Neurosurgical considerations in osteopetrosis

Publication date: June 2020Source: Interdisciplinary Neurosurgery, Volume 20Author(s): Adrian Kelly, Aftab Younus, Patrick LekgwaraAbstractOsteopetrosis is a metabolic bone disease resulting in skeletal hyper-sclerosis. Three major genetic subtypes of the disease are phenotypically expressed into three distinguishable forms of the disease, each dictating specific management. Autosomal recessive “severe” osteopetrosis occurs secondary to defective osteoclastic resorption of immature bone. Regarding the neurosurgical considerations in this group cranial concerns rather than spinal symptoms often predominate. Visual deterioration is the most frequent presenting complaint often beginning within the first few months of life. A secondary complication is hearing loss which is estimated to affect op to 78% of children within their first year of life. Here neurosurgical interventions for foraminal bony encroachment is of little long-term benefit with a more favourable outcome is seen with medical therapies. The autosomal recessive “intermediate form” of osteopetrosis is frequently not evident at birth and has a milder more protracted clinical course with individuals often surviving into adulthood. Labelled marble brain disease several case reports note the association between this form of the disease and intracranial calcifications and subsequent neuronal degeneration. Neurosurgical interventions have a beneficial role here but must be exercised in a patient specific manner. A...

Source: Interdisciplinary Neurosurgery - February 11, 2020 Category: Neurosurgery Source Type: research