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Dominique P. Germain, MD; F. Michael Pope, MD

Arch Pediatr Adolesc Med. 1997;151(1):97-98.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 . . . [Full Text PDF of this Article]

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).

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