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.