All issues > Volume 37(12); 1994

Case Report

J Korean Pediatr Soc. 1994;37(12):1745-1751. Published online December 15, 1994.

A Case of Late Infantile Batten's Disease

Kyung-Tae KT Whang¹, Jong-Wan JW Kim¹, Young-Hoon YH Kim¹, Seung-Yun SY Chung¹, In-Goo IG Lee¹, Je-Geun JG Chi²

¹Department of Pediatrics, Catholic University Medical College, Seoul, Korea
²Department of Pathology, College of Medicine, Seoul National University, Seoul, Korea

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.

Keywords :Degenerative brain disease, Batten's disease, Neuronal ceroid lipofuscinosis