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

Stella, Irene; Vinchon, Matthieu; Guerreschi, P.; Berranger, Eva de; Bouacha, Ikram

doi:10.1007/s00381-017-3553-4

Cited by 14 publications

(13 citation statements)

References 20 publications

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“…When the marrow cavity and skull are involved, hematopoietic disorders and reflux of blood and cerebrospinal fluid may occur. Subsequent manifestations may include bone marrow anemia, leukocytopenia, thrombocytopenia, decreased haptoglobin, hydrocephalus, cerebellar tonsil hernia and cranial nerve compression (9,10).…”

Section: Discussionmentioning

confidence: 99%

Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature

et al. 2020

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Osteopetrosis is a rare congenital bone disorder, characterized by systemic osteosclerosis due to a deficiency of or functional defect in osteoclasts. Autosomal dominant osteopetrosis (ADOP) is the most common form with a late onset, a stable condition, relatively few symptoms and a good prognosis. Few studies to date have reported successful total hip arthroplasty (THA) in patients with ADOP and its operative difficulties. We herein describe a case of left hip osteoarthritis in a patient with OP via THA in order to share our experience during the treatment process. The patient was a 52-years-old female with osteopetrosis who was referred to our department due to a history of left hip pain with activity limitation for 20 years. The patient reported no history of fracture or family history. The patient underwent THA in the left hip. At the 6-month, 1-and 2-year follow-up, the components were in a good position and the patient remained asymptomatic and pain-free. Therefore, THA may be a feasible treatment option when patients with ADOP suffer from painful hip osteoarthritis.

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Section: Discussionmentioning

confidence: 99%

Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature

et al. 2020

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“…9 Exostoses can arise bilaterally from all surfaces of the temporal bone, and they often appear as smooth and continuous with surrounding cortical surfaces. 6,13,14 Although the exact pathogenesis of IAC exostoses is unknown, there are links between chronic inflammation and formation of exostoses in other anatomical locations. 15 For example, exostoses are commonly found in the external auditory canal (EAC) of surfers and swimmers exposed to cold water, and those suffering from frequent ear infections.…”

Section: Pathophysiologymentioning

confidence: 99%

“…15 For example, exostoses are commonly found in the external auditory canal (EAC) of surfers and swimmers exposed to cold water, and those suffering from frequent ear infections. [13][14][15] Preclinical work on guinea pigs has hinted at a correlation between cold irrigation of the EAC and accelerated bone formation. 13 However, the underlying pathophysiology of cold exposure has not yet been elucidated and is unlikely to be the sole driver behind the formation of IAC exostoses.…”

Section: Pathophysiologymentioning

confidence: 99%

“…5,17,18 Osteopetrosis is a rare metabolic disease that results in the formation of thick and brittle bone caused by osteoclastic dysfunction. 14,19 Osteopetrosis can affect the skull, causing thickening of the cranial vault, stenosis of the skull base foramina, and stenosis of the IAC. 14 The diagnosis of osteopetrosis can be made based on radiographic evidence of parallel bands of dense bone giving a "bone within bone" appearance on CT. 20 HCI and hyperostosis frontalis interna are diseases caused by thickening of cancellous bone within the inner table of the calvarium.…”

Section: Clinical Presentation and Evaluationmentioning

confidence: 99%

“…25 Other attributes of Paget's disease include macrocephaly and concentric thickening of the cranial vault. 14 CT is the imaging modality of choice to visualize and evaluate osteomas and exostoses of the IAC. On CT, both lesions appear as well demarcated and hyperdense bony outgrowths near or within the IAC.…”

Section: Clinical Presentation and Evaluationmentioning

confidence: 99%

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Internal Acoustic Canal Stenosis Due to Hyperostosis

Goodarzi

Toussi

Garza

et al. 2019

J Neurol Surg B Skull Base

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Background Exostoses and osteomas are benign, insidious lesions of the bone involving the internal acoustic canal (IAC). We present two cases of IAC exostoses managed with surgical decompression and review the clinical outcomes of previously reported cases in the literature. Methods A comprehensive search was conducted using PubMed Central, Web of Science Core Collection, and Google Scholar databases to identify previous reports of IAC exostoses and osteomas. A total of 26 reported cases were identified, and patient presenting symptoms, management strategies, and response to surgery was obtained when available. Results Of the 13 patients who underwent surgical decompression, 8 patients had resolution of vertigo symptoms, 10 patients had improvement of tinnitus symptoms, and all patients maintained some level of serviceable hearing. Conclusion IAC exostoses and osteomas are rare lesions that lead to insidious onset of debilitating symptoms from vestibulocochlear nerve dysfunction. Although the role of surgical decompression remains unclear, it appears that patients presenting with vertigo have more favorable response to surgical decompression as compared with those presenting with tinnitus and sensorineural hearing loss.

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How we approach malignant infantile osteopetrosis

Even‐Or

Stepensky

2020

Pediatric Blood & Cancer

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Malignant infantile osteopetrosis (MIOP) is a rare hereditary disorder characterized by excessive bone overgrowth due to a defect in bone marrow resorption by osteoclasts. In most cases, hematopoietic stem cell transplantation (HSCT) may correct bone metabolism but the rapidly progressing nature of this condition necessitates early diagnosis and prompt treatment to minimize irreversible cranial nerve damage. The management of patients with MIOP presents many unique challenges. In this review, the clinical management of patients with MIOP is discussed, including diagnosis, preparation for HSCT and special transplant considerations, management of unique HSCT complications, and long-term follow-up.

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

Cited by 14 publications

References 20 publications

Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature

Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature

Internal Acoustic Canal Stenosis Due to Hyperostosis

How we approach malignant infantile osteopetrosis

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