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