Polyneuropathy is a frequently encountered clinical presentation where peripheral nerves are affected due to the same cause and physiopathological processes. We report a case of acute sensorimotor polyneuropathy in a patient with Tangier disease (TD) who was treated with miglustat which is a glycosphingolipid synthesis inhibitor. TD is a very rare genetic disorder caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene which encodes the cholesterol efflux regulatory protein.
View Article and Find Full Text PDFThe prevalent form of ichthyosis in neutral lipid storage disease (NLSDI) is nonbullous congenital ichthyosiform erythroderma (CIE) characterized by fine, whitish scales on erythematous skin over the whole body. Here, we report a late-diagnosed, 25-year-old woman with NLSDI presenting with diffuse erythema and fine whitish scales throughout the body with patches of apparently normal skin, "islets of sparing" on her lower extremities. We observed that the size of the normal skin islets changed with time, and even the entire lower extremity was covered with erythema and desquamation like the rest of the body.
View Article and Find Full Text PDFClin Neurol Neurosurg
January 2023
Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement.
View Article and Find Full Text PDFGlycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype-phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases.
View Article and Find Full Text PDFBackground/aim: Epidural fibrosis (EF) is a common cause of failed back surgery syndrome seen after spinal surgeries. The most frequent reason for the formation of EF is accumulated blood and its products in the operation zone. On the development of EF, the effect of bipolar coagulation and fibrillar oxidized cellulose, which are used frequently to control bleeding, was investigated.
View Article and Find Full Text PDF