Tutak E, Satar M, Yapicioğlu H, Altintaş A, Narli N, Hergüner O, Bayram Y
Cukurova University, Faculty of Medicine, Department of Pediatrics, Division of Neonatology, Adana, Turkey.
Genet Couns. 2009;20(2):147-52.
Classical neonatal diabetes mellitus is defined as hyperglycemia that occurs within the first month of life in term infants. It can be either permanent or transient. Cerebellar agenesis and permanent neonatal diabetes has been previously reported as a new autosomal recessive disorder. Pancreas Transcription Factor 1 Alpha (PTF1A) mutations have been related with this constellation of abnormalities. Here we report a new case of cerebellar agenesis and neonatal diabetes mellitus whose parents are PTF1A mutation carriers.
经典型新生儿糖尿病被定义为足月儿出生后第一个月内发生的高血糖症。它可以是永久性的或暂时性的。小脑发育不全和永久性新生儿糖尿病先前已被报道为一种新的常染色体隐性疾病。胰腺转录因子1α（PTF1A）突变与这一系列异常情况有关。在此，我们报告一例小脑发育不全和新生儿糖尿病的新病例，其父母是PTF1A突变携带者。
