Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
نویسندگان
چکیده
منابع مشابه
Chorea-acanthocytosis presenting as dystonia.
The aim of this article is to present two Slovenian chorea-acanthocytosis (ChAc) siblings with an unusual predominantly dystonic ChAc phenotype. For diagnostic purposes, the genomic DNA was screened for VPS13A mutations. Movement disorder was evaluated and scored according to the Dystonia Movement and Disability Scale (DMDS) in order to evaluate the effects of L-dopa on dystonia. Brain imaging ...
متن کاملProgressive multifocal leukoencephalopathy (PML) presenting as intractable dystonia in an HIV-infected child.
Progressive multifocal leukoencephalopathy (PML) has been described in adult immunocompromised patients and has a progressive downhill course. Though dementia and motor disturbances have been described, intractable dystonia is a very unusual manifestation. In children, PML is very rare and often misdiagnosed as other central nervous system (CNS) encephalopathy. No definitive treatment is availa...
متن کاملLeukocyte Adhesion Deficiency Type 1 Presenting as Leukemoid Reaction
The hallmarks of leukocyte adhesion deficiency (LAD) are defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. These molecular and clinical manifestations result from an impaired step in the inflammatory process, namely, the emigration of leukocytes from the blood vessels to sites of infection, which requires adhesion of leukocytes to the endothelium. Over las...
متن کاملDystonia as presenting manifestation of ataxia telangiectasia : a case report.
Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.
متن کاملPortosystemic Shunt Presenting as Rapidly Progressive Dementia.
Rapidly progressive dementia (RPD) is a challenging clinical problem in the elderly. It encompasses a wide range of diseases. Thorough clinical examination and a systematic approach is essential to find the cause of RPD. Early recognition of causes of RPD is important for early treatment and reversal of the pathology. We report a case of RPD due to portosystemic encephalopathy secondary to a la...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1988
ISSN: 0022-3050
DOI: 10.1136/jnnp.51.3.446