Article Text

PDF
Unsteady gait

Statistics from Altmetric.com

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 …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Linked Articles

  • Electronic pages
    R Nandhagopal S G Krishnamoorthy