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Picture of the Month—Quiz Case FREE

Shayna Burke, MD; April O. Buchanan, MD; Natasha Shur, MD; Katarina Gambosova, MD; Gita V. Harappanahally, MD; J. B. Quintos, MD
[+] Author Affiliations

Section Editor: Samir S. Shah, MD
Author Affiliations:Rhode Island Hospital, The Warren Alpert Medical School of Brown University, Providence (Drs Burke, Shur, Gambosova, Harappanahally, and Quintos); and Children's Hospital, Greenville Hospital System University Medical Center, University of South Carolina School of Medicine, Greenville (Dr Buchanan).


Arch Pediatr Adolesc Med. 2010;164(1):97. doi:10.1001/archpediatrics.2009.245-a.
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A 16-year-old male patient presented with slurred speech, somnolence, and hypotension after a diagnosis of streptococcal pharyngitis 3 days earlier. He had significantly darker skin than his family members (Figure 1). During the prior year, his athletic abilities had deteriorated. He also frequently complained of fatigue. His medical history was significant for a diagnosis of attention-deficit/hyperactivity disorder and several hospitalizations for dehydration. The family history was notable for several great-grandmothers who had dementia, and deaths in 3 of the maternal great-grandmother's sons at ages 5, 6, and 7 years, raising concern for an X-linked disease with female carriers and affected males (Figure 2).

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Figure 1.

Generalized hyperpigmentation of the patient compared with his family.

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Figure 2.

Patient's family pedigree.

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On physical examination, the patient's height was 170 cm (25th-50th percentile), his weight was 50 kg (tenth percentile), and his head circumference was 52 cm (tenth percentile). His blood pressure lying down and sitting was 92/46 mm Hg and 77/56 mm Hg, respectively. He was cachectic with a generalized tan and had mucosal pigmentation of his lower lip (Figure 3). He had bilateral hammer toes and talipes cavus. A neurological examination revealed poor attention, concentration, and recall and spasticity of the lower extremities. He had brisk deep tendon reflexes with bilateral ankle clonus and decreased vibration and position sense in his feet. He was unable to walk standing fully upright without using support and had bilateral footdrop.

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Figure 3.

Mucosal pigmentation of the patient's lower lip.

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Figures

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Figure 1.

Generalized hyperpigmentation of the patient compared with his family.

Graphic Jump Location
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Figure 2.

Patient's family pedigree.

Graphic Jump Location
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Figure 3.

Mucosal pigmentation of the patient's lower lip.

Graphic Jump Location

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The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
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