Atypical, Late Presentation of Juvenile Huntington Disease: Cognitive Impairment, Dementia and Tremors.
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2017, Vol 16, Issue 10
Abstract
Introduction: Huntington’s disease (HD) is a dominantly progressive, inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary movements mainly chorea, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. The characteristics of Juvenile Huntington’s Disease (JHD) differ from those of adult‑ onset HD, as chorea does not occur in JHD although bradykinesia, dystonia, and signs of cerebellar disorder such as rigidity are present frequently in association with convulsive episodes and psychotic manifestation. Case report: A 25 years old male was admitted with major complains of tremor, depression and dementia. Findings: History, clinical examination and laboratory findings suggestive of JHD, a form of HD. A diagnosis was confirmed by contrast enhanced magnetic resonance imaging of brain and Huntington Disease-DNA PCR. Conclusion: Tremor is an uncommon initial presentation of Huntington disease and Juvenile Huntington ’s disease.
Authors and Affiliations
Dr. Manjiri Naik, Dr. Vinit Sarode, Dr. Suraj Vyawahare, Dr. Sushant Yadav, Dr. Gaurav Tamboli, Dr Sachin Chate
Keywords
Related Articles
- EP ID EP243625
- DOI 10.9790/0853-1610050912
- Views 87
- Downloads 0
Soft Tissue Aesthetic: A Review Article
Aesthetics is an inseparable part of today’s dental treatment and has influenced the management of dental maladies in varying degrees for many years. In recent year clinicians and dentist’s aesthetic demand in dentistry...
Reteroperitoneal Abscess: A Rare Presentation of Duodenal Perforation.
Introduction: Long standing duodenal perforation presenting as retroperitoneal abscess. Case Report: We report a case of 60 year old female of sealed duodenal perforation presenting as retroperitoneal abscess. CECT abdom...
Strategy For Implementing Health Policy To Prevent Shallow At The State Entrance
This study aims to develop a strategy for implementing policies to prevent deterrence in order to protect the country's entrance from various infectious diseases. It is hoped that this research can be a guideline for the...
Correlating Clinical Features with EEG findings and Neuroimaging (MRI) abnormalities in Children with Seizure disorder
BACKGROUND: Seizure disorder is one of the most common treatable neurological disorders of brain.The essential diagnostic evaluation for unprovoked seizure remains source of debate. Only few studies have evaluated the ut...
Assessing and comparing the quality of wound healing with Vacuum-Assisted Closure and with conventional dressings using Wound Bed Score
BACKGROUND Delayed wound healing is a major health issue in today’s society, particularly in older population. Failure of the wound to heal causes social and financial burdens, in addition to the pain and suffering they...