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Published on: February 29, 2020
Unusual occurrence of cystic fibrosis and alobar holoprosencephaly
Mathew P Cherian1, Nouriya A Al-Sanna'a
1Ras Tanura Health Center, Saudi Aramco, PO Box 1356, Ras Tanura 31311, Kingdom of Saudi Arabia. Tel. +966 (3) 6784822. Fax. +966 (3) 6784466.
Abstract:
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.
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