Holoprosencephaly with neurogenic hypernatremia: a new case

Background Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and mid-face in humans. It is a disorder of neural induction in which a genetic programming defect results in noncleavage of the forebrain in the sagittal plane and variable hypoplasia of paramedian structure...

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Bibliographic Details
Published in:Child's nervous system 2008-01, Vol.24 (1), p.139-142
Main Authors: Savasta, S., Chiapedi, S., Borali, E., Perrini, S., Sepe, V., Caimmi, S., Marseglia, G. L.
Format: Article
Language:English
Subjects:
Case Report
Frontal Bone - abnormalities
Holoprosencephaly - complications
Holoprosencephaly - diagnosis
Humans
Hypernatremia - etiology
Infant, Newborn
Male
Medicine
Medicine & Public Health
Neurosciences
Neurosurgery
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Summary:Background Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and mid-face in humans. It is a disorder of neural induction in which a genetic programming defect results in noncleavage of the forebrain in the sagittal plane and variable hypoplasia of paramedian structures. It occurs in 5–12/10,000 live births. Clinically, there is a nearly continuous spectrum of malformations consistent with HPE. Endocrinopathies, such as diabetes insipidus, hypothyroidism, hypocorticism, and growth hormone deficiency, are frequently associated with HPE. Seizures may occur. Case report We report a new case of semilobar-HPE complicated by neurogenic hypernatremia and no signs of dehydration in a child with microcephaly, spasticity, mental and psychomotor retardation, frontal bones hypoplasia, and mild facial dysmorphism.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-007-0431-5