A 17-year-old previously unreported patient with Pai syndrome is described. The boy had median cleft of upper lip, a polypoid skin mass over the columella, a minimal cleft of the upper central incisors, frontal alopecia of the anterior hairline, and bifid nose. Magnetic resonance imaging showed pericallosal lipoma. No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.
Objective A 17-year-old previously unreported patient with Pai syndrome is described. The boy had median cleft of upper lip, a polypoid skin mass over the columella, a minimal cleft of the upper central incisors, frontal alopecia of the anterior hairline, and bifid nose. Magnetic resonance imaging showed pericallosal lipoma. No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.
We report lumbar and iliac artery aneurysms in a 3-month-old boy with Menkes' disease. The iliac artery aneurysm thrombosed spontaneously, documented by follow-up colour Doppler sonography. The lumbar artery aneurysm was successfully treated using a cover stent. There was no filling of the lumbar artery aneurysm and no stenosis of the cover stent during the 9-month follow-up.
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