Wolfram syndrome is a rare autosomal recessive disorder featuring diabetes insipidus, diabetes mellitus, optic atrophy, and deafness; DIDMOAD is a commonly accepted anonym for this disorder. We describe a 35-year-old man with Wolfram syndrome, who had marked atrophy of the brain stem, middle cerebellar peduncle, and cerebellum. Despite these MR imaging findings involving the pontocerebellar tra...

Genes encoding proteins critical for intracellular vesicular transport are an emerging area of importance for neurologists. In particular, proteins that create and maintain the correct compartmental pH, such as the endosomal Na(+)/H(+) exchangers (NHEs), have been implicated in a wide range of human diseases, including cardiovascular, inflammatory bowel, renal, and neurologic disorders, which d...

The nervous system and the endocrine system are closely interrelated and both involved intimately in maintaining homeostasis. Endocrine dysfunctions may lead to various neurologic manifestations such as headache, myopathy, and acute encephalopathy including coma. It is important to recognize the neurologic signs and symptoms caused by the endocrine disorders while managing endocrine disorders. ...

Objective: Malformations of cortical development (MCD) are rare central nervous system abnormalities that caused by disruption normal stages, including neural cell proliferation, type differentiation, neuronal migration, and final positioning. It has different phenotypic presentations which largely depend on the underlying cause disorder is associated with other neurologic systemic disorders. M...

BACKGROUND Food insecurity (FI) has been shown to be associated with poor health both in developing and developed countries. Little is known about the relation between FI and neurological disorder. We assessed the relation between FI and risk for neurologic symptoms in southwest Ethiopia. METHODS Data about food security, gender, age, household assets, and self-reported neurologic symptoms we...

Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for Griscelli syndrome type 2, an inherited immune disorder causing fatal hemophagocytic lymphohistiocytosis (HLH). Optimal therapeutic modalities are not yet well known. We retrospectively analyzed the outcome for 10 patients who underwent HSCT in a single center between 1996 and 2008. Seven patients (70%)...