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Article
January 1997

Pathological Case of the Month

Author Affiliations

From the Laboratoire de Génétique (Pr Livia Poenaru), Centre Hospitalier Universitaire Cochin Port-Royal, Université Paris V, Paris, France (Dr Germain); and the Medical Research Council Clinical Research Centre, London, England (Dr Pope).

Arch Pediatr Adolesc Med. 1997;151(1):97-98. doi:10.1001/archpedi.1997.02170380101018
Abstract

A HEALTHY 12-year-old girl was referred to her ophthalmologist after a routine ocular examination. The appearance of the retina was as shown (Figure 1). Two years later, central chest pain that radiated down her left arm with moderate exertion developed in the girl. An exercise electrocardiogram showed sustained ST-segment depression, indicating myocardial ischemia. The results of a thallium scan were normal. The girl was healthy for the next 5 years; after 5 years, her chest pain worsened and a left ventricular angiogram showed the left anterior descending coronary artery and the obtuse marginal branches of the circumflex artery filled retrogradely without discrete stenosis. No other abnormal physical signs were noted.

She had 3 siblings who were affected with a flexural skin rash, 1 of whom had died of severe gastrointestinal tract hemorrhage. Her younger sister showed cutaneous dimpling of the skin over the neck (Figure 2).

A hematoxylin-eosin–stained section (Figure

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