PT - JOURNAL ARTICLE AU - Cherian, Mathew P. AU - Al-Sanna’a, Nouriya A. TI - Unusual occurrence of cystic fibrosis and alobar holoprosencephaly DP - 2008 Apr 01 TA - Neurosciences Journal PG - 169--173 VI - 13 IP - 2 4099 - http://nsj.org.sa/content/13/2/169.short 4100 - http://nsj.org.sa/content/13/2/169.full SO - Neurosciences (Riyadh)2008 Apr 01; 13 AB - Holoprosencephaly (HPE) is a defect of embryonic forebrain resulting from failure of growth and segmentation of the anterior end of the neural tube. It has been classified into 4 types based on the severity of associated brain and facial malformations. The most severe variety called alobar HPE is generally associated with major cranio-facial anomalies such as cyclopia, ethmocephaly, cebocephaly, or cleft-lip/palate. Significant etiological heterogeneity exists in HPE and includes both genetic and environmental causes. Maternal diabetes is a well-established environmental factor with a significant increased risk for HPE. We report on a Saudi Arab girl born to a diabetic mother, with the alobar type of holoprosencephaly, associated with very minimal cranio-facial defects. However, she displayed several other congenital malformations. In addition, she was diagnosed with cystic fibrosis. Simultaneous occurrence of cystic fibrosis and congenital anomalies has been rare.