A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage

Ali, Aiman; Arif, Taha Bin; Khan, Sohail Ahmed; Fatima, Fasiha; Abbasi, Rabia Sehar

doi:10.7759/cureus.9234

Cited by 2 publications

(2 citation statements)

References 16 publications

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“…It is divided into two forms as autosomal dominant osteopetrosis, and autosomal recessive osteopetrosis. Autosomal dominant osteopetrosis occurs in approximately 1 in 20,000 births [21]. There is usually recurrent persistent headache and accompanying evidence of papilledema supporting increased intracranial pressure at the base of the eye [4].…”

Section: Clinical Presentationmentioning

confidence: 99%

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Decompressive Cranioplasty using Titanium Mesh in a Patient with Osteopetrosis: A case-based Reviews.

Demirel

Köksal

2022

Preprint

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Introduction: Osteopetrosis is an inherited disease that causes thickening of the cranial bone. The need for both cerebral decompression and intracranial volume-enlarging cranioplasty in the same surgical session in a patient whose intracranial pressure is elevated cannot be prevented and is a very rare decision in neurosurgery practice. It is seen in the literature that the only indication that can lead to this surgery is osteopetrosis. Case report: A 24-year-old female patient with osteopetrosis admitted with the complaint of severe headache that did not respond to medical treatment, and surgery was decided. After decompressive craniectomy was performed with difficulties, cranioplasty with titanium mesh was performed in the same session to protect the cerebral tissue, to close the defect area, and to give more space to the cerebral tissue. Conclusions: It was observed that the complaints of increased intracranial pressure were completely resolved with unilateral cranial decompression in the early postoperative period and at the end of 2 years. The surgical intervention technique performed on the patient and the radiological findings obtained during the follow-up are presented. We think that performing cranioplasty with titanium mesh, which is used to protect and save the cerebral tissue in patients with osteopetrosis, is the most appropriate choice.

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Section: Clinical Presentationmentioning

confidence: 99%

“…Symptoms are observed in late childhood and adulthood. Occurring in approximately 1 in 200,000-300,000 births, autosomal recessive form has a poor prognosis and is also known as the infantile form [21]. The diagnosis of osteopetrosis is usually made with the combination of progressive clinical and radiological ndings.…”

Section: Diagnosismentioning

confidence: 99%

Decompressive Cranioplasty using Titanium Mesh in a Patient with Osteopetrosis: A case-based Reviews.

Demirel

Köksal

2022

Preprint

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Managing challenging pain and irritability inOSTM1mutation-related infantile malignant osteopetrosis

Alotaibi

Dighe

2021

BMJ Case Rep

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Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The malignant infantile autosomal recessive (MIOP) form caused by mutations in OSTM1 is the most severe form of osteopetrosis. Children with this phenotype exhibit multisystemic complications, of which the neuropathic manifestations are the most severe. Infants with MIOP may present with pain and irritability that are likely to become continuous and debilitating as the disease progresses. There is limited understanding of the aetiology and management of pain in MIOP. Here, we describe a 2 month-old infant with OSTM1 mutation-related MIOP presenting with severe irritability and pain. This case provides the opportunity to discuss the cause and management of these distressing symptoms. We also review similar cases and the possible underlying mechanisms of pain and irritability to help provide a conceptual framework for the management of these symptoms in infants with OSTM1 MIOP.

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A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage

Abstract: Ali et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Cited by 2 publications

References 16 publications

Decompressive Cranioplasty using Titanium Mesh in a Patient with Osteopetrosis: A case-based Reviews.

Decompressive Cranioplasty using Titanium Mesh in a Patient with Osteopetrosis: A case-based Reviews.

Managing challenging pain and irritability inOSTM1mutation-related infantile malignant osteopetrosis

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