A case report of a child with Wolcott-Rallison syndrome
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 کاملWolcott-Rallison syndrome
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. Fewer than 60 cases have been described in the literature, although WRS is now recognised as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous paren...
متن کاملMulticystic dysplastic kidney: a new association of Wolcott–Rallison syndrome
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder due to mutations in the EIF2AK3 gene. It is characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, liver impairment, neutropenia and renal dysfunction. Liver is the most commonly affected organ and liver failure is the commonest cause of death in this syndrome. The EIF2AK3 gene encodes a transmembrane pro...
متن کاملOs odontoideum in wolcott-rallison syndrome: a case series of 4 patients
Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).We report 4 children with WRS and Os Odontoideum resulting in significant neurological compromise. This cervical spine...
متن کاملIdiopathic Stevens-Johnson Syndrome in a Child: a Case Report
Background Stevens-Johnson syndrome (SJS) is one of potentially fatal disorders that often occur after taking certain types of medication. There are reports of this disease after some infections. This paper presents the case of a young boy with idiopathic Stevens-Johnson syndrome. Case Report A six-year-old male patient with complaint of fever and skin lesions was transferred to emergency depar...
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: Sri Lanka Journal of Medicine
سال: 2019
ISSN: 2579-1990
DOI: 10.4038/sljm.v28i2.126