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A 27-year-old man had been diagnosed with ataxia-telangiectasia at age 13 years. He had ocular telangiectasia and motor ataxia, with incoordination of head and eyes in lateral gaze. Laboratory data revealed deficiency of immunoglobulin and elevated α-fetoprotein. MRI demonstrated cerebellar atrophy and cerebral microbleeds1 (figure 1); the dentate nuclei had deficient iron signals, which otherwise should be visible as hypointensities in susceptibility-weighted imaging (figure 2). Iron depletion in dentate nuclei is a novel finding and could be explained by the blockage of axonal iron transport in the olivocerebello-olivary loop.2

Ataxia-telangiectasia (AT) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oculomotor apraxia. Included in this group are AT, ataxia-telangiectasia–like disorder (ATLD), ataxia with oculomotor apraxia type 1 (AOA 1), ataxia with oculomotor apraxia type 2 (AOA 2), and the recently described AOA3. Common to this group is the underlying cellular defect in the recognition and repair of double-strand or single-strand DNA breaks. Clinical and laboratory features allow one to distinguish between these various disorders. In this report, we describe a child with early onset progressive ataxia, oculomotor apraxia, ocular telangiectasia, and white-matter changes by magnetic resonance imaging, which appears to be yet another novel form of AOA. We designate this condition as AOA-WM to call attention to the central demyelination seen in this variety of ataxia with oculomotor apraxia.

Two young adult brothers presented with a 5- to 6-Hz resting tremor of the upper limbs. Although ataxia was not unequivocally present and ocular telangiectasia was minimal, typical rearrangements of chromosomes 7 and 14, and increased alpha-feto-protein levels indicated the presence of ataxia telangiectasia (AT). Resting tremor as a predominating symptom in AT is uncommon and to our knowledge has not been described previously.

Ataxia telangiectasia is an early onset neurodegenerative disorder. We report a case of childhood onset ataxia and ocular telangiectasia, presenting with pulmonary infection. The patient was diagnosed as ataxia telangiectasia. The patient succumbed to death owing to late diagnosis and sepsis.

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.