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Images in Clinical Practice Indian Pediatrics 1999;36: 1278 |
Ataxia Telangiectasia |
A 13-year-old male child, product of a non consanguineous marriage presented with complaints of swaying from side to side and gradually increasing abnormal movements of the limbs from 6 years of age. There was no history of birth asphyxia, convulsions; vomiting, headache, altered sensorium or rashes. Motor mliestones were significantly delayed whereas the mental milestones were normal. As the disease progressed there was a regression of the motor milestones. The child was wasted and stunted. Examination of the eyes revealed bilateral temporal conjunctival telangiectasia (Fig. 1) along with horizontal sacchadic eye movements. Nervous system examination, revealed mild hypotonia, lack of co-ordination, prominent cerebellar signs in the form of dysarthria, truncal ataxia (Fig. 2), past pointing and adiadokokinesia. Occasional athetoid movements were noticed in the fingers. Other systemic examination were within normal limits. A high level of alpha-fetoprotein 400 mg/l (N = 8-12 mg/1) was observed. EMG, nerve conduction velocity and CPK studies were normal.
Fig. 1. Telangiectasia of bulbar conjuctiva.
Fig. 1. Patient sitting with support of outstretched arms and forwardk bending of the toros due to truncal ataxia. Ataxia telangiectasia is a progressive neurologic disorder which has a birth frequency of 1 in 300,000. Neurologic features result from cerebellar degeneration. Classical clinical features are progressive cerebellar ataxia which is initially truncal and presence of telangiectasia on bulbar conjunctiva. A high level of alpha-fetoprotein is a consistent feature. Also low levels of IgA and IeG are observed.These patients have a increased likelihood of developing serious infections and malignancies like leukemias and lymphomas. Treatment is generally supportive and the disease has an unrelenting progressive course. Vikram Datta, |
