Semilobar Holoprosencephaly with Neurogenic Hypernatraemia Two new cases
Journal Title: Sultan Qaboos University Medical Journal - Year 2013, Vol 13, Issue 3
Abstract
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 development of the paramedian structures. Te overall prevalence is 1.31 per 10,000 births. Te aetiology could be genetic, environmental, or both. HPE is classifed 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 identifcation of neurogenic hypernatraemia is important as it improves with forced fluid therapy and does not require any medication.
Authors and Affiliations
Hashim Javad| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Saif Al-Yarubi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Alexander P. Chacko| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Dilip Sankhla| Departments of Radiology & Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman, Amna Al-Futasi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Anas A. Abdelmogheth| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Mohamed El-Naggari| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis
Objectives: Tanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydact...
Re: Stress in the Medical Profession and its Roots in Medical School
Pathophysiology of obstructive sleep apnoea syndrome: a review
Sleep apnoea syndrome is a common disorder and a major health hazard that affects many body systems. It is particularly associated with increased cardiovascular and cerebrovascular morbidity and mortality. Among its oth...
Advances in Glomerular Filtration Rate Estimation
The Pattern of Female Nuptiality in Oman
Objectives: Te purpose of this study was to examine Omani patterns of female nuptiality, including the timing of marriage and determinants of age at a woman’s frst marriage. Methods: Te study utilised data from the 2...