A Case of Late Infantile Batten's Disease.
- Author:
Kyung Tai WHANG
;
Jong Wan KIM
;
Young Hoon KIM
;
Seung Yun CHUNG
;
In Goo LEE
;
Je Geun CHI
- Publication Type:Case Report
- MeSH:
Arm;
Arterioles;
Atrophy;
Biopsy;
Brain;
Child;
Crying;
Cytoplasm;
Cytoplasmic Granules;
Diagnosis;
Electroencephalography;
Fluorescence;
Humans;
Lower Extremity;
Male;
Mentally Disabled Persons;
Mothers;
Needles;
Neurology;
Neurons;
Pneumonia;
Retinaldehyde;
Seizures;
Ultraviolet Rays
- From:Journal of the Korean Pediatric Society
1994;37(12):1745-1751
- CountryRepublic of Korea
- Language:Korean
-
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 quite 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 impaired. He had noted bilateral nystagmus. Fundi revealed pale sharp disc, dark degeneration of macula and marked attenuated retinal arterioles. Brain CT showed mild cortical atrophy. EEG showed 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.
