Optic Nerve Enlargement in Infantile Form of Krabbe Disease
نویسندگان
چکیده
منابع مشابه
Optic nerve enlargement in infantile form of Krabbe disease
Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, thalamic and basal ganglia lesions rarely associated with an enlargement of the optic nerves bilat...
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Pediatric Neurology Unit, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre RS, Brazil; Genetic Department, HCPA; Medical Genetic Service, HCPA; Professor of the Genetic Department, HCPA; Neuroradiology Department of Hospital Moinhos de Vento, Porto Alegre RS, Brazil; Pediatric Neurologist, Head of the Pediatric Neurology Unit, HCPA. Adjunct Professor, Universidade Federal do Rio Grande...
متن کاملEarly infantile form of Krabbe disease with optic hypertrophy: serial MR examinations and autopsy correlation.
The development of white matter lesions in a case of autopsy-proved early infantile form of Krabbe disease was monitored by serial MR examinations. Hypertrophy of the optic nerves was present late in the course of the patient's disease and is a remarkable feature in this case.
متن کاملOptic nerve enlargement in Krabbe's disease.
We report imaging and gross pathologic findings from two cases of Krabbe disease in which there was marked enlargement of the intracranial optic nerves. Numerous globoid cells were observed in the optic nerves at autopsy in one case. Krabbe disease should be included in the differential diagnosis of children with enlargement of the optic nerves.
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The authors present two cases of 5-month-old children with early infantile Krabbe disease studied by CT and MR. Both infants had characteristic CT scans for the disease consisting of symmetric hyperdensity involving the cerebellum, thalami, caudate, corona radiata, and brain stem. One of the infants had a deceptively normal initial MR examination, with dramatic progression of the white-matter d...
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ژورنال
عنوان ژورنال: Clinics and Practice
سال: 2012
ISSN: 2039-7283
DOI: 10.4081/cp.2012.e81