Dataset Information

Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

ABSTRACT: Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of all major arteries. We report a clinical case of a girl with this rare condition, who initially presented with epilepsy. DSA or MRA revealed a severe arterial tortuosity. EEG showed epileptiform discharge in right frontotemporal hemisphere. Here, we report the first case of ATS presenting with epilepsy. We discussed the possible clinical implications of this rare clinical presentation. Moreover, we suggest that some patients presenting with epilepsy might need serious cerebral vascular evaluation and ATS needs to be considered in the differential diagnosis.

SUBMITTER: Chen S

PROVIDER: S-EPMC6894502 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

Chen Sheng S Hong Yuan Y Sherchan Prativa P Zhang Jian-Min JM

Turkish neurosurgery 20140101 3

Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of all major arteries. We report a clinical case of a girl with this rare condition, who initially presented with epilepsy. DSA or MRA revealed a severe arterial tortuosity. EEG showed epileptiform discharge in right frontotemporal hemisphere. Here, we report the first case of ATS presenting with epilepsy. We discussed the possible clinical implication ...[more]

PMID: 24848186

Similar Datasets

Project description:BackgroundHunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males. However, in the literature, 12 cases of the disease in females are known due to structural anomalies, a non-random chromosome X inactivation or chromosome X monosomy. The purpose of this article is to demonstrate a rare case of Hunter syndrome in a girl caused by a mutation in the IDS gene inherited from the mother and the presence of chromosome X of paternal origin, partially deleted in the long arm region - 46,X,del(X)(q22.1).Case presentationGirl M., 4 years old, entered the hospital with growth retardation, pain in the lower limbs, and joint stiffness, noted from the age of 18 months. After the karyotype analysis, which revealed a partial deletion of the long arm of chromosome X - 46, X, del (X) (q 22.1), Turner syndrome was diagnosed. However, due to the hurler-like facial phenotype, Hurler syndrome or type I mucopolysaccharidosis (MPS) was suspected. The study of lysosomal enzymes showed normal alpha-L-iduronidase activity and a sharp decrease in the activity of iduronate sulfatase in the blood: 0.001 μM/l/h, at a rate of 2.5-50 μM/l/h. Molecular genetic analysis revealed a hemizygous deletion in the IDS gene, which was not registered in the international Human Gene Mutation Database (HGMD) professional. This deletion was not detected in the girl's father, but was detected in her mother in the heterozygous state.ConclusionsThus, the girl confirmed comorbidity - Turner syndrome with a partial deletion of the long arm of chromosome X of paternal origin, affecting the Xq28 region (localization of the IDS gene), and Hunter syndrome due to a deletion of the IDS gene inherited from the mother. The structural defect of chromosome X in the girl confirmed the hemizygous state due to the mutation in the IDS gene, which has led to the formation of the clinical phenotype of Hunter syndrome.

Dataset Information

Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

Publications

Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets