Document Detail

A 54-year-old man with action myoclonus, parkinsonism and epilepsy
MedLine Citation:
PMID:  10586420     Owner:  NLM     Status:  MEDLINE    
We describe 3-year clinical course of a 54-year-old Japanese man who presented with action myoclonus, parkinsonism and epilepsy. There was no family history or consanguinity. The patient was well until the age of 51 years (in 1986), when he noted slow movements, memory disturbance and left hand tremor. He was treated with anti-Parkinson drugs without any improvements. Soon thereafter, he developed a gait disturbance and generalized tonic clonic seizures. He was admitted to our service at the age of 53 years. General physical examination revealed no hepatosplenomegaly. Neurological examination showed mild dementia. Neither retinal pigmentation nor cherry red spot was noted. He was unable to walk due to marked frozen gait. His upward gaze was limited and saccadic eye movement was slow. He had action myoclonus in both upper extremities and resting tremor on the left side. He showed mild left hemiparesis. Deep tendon reflex was hyperactive in both side with extensor plantar responses. MRI demonstrated cortical atrophy, especially marked at the bilateral temporal lobes with a right side predominance. Leukocyte lysosomal enzyme activities of beta-hexosaminidase, beta-galactosidase and sialidase were within normal limits. The patient died of pneumonia on April 25, 1989. At the time of a neurological CPC, neurologists reached the clinical diagnosis of adult-type neuronal ceroid-lipofuscinosis. Postmortem examination revealed bilateral bronchopneumonia. The brain weighed 1,219 g and showed atrophy of the temporal lobes. Histological examination showed neuronal cells with swollen cytoplasm and lipofuscin-like granules throughout the CNS, including the cerebral cortex, thalamus, substantia nigra, motor nuclei of the brain stem, dentate nuclei, inferior olivary nuclei. Clarke's nuclei and anterior horn cells. Marked neuronal loss was noted in the right temporal lobe and substantia nigra. Electron micrographs of the frontal cortex revealed "fingerprint profiles" in the cytoplasm of neuronal and glial cells. Pathological findings were consistent with the diagnosis of adult-type neuronal ceroid-lipofuscinosis (Kufs' disease).
A Yoshioka; S Saiki; Y Yamaya; M Kanemoto; G Hirose
Publication Detail:
Type:  Case Reports; Clinical Conference; English Abstract; Journal Article    
Journal Detail:
Title:  Nō to shinkei = Brain and nerve     Volume:  51     ISSN:  0006-8969     ISO Abbreviation:  No To Shinkei     Publication Date:  1999 Nov 
Date Detail:
Created Date:  2000-01-27     Completed Date:  2000-01-27     Revised Date:  2007-02-22    
Medline Journal Info:
Nlm Unique ID:  0413550     Medline TA:  No To Shinkei     Country:  JAPAN    
Other Details:
Languages:  jpn     Pagination:  999-1007     Citation Subset:  IM    
Department of Neurology, Kanazawa Medical University, Ishikawa-ken, Japan.
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MeSH Terms
Brain / pathology
Diagnosis, Differential
Epilepsy / etiology
Middle Aged
Myoclonus / etiology
Neuronal Ceroid-Lipofuscinoses / complications,  pathology*
Parkinsonian Disorders / etiology

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