Raine’s syndrome: rare disease from neurosurgical perspective

Raine’s syndrome (RS) is a rare genetic disorder. Only 25 cases are in literature. Occurs due to genetic mutation resulting in deranged bone metabolism. Few cases are reported discussing the neurosurgical ramifications of the disease. We report a child diagnosed with RS. He was presented with multis...

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Bibliographic Details
Published in:Child's nervous system 2024, Vol.40 (1), p.11-17
Main Authors: Elmaghraby, Mostafa, Abrar, Sahibzada, Kanangi, Santosh Mohan Rao, Parks, Christopher, Duncan, Christian, Richardson, David, Sinha, Ajay
Format: Article
Language:English
Subjects:
Case-based Review
Medicine
Medicine & Public Health
Neurosciences
Neurosurgery
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Description
Summary:Raine’s syndrome (RS) is a rare genetic disorder. Only 25 cases are in literature. Occurs due to genetic mutation resulting in deranged bone metabolism. Few cases are reported discussing the neurosurgical ramifications of the disease. We report a child diagnosed with RS. He was presented with multisutural synostosis requiring craniofacial intervention with two vault expansions. Additionally, required VP shunt due to hydrocephalus. We consider our case unique among reports of RS, as our patient has survived for 10. He died due to valve obstruction of the VP shunt. We also present a review of relevant medical literature.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-023-06174-x