NEW ENGLAND DERMATOLOGICAL SOCIETY
Oct 4, 1969John L. Fromer, MD, Recorder
Ataxia-Telangiectasia. Presented by Aaron B. Lerner, MD.
An 8-year-old white boy had lesions of the conjunctiva and antecubital fossae. Ataxia and mental retardation were noted at 11 months of age. The patient was the product of a full-term, uncomplicated pregnancy and delivery. Recurrent sore throats were abnormally frequent until age 3 years. The parents have no neurologic abnormalities. An older brother was ataxic and died of leukemia at age 5 1/2 years, and a younger brother, now 3 years old, is also ataxic. Two sisters and one brother are normal.On examination, superficial dilated blood vessels are noted in the bulbar conjunctivae and antecubital fossae.
Peter Huttenlocher, MD: About 200 cases of ataxia-telangiectasia have now been described (Amer J Dis Child110:51-63, 1965). Neurologic abnormalities often overshadow the dermatologic lesions. Cerebellar ataxia may be present early
Society Transactions. Arch Dermatol. 1971;104(3):332-340. doi:10.1001/archderm.1971.04000210106027