Unlabelled: Vascular complications related to multiple hereditary exostoses are uncommon. We present a 39-year-old male patient with multiple exostoses in the upper and lower limbs with an associated positive familial history of such lesions. He experienced a sudden onset of left-side ataxia and hypoesthesia secondary to a left lateral medullary infarction, which was due to a stenotic-pattern vertebral artery dissection (V1-V4). This complication is very rare as a differential diagnosis in the vertebro-basilar dissection spectrum, and a nonspecific relation has been found.

Abbreviations: MHEMultiple hereditary exostosesATangiotomographyVADvertebral artery dissectionCADcervical artery dissectionOIosteogenesis imperfecta.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367807PMC

Publication Analysis

Top Keywords

multiple hereditary
8
hereditary exostoses
8
vertebral artery
8
artery dissection
8
exostoses stroke
4
stroke vertebral
4
artery
4
dissection unlabelled
4
unlabelled vascular
4
vascular complications
4

Similar Publications

Background: Multiple endocrine neoplasia type 2 syndrome (MEN2) is a hereditary disease resulting from mutations of the rearranged during transfection (RET) protooncogene subclassified into MEN2A [medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism] and MEN2B (MTC, pheochromocytoma, Marfanoid habitus, mucous neuromas, and intestinal ganglioneuromatosis). Prophylactic thyroidectomy is recommended in RET-mutated patients. The age at which it should be performed depends on the type and aggressiveness of the mutation.

View Article and Find Full Text PDF

Angiodysplasia is one of the causes of recurrent episodes of lower gastrointestinal (GI) bleeding. Angiodysplasia could be associated with few lesions or multiple diffuse lesions, causing diversity in the clinical presentation of such patients. We report a case of a 19-year-old male presenting with life-threatening gastrointestinal bleeding due to diffuse angiodysplasia of the bowel extending from the jejunum to the sigmoid colon and requiring multiple investigations and management.

View Article and Find Full Text PDF

Hereditary haemorrhagic telangiectasia (HHT) is a rare genetic disease characterised by mucocutaneous telangiectasias and arteriovenous malformations that can affect multiple organs. Although rare, ischaemic cholangiopathy can occur, a serious complication that can even lead to death. We present the case of a patient with HHT disease with previous mucocutaneous and gastrointestinal manifestations in whom 8 weeks after cholecystectomy a saccular dilatation of the intrahepatic bile duct was observed.

View Article and Find Full Text PDF

Background: Several studies evaluated peripheral and cerebrospinal fluid (CSF) mtDNA as a putative biomarker in neurodegenerative diseases, often yielding inconsistent findings. We systematically reviewed the current evidence assessing blood and CSF mtDNA levels and variant burden in Parkinson's disease (PD), Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS). Multiple sclerosis (MS) was also included as a paradigm of chronic neuroinflammation-driven neurodegeneration.

View Article and Find Full Text PDF

To analyze the clinical significance of molecular classification and hereditary phenotype in endometrial carcinoma (EC) based on high throughput sequencing (NGS). 97 EC samples were collected retrospectively from December 2019 to October 2022 in China-Japan Friendship Hospital. NGS technique was used to analyze the molecular classification, POLE hypermutation, microsatellite high Instability/mismatch repair dysfunction (MSI-H/MMRd), P53 protein abnormality (P53 abn), and non-specific molecular profile (NSMP).

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!