Ataxia—Telangiectasia. Presented by Dr. Thomas B. Fitzpatrick.
A white schoolgirl aged 12 is presented from the Massachusetts General Hospital with a dermatosis of 8 years' duration involving the face, ears, and neck. Since the age of 1 year the child has had difficulty with her gait, i.e., walking on her toes, and falling backward. At the age of 4 she developed "hemorrhagic blisters," which broke and left scars, under her chin. There were also erythematous linear eruptions in the flexural areas of the elbows, knees, and neck, which have persisted to the present. When she was 8 the patient's speech became slurred and indistinct, associated with wandering movements of her eyes. At 10 years she had pneumonia. Now she is unable to walk or speak well. There is weakness in ability to cough and clear her throat, and in addition, coarse nystagmus, nasal speech, depression, telangiectasia on the pinnae,
Catinella PJ, Tilley RF. NEW ENGLAND DERMATOLOGICAL SOCIETY. Arch Dermatol. 1961;84(6):1051–1056. doi:10.1001/archderm.1961.01580180167036