Hyperinsulinism in a Neonate
نویسندگان
چکیده
منابع مشابه
HYPERINSULINISM Practical management of hyperinsulinism in infancy
Hyperinsulinism in infancy is one of the most diYcult problems to manage in contemporary paediatric endocrinology. Although the diagnosis can usually be achieved without diYculty, it presents the paediatrician with formidable day to day management problems. Despite recent advances in understanding the pathophysiology of hyperinsulinism, the neurological outcome remains poor, and there is often ...
متن کاملA Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus
Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the underlying pathology. Genetic analysis is important in the diagnosis, treatment, patient follow-up, a...
متن کاملHYPERINSULINISM Genetics of neonatal hyperinsulinism
Congenital hyperinsulinism (HI) is a clinically and genetically heterogeneous entity. The clinical heterogeneity is manifested by severity ranging from extremely severe, life threatening disease to very mild clinical symptoms, which may even be diYcult to identify. Furthermore, clinical responsiveness to medical and surgical management is extremely variable. Recent discoveries have begun to cla...
متن کاملTesticular torsion in a neonate; a case report
The testicular torsion which is typically seen in prepuberty is very rare in the early neonatal period; prenatal diagnosis is difficult. Herein, we report a five day-old male neonate with swelling and erythema of the right scrotum. Following Doppler ultrasound suggestive of testicular torsion, surgical exploration was undertaken. There was gangrene of the right testis with discoloration and ne...
متن کاملFamilial Cleidocranial Dysplasia in a Neonate: A Case Report
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Annals
سال: 2014
ISSN: 0090-4481,1938-2359
DOI: 10.3928/00904481-20140221-08