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Q1: What is the ocular finding depicted in figure 1?
The ocular finding includes conjunctival telangiectasia. Telangiectases are small dilated blood vessels. In the context of progressive ataxia, you should search for this oculocutaneous marker more carefully in the conjunctivae, earlobes, bridge of the nose, eyelids, cheeks, neck, and antecubital and popliteal fossae.
Q2: What is the clinical diagnosis?
The patient exhibited, during gaze shifts, the characteristic pattern of head-eye coordination called ocular motor apraxia (see video). The presence of this sign, along with progressive cerebellar ataxia, recurrent sino-pulmonary infections and conjunctival telangiectasia is virtually diagnostic of ataxia-telangiectasia (A-T).1
Q3: What investigations would you consider?
The diagnosis relies mainly upon the clinical features and family history. Neuroimaging scan often shows non-specific cerebellar atrophy. Serum α fetoprotein (AFP) is usually increased, and the concentration in the present patient was 252 ng/ml (normal: up to 10 …