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Semilobar Holoprosencephaly with Neurogenic Hypernatraemia; Two new cases

Author(s): Hashim Javad | Saif Al-Yarubi | Alexander P. Chacko | Dilip Sankhla | Amna Al-Futasi | Anas A. Abdelmogheth | Mohamed El-Naggari

Journal: Sultan Qaboos University Medical Journal : SQUMJ
ISSN 2075-051X

Volume: 13;
Issue: 3;
Start page: 463;
Date: 2013;
Original page

Keywords: Holoprosencephaly | Semilobar Holoprosencephaly | Hypernatremia | neurogenic | Hypodipsia | Midline | Malformations | Case Report | Oman.

Holoprosencephaly (HPE) is a developmental defect of the embryonic forebrain and midface. It is due to the non-cleavage of the embryonic forebrain into two cerebral hemispheres and the incomplete developmentof the paramedian structures. The overall prevalence is 1.31 per 10,000 births. The aetiology could be genetic, environmental, or both. HPE is classified into alobar, semilobar, and lobar subtypes based on the degree of separation of the cerebral hemispheres. We report two new cases of semilobar HPE with neurogenic hypernatraemia. Lack of thirst and hypodypsia associated with chronic hypernatraemia in patients with HPE is highly suggestive of neurogenic hypernatraemia. Early identification of neurogenic hypernatraemia is important as it improves with forced fluid therapy and does not require any medication.
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