Neonatal diabetes in Wolcott–Rallison syndrome: a case report
نویسندگان
چکیده
منابع مشابه
Neonatal diabetes in Wolcott–Rallison syndrome: a case report
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. In the present study, we analyzed the EIF2AK3 gene in a 64 day-old-girl WRS patient and his parents to study the cli...
متن کاملNeonatal Hyperekplexia: A Case Report
Hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. The disorder is occasionally associated with generalized muscular rigidity and has the clinical hallmark of positive nose tapping test.The disease is inherited in an autosomal dominant fashion. Recessively inherited and sporadic forms of...
متن کاملNeonatal progeroid syndrome (Weidman Rautenstrauch syndrome): A case report from Jammu &Kashmir, India.
A female one month old with features supporting a diagnosis of neonatal progeroid syndrome(WRS) presented to our neonatology section of GB pant children hospital Srinagar .she had prenatal and post natal growth failure, generalized lipotrophy, triangular face, psedohydrocephalous, sparse scalp hair and eye brows, prominent scalp veins and greatly widened anterior fontenella.
متن کاملNeonatal diabetes mellitus - A Case Report
Neonatal diabetes mellitus is a rare form of insulin dependent diabetes mellitus that presents within the first month of life, lasting for at least two weeks and requiring insulin therapy. We report such a case admitted in our hospital.
متن کاملNeonatal Abstinence Syndrome - Case Report
Neonatal abstinence syndrome (NAS) refers to the constellation of signs and symptoms exhibited by a newborn of drug-abusing mother. NAS is multisystemic disorder, most frequently involving central nervous and gastrointestinal systems with irritability, high-pitched cry, hyperactive reflexes, increased muscle tone, tremors, generalized convulsions, feeding and sleeping disorders, tachycardia, ta...
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: International Journal of Pediatric Endocrinology
سال: 2013
ISSN: 1687-9856
DOI: 10.1186/1687-9856-2013-s1-p4