Which of the following is a characteristic sign of Ataxia Telangiectasia?

• A. Telangiectasias around the eyes, face, and roof of the mouth
• B. Increased reflexes
• C. Hyperglycemia only
• D. Progressive muscle wasting

Answer: (A)

Telangiectasias are small, visible dilations of blood vessels in the skin and mucous membranes. In Ataxia Telangiectasia, these vascular changes develop as part of the disease’s vascular and sensory abnormalities, and they most characteristically appear around the eyes, on the face, and on the roof of the mouth. This combination of progressive cerebellar dysfunction (ataxia) with visible mucocutaneous telangiectasias is a classic, distinguishing feature of the condition, helping to differentiate it from other signs like increased reflexes, which aren’t typical in this disease, or from hyperglycemia or purely progressive muscle wasting. Recognizing these telangiectasias points to the specific pattern of Ataxia Telangiectasia, where the skin/mucosal vascular changes accompany the neurodegenerative and immunologic aspects of the disorder.