Ocular Telangiectasia Research Articles

1002 THE EFFECTS OF ISOPRINOSINE IN A PATIENT WITH ATAXIA TELANGIECTASIA

Ataxia telangiectasia (A-T), a genetic disorder involving multiple systems is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infections and abnormal cellular and humoral immunity. We studied the effects of Isoprinosine in a 6½ year old white female with A-T. The child had a normal birth history. At the age of 5 months, she developed recurrent sinopulmonary infections and otitis media. Ocular telangiectasia was noted at 10 months of age. Progressive ataxia and disarthric speech developed at 17 months of age. Immunologic studies showed low numbers of active and total T cells, negative skin test to Candida; low in vitro DNA synthesis responses to phytohemagglutinin (PHA) and Concanavaline A (ConA); and absent leukocyte migratory inhibitory factor release (LIF) in the presence of Candida and PHA; normal serum immunoglobulins but low IgG2 and IgG4. Prophylactic Septra therapy resulted in some decrease of pyogenic infections. Isoprinosine 100 mg/kg/day orally was begun in July 1981. Following the treatment, she showed no neurological improvement but experienced no infection. Significant increase of her T cell function and the levels of IgG subclass were repeatedly demonstrated. No adverse reaction was observed. Our data indicated that similar therapy may be beneficial to other A-T patients.

Ataxia-telangiectasia with absence of IgG

A case of ataxia-telangiectasia (Louis-Bar's Syndrome) is reported in a 8-year-old girl with ocular telangiectasia, ataxia and dystonia. She had few infections. There were clear radiological signs of cerebellar atrophy. The serum electrophoretic pattern showed a clear hypogammaglobulinaemia in her parents and one sister. The serum electrophoretic pattern of the patient showed absence of immunoglobulin G and an increase of the IgA and IgM precipitation bands. The clinical and immunological aspects of the A-T syndrome are discussed; in such cases previously reported the absence of IgG in serum is very rare; this finding suggests a possible relationship between the condition and the Swiss type of agammaglobulinaemia.