منابع مشابه
Psychiatric onset Alexander disease: an important challenge in neuropsychiatric diagnosis
Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...
متن کاملinfantile-onset pompe disease
how to cite this article: ashrafi mr, tavasoli ar. infantile-onset pompe disease. iran j child neurol autumn 2012; 6:4(suppl. 1):7-9. pls see pdf. refe r ences: 1. kishnani ps, steiner rd. pompe disease diagnosis and management guidelines. american j med genetic. 2006 .vol; 8; no5. 2. case se, beckemyer aa. infantile pompe disease on ert-updateonclinicalpresentation,musculoskeletal management...
متن کاملInfantile Alexander disease: MR appearance of a biopsy-proved case.
Fig. 1.-A, Noncontrast CT scan shows vague area of increased attenuation adjacent to head of right caudate nucleus (arrow). B, Coronal T1-weighted (700/ 20/ 4) MR image shows area of decreased signal in white matter adjacent to, and extending into, head of right caudate nucleus (arrow). C, Axial T1-weighted (600/ 20) postcontrast MR image shows no significant contrast enhancement (arrow). D, Ax...
متن کاملInfantile-onset Pompe disease with neonatal debut
Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. Patient concerns:We report a case of a newborn with infantile-onset Pompe disease diag...
متن کاملA Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis
Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2012
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-26-7-10