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 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.


METHODS
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.
Department of Pediatrics, IRCCS Policlinico S. Matteo, University of Pavia, Piazzale Golgi, 2, 27100, Pavia, Italy. s.savasta@smatteo.pv.it
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S
Savasta
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Chiapedi
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Borali
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Perrini
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Sepe
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S
Caimmi
G L
GL
Marseglia
D005624:Frontal Bone / Q000002:abnormalities; D016142:Holoprosencephaly / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D006955:Hypernatremia / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male