J Korean Pediatr Soc.  1994 Dec;37(12):1745-1751.

A Case of Late Infantile Batten's Disease

• Whang KT
• Kim JW
• Kim YH
• Chung SY
• Lee IG
• Chi JG

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.

MeSH Terms

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
Retinaldehyde