Krabbe disease – An unusual presentation of optic nerve enlargement
نویسندگان
چکیده
منابع مشابه
Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease.
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 کاملOptic 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...
متن کاملKimura’s Disease – An Unusual Presentation
Introduction: Kimura’s disease is a rare chronic inflammatory disease of unknown etiology, presenting as painless subcutaneous nodules with lymphadenopathy and peripheral eosinophilia, mainly disturbing the head and neck region. It mainly affects Asian males in their 2nd to 4th decade of life. One such case of Kimura’s disease, which is uncommon in Indian natives, is reported. Case Report: A ...
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.
متن کاملkimura’s disease – an unusual presentation
introduction: kimura’s disease is a rare chronic inflammatory disease of unknown etiology, presenting as painless subcutaneous nodules with lymphadenopathy and peripheral eosinophilia, mainly disturbing the head and neck region. it mainly affects asian males in their 2nd to 4th decade of life. one such case of kimura’s disease, which is uncommon in indian natives, is reported. case report: a ...
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: South African Journal of Radiology
سال: 2015
ISSN: 2078-6778,1027-202X
DOI: 10.4102/sajr.v19i2.887