The diverse neurological features of Niemann‐Pick disease type C: A report of two cases
Identifieur interne : 006526 ( Main/Exploration ); précédent : 006525; suivant : 006527The diverse neurological features of Niemann‐Pick disease type C: A report of two cases
Auteurs : R. J. Coleman [Royaume-Uni] ; S. A. Robb [Royaume-Uni] ; B. D. Lake [Royaume-Uni] ; E. M. Brett [Royaume-Uni] ; Harding [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1988.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Enfant.
English descriptors
- KwdEn :
- Adolescent, Ataxia, Brain (physiopathology), Case study, Cerebellar Ataxia (physiopathology), Cerebellar ataxia, Cerebellum, Child, Electroencephalography, Epilepsy, Tonic-Clonic (physiopathology), Female, Genetic disease, Humans, Juvenile Parkinsonism, Lipidosis, Lipids, Male, Metabolic diseases, Nervous system diseases, Neurologic Examination, Niemann Pick disease, Niemann-Pick Diseases (classification), Niemann-Pick Diseases (physiopathology), Niemann‐Pick disease, Ophthalmoplegia (physiopathology), Parkinson Disease (physiopathology), Symptomatology.
- MESH :
- classification : Niemann-Pick Diseases.
- physiopathology : Brain, Cerebellar Ataxia, Epilepsy, Tonic-Clonic, Niemann-Pick Diseases, Ophthalmoplegia, Parkinson Disease.
- Adolescent, Child, Electroencephalography, Female, Humans, Male, Neurologic Examination.
Abstract
Two cases of Niemann‐Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic‐rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann‐Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.
Url:
DOI: 10.1002/mds.870030403
Affiliations:
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