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A Case of Late Infantile Batten's Disease

Journal of the Korean Pediatric Society 1994;37(12):1745-1751.
Published online December 15, 1994.
A Case of Late Infantile Batten's Disease
Kyung-Tae Whang1, Jong-Wan Kim1, Young-Hoon Kim1, Seung-Yun Chung1, In-Goo Lee1, Je-Geun Chi2
1Department of Pediatrics, Catholic University Medical College, Seoul, Korea
2Department of Pathology, College of Medicine, Seoul National University, Seoul, Korea
영아 후기형 Batten 병의 1례
황경태1, 김종완1, 김영훈1, 정승연1, 이인구1, 지제근2
1가톨릭대학교 의과대학 소아과학교실
2서울대학교 의과대학 병리학교실
Abstract
We experienced a case of late infantile Batten's disease in a 4-year-7-month-old boy who was admitted to child neurology service of Kangnam St. Mary's hospital for evaluation of progressive psychomotor deterioration. He was in quit normal state of development until 3 years of age when his mother first became concerned because he showed such emotional change as crying and fear. Since then he acted strange and major motor milestones were progressively deteriorated, and eventually he was unable to walk and run at 4 years of age. At that time the patient began to have seizure and it was described as jerking movements of both arms simultaneously and generalized tonic clonic movements of upper and lower extremities Denver developmental examination revealed a severe retardation in all his developmental milestones. On admission he has definitely mentally retarded, he had no speech and his vision was imparied. He had noted bilateral nystagmus. Fundi revealed pale sharp disc, dark degeneration f macula and paroxysmal burst spikes and slow waves which was compatible with myoclonic seizures. AEP and needle EMG studies were normal. A diagnosis of Batten's disease was made on the basis of brain biopsy which showed ballooning of the large neurons, granular lipopigment bodies in cytoplasm, bright fluorescence cytoplasmic granules under UV light and numerous dense bodies on EM finding. He died at the age of 12 years due to pneumonia.
Key Words: Degenerative brain disease, Batten's disease, Neuronal ceroid lipofuscinosis


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