BMJ Case Reports 2012; doi:10.1136/bcr-02-2012-5940
  • Rare disease

Pai syndrome: first reported case in Qatar and review of literature of previously published cases

  1. Nuha Nimeri2
  1. 1NICU Women's Hospital, Hamad Medical Corporation, Doha, Qatar
  2. 2Neonatal Research Fellowship Program, NICU Women's Hospital, Hamad Medical Corporation, Doha, Qatar
  1. Correspondence to Dr Nuha Nimeri, uha{at}

A full-term male baby born with severe complete median cleft lip and palate and multiple facial cutaneous polyps on the right nostril, left and right ears and angle of the mouth. Eye fundus examination revealed hypopigmented fundi, pigmented rings around both discs and hypopigmented maculae. Neurological, Cardiovascular and abdominal examination was unremarkable, with normal echocardiography and abdominal ultrasound. CT and MRI of the brain revealed hypogenesis of the corpus callosum and midline paracallosal lipomas and calcifications. Chromosomal study showed normal male 46, XY karyotype. This is the first reported case in Qatar and the second case in a patient of Arabian descent.

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