====== Osteopetrosis ======

AKA “marble bone disease” (there is also some confusion with the term [[osteosclerosis]]; [[osteosclerosis fragilis generalisata]] is the obsolete term for [[osteopetrosis]]). A rare group of [[genetic disorder]]s of defective [[osteoclast]]ic [[resorption]] of bone resulting in increased [[bone density]], may be transmitted either as [[autosomal dominant]] or recessive
((Al-Mefty O, Fox JL, Al-Rodhan N, et al. Optic Nerve Decompression in Osteopetrosis. J Neurosurg. 1988; 68:80–84)).

The dominant form is usually benign and is seen in adults and adolescents. The recessive (“malignant”) form is often associated with consanguinity and is similar to hyperostosis cranialis interna, but in addition to the proclivity for the [[skull]], it also involves ribs, clavicles, long bones, and pelvis (long-bone involvement results in the destruction of marrow and subsequent anemia). Cranial nerves involved primarily include optic ([[optic atrophy]] and [[blindness]] are the most common neurologic manifestation), facial, and vestibulo-acoustic (with [[deafness]]); [[trigeminal nerve]] may also be involved. There may also be extensive [[intracranial calcification]]s, [[hydrocephalus]], [[intracranial hemorrhage]], and [[seizure]]s.
Bilateral optic nerve decompression via a [[supraorbital approach]] may improve or stabilize vision
((Al-Mefty O, Fox JL, Al-Rodhan N, et al. Optic Nerve Decompression in Osteopetrosis. J Neurosurg. 1988; 68:80–84)).
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An Exceptional Neurosurgical Presentation of a [[Patient]] with Osteopetrosis
((Isler C, Kayhan A, Ugurlar D, Hanimoglu H, Ulu MO, Uzan M, Erdincler P, Ozlen 
F. An Exceptional Neurosurgical Presentation of a Patient with Osteopetrosis.
World Neurosurg. 2018 Jun 20. pii: S1878-8750(18)31297-X. doi:
10.1016/j.wneu.2018.06.081. [Epub ahead of print] PubMed PMID: 29935324.
)).