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Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis.

Angela LeeSamuel CortezPeter H YangDiane J AumPrapti SinghCatherine GoochMatthew Smyth
Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2021)
Hydrocephalus is a common feature of this condition, typically seen in conjunction with other systemic symptoms and laboratory findings. Our patient had a limited initial presentation of triventricular hydrocephalus with Chiari I malformation and was otherwise clinically asymptomatic. There is limited literature of such a presentation, and we highlight this case to increase awareness, as timely diagnosis of these patients is critical for treatment and future outcomes.
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