Unusual occurrence of cystic fibrosis and alobar holoprosencephaly.
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.
Ras Tanura Health Center, Saudi Aramco, PO Box 1356, Ras Tanura 31311, Kingdom of Saudi Arabia. Tel. +966 (3) 6784822. Fax. +966 (3) 6784466. E-mail: mathew.cherian@aramco.com.
Mathew P
MP
Cherian
Nouriya A
NA
Al-Sanna'a