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Holoprosencephaly with neurogenic hypernatremia: a new case
S Savasta1, S Chiapedi, E Borali
1Department of Pediatrics, IRCCS Policlinico S. Matteo, University of Pavia, Piazzale Golgi, 2, 27100, Pavia, Italy. s.savasta@smatteo.pv.it
Summary
Holoprosencephaly (HPE) is a common brain defect. A rare case presented with neurogenic hypernatremia, highlighting complex HPE manifestations and associated endocrine issues.
Area of Science:
- Developmental Neuroscience
- Human Genetics
- Pediatric Endocrinology
Background:
- Holoprosencephaly (HPE) is the most common forebrain and mid-face developmental defect, affecting 5-12/10,000 live births.
- It stems from a failure of forebrain cleavage during neural induction, leading to a spectrum of malformations.
- Associated conditions include various endocrinopathies and seizures.
Observation:
- A case of semilobar HPE is presented.
- The child exhibited microcephaly, spasticity, and cognitive/psychomotor delays.
- Facial dysmorphism and frontal bone hypoplasia were noted.
Findings:
- The patient developed neurogenic hypernatremia.
- Crucially, this occurred without clinical signs of dehydration.
- This suggests a specific complication of HPE impacting water balance.
Implications:
- This case underscores the diverse clinical spectrum of HPE.
- It highlights the potential for complex endocrine disturbances, such as neurogenic hypernatremia, in HPE patients.
- Further research into HPE's impact on neuroendocrine regulation is warranted.
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