Case update on cranial osteopetrosis: which is the role of the neurosurgeon?

Document type :

Article dans une revue scientifique: Article original

DOI :

10.1007/s00381-017-3553-4

PMID :

Permalink :

http://hdl.handle.net/20.500.12210/84191

Title :

Case update on cranial osteopetrosis: which is the role of the neurosurgeon?

Author(s) :

Stella, Irène [Auteur]
Hôpital Roger Salengro [Lille]
Vinchon, Matthieu [Auteur]

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Guerreschi, Pierre [Auteur]

Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
De Berranger, Eva [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Bouacha, Ikram [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]

Journal title :

Child's Nervous System

Abbreviated title :

Childs Nerv. Syst.

Volume number :

33

Pages :

2181-2186

Publisher :

Springer Link

Publication date :

2017-08-27

ISSN :

0256-7040

English keyword(s) :

Hydrocephalus
Albers-Schomberg
Craniostenosis
Osteoclasts

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Purpose Osteopetrosis (OP) is a rare skeletal disease, which can affect the skull base and calvaria. A multidisciplinary approach is mandatory and patient may need neurosurgical care. Few observations have been published, ...
Show more >Purpose Osteopetrosis (OP) is a rare skeletal disease, which can affect the skull base and calvaria. A multidisciplinary approach is mandatory and patient may need neurosurgical care. Few observations have been published, and optimal management of OP is not established yet. Method We report a case of an infant with OP diagnosed at 5 months, who presented signs of intracranial hypertension associated with unilateral blindness. Bone marrow allograft was performed at 6 months of age. At neurosurgical first examination at 11 months, the child was hypotonic, with severe amblyopia; features of bicoronal synostosis were appreciated, with tense anterior fontanel bulging indicating synostotic oxycephaly. Head circumference had decreased from +3 SD to +1SD. Cerebral CT scan showed reduction of intracranial volume, inward thickening of the calvaria, bilateral stenosis of optic canal, ventricular dilatation, enlarged arachnoid spaces, and tonsillar herniation. We performed cranial vault expansion with frontal advancement and bi parietal decompression, thinning of the inner table, unroofing of the left orbit and optic canal in order to obtain optic nerve decompression. Results Postoperative course was uneventful, and the patient was discharged on day 8. Vision was unchanged but rapid improvement of axial tonus was noted. The CT scan showed satisfactory calvarial expansion with regression of tonsillar herniation. Conclusions Neurosurgical evaluation and care are necessary in the context of a multidisciplinary approach to the patient affected by osteopetrosis. Cranial vault remodeling and expansion should be considered in patients with sign of intracranial hypertension. Timing of optic canal decompression is to be defined.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
CHU Lille

Collections :

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2023-06-05T07:48:22Z
2024-06-19T09:13:38Z

Version history