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A case history of ataxia-telangiectasia has been presented. A corrosion model was prepared from the left lung and was dissected and studied under the stereomicroscope. Saccular bronchiectasis was found in many bronchi and bronchioles. However, those terminal bronchioles and structures peripheral to it which were derived from bronchiectatic bronchi showed constrictions rather than dilatations. Alveoli in such areas appeared deformed, but apparently still functioning since normal capillary networks could often be demonstrated. Constrictions at the point of branching of small peripheral pulmonary artery branches were frequently seen. Serial histologic sections revealed the presence of cushions at the points of constriction. Another vascular abnormality consisted of numerous anastomoses between smaller branches of the pulmonary artery forming networks of seemingly useless loops. In some areas, the capillaries appeared dilated, were club-shaped and had aneurysm-like dilatations.

SUMMARYAn Amerindian girl with Friedreich’s ataxia presented at the age of 14 years with intermittent bifrontal headaches and abdominal aching, often associated with nausea and recurrent vomiting and an evanescent pink, blotchy rash on the upper trunk. In these attacks she also had hypertension up to 210/160 mm Hg. Renal function studies, including intravenous pyelogram and angiography, were normal. Plasma renin activity (2.5 ng/ml/hr) was also normal. Total body CT scan was negative for phaeochromocytoma, and repeated estimations of 24-hour excretion of urinary VMA were normal or borderline high. Levels of total catecholamines in 24-hour urine were normal twice, but two random specimens during the paroxysmal episodes contained abnormally high levels of norepinephrine and dopamine. Plasma catecholamine concentrations were increased but not as high as with phaeochromocytoma. Blood pressure monitoring demonstrated marked fluctuations with position and temperature. A clonidine suppression test showed a substantial fall of plasma catecholamine levels, consistent with dysautonomia and not with phaeochromocytoma. It is concluded that the patient has dysautonomia of central origin, probably as a manifestation of Friedreich’s ataxia. These findings are discussed in relation to the recent demonstration of increased levels of plasma catecholamines in that disease.