüm izlendi. Yüksek doz insülin glarjin tedavisi ilekan 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 vetekrarlayan enfeksiyonlar nedeni ile kaybedilmektedir

Anahtar Kelimeler

Leprechaunism, insülin direnci, insülin glarjin, over kisti

Treatment of Abnormal Glucose Regulation and Huge Ovarian Cysts with High Dose Insulin Glargine in an Infant with Leprechaunism

Öz

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 infantwith leprecahunism treated by high dose insulin glargine.Case Report: Yetmiş day old girl was diagnosed as leprechaunism because of thehyperglycemia, ketoacidosis and dysmorphic appearance. Huge cysts with multiplesepta 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 growthrestriction, lipo-atrophy, characteristic facial features, severe acanthosis nigricans,abnormal glucose homeostasis, clitoromegaly and hirsutism. It is usually fatal withinthe 1st year of life because of diabetic ketoacidosis or recurrent infections

Anahtar Kelimeler

Leprechaunism, insulin resistance, insulin glargine, ovarian cyst

Kaynakça

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