Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review

Cuyper, Elise De

doi:10.5152/iao.2021.21266

Cited by 4 publications

(3 citation statements)

References 31 publications

(150 reference statements)

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“…Mutations in numerous genes have been detected as an aetiology for OP. OP has the potential to be inherited in an autosomal dominant manner, autosomal recessive inheritance (which includes the malignant infantile type) or via an X-linked recessive pattern 6…”

Section: Discussionmentioning

confidence: 99%

Maxillary osteomyelitis in a young female with osteopetrosis: unveiling an uncommon connection

Chawla,

Yerragudi,

Arumulla

et al. 2023

BMJ Case Rep

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Osteopetrosis encompasses a spectrum of conditions marked by heightened bone density due to faulty osteoclast-mediated bone resorption, leading to an accumulation of immature bone and thickened cortical structures. This condition gives rise to bone fragility, blood cell irregularities, nerve entrapment and growth challenges, all stemming from disrupted bone remodelling. Craniofacial distinctiveness, encompassing anomalies in the skull and jaw, is a frequent occurrence. Osteopetrosis presents a range of clinical signs, including facial and dental anomalies. The diagnostic process involves thorough clinical and radiological assessments, often obviating the need for genetic testing. Interestingly, few prior reports have delved into the specifics of craniofacial and dental issues in osteopetrosis. The presented case showcases rare occurrence of maxillary osteomyelitis. The diagnosis was established through a combination of history, clinical, radiographic and laboratory findings. The patient declined surgical intervention, leading to the implementation of conservative management involving regular irrigation alongside systemic antibiotic therapy.

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Section: Discussionmentioning

confidence: 99%

Maxillary osteomyelitis in a young female with osteopetrosis: unveiling an uncommon connection

Chawla,

Yerragudi,

Arumulla

et al. 2023

BMJ Case Rep

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“…Osteoclast-rich osteopetrosis is caused by mutations in genes responsible for lacunar acidification, resorption and pH regulation (TCIRG1, CLCN7, OSTM1 and CAII ), vesicular transport and sorting of protein complexes to the membrane (SNX10 and PLEKHM1), lysosomal nucleoside transport (SLC29A3) cytoskeletal rearrangement for "corrugated edge" formation (KINDLIN3, integrin-β and LRRK1) and lysosomal proteolytic cleavage for bone remodeling and resorption (CTSK), for signal transduction and osteoclast function (MITF, TRAF6, RELA and NEMO) (De Cuyper et al, 2021;Penna et al, 2021).…”

Section: Molecular Pathogenesis Of Different Forms Of Osteopetrosismentioning

confidence: 99%

Clinical, genetic aspects and molecular pathogenesis of osteopetrosis

Надыршина

Хусаинова

2023

Vestn. VOGiS

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Osteopetrosis (“marble bone”, ICD-10-78.2) includes a group of hereditary bone disorders distinguished by clinical variability and genetic heterogeneity. The name “osteopetrosis” comes from the Greek language: ‘osteo’ means ‘bone’ and ‘petrosis’ means ‘stone’, which characterizes the main feature of the disease: increased bone density caused by imbalances in bone formation and remodeling, leading to structural changes in bone tissue, predisposition to fractures, skeletal deformities. These defects, in turn, affect other important organs and tissues, especially bone marrow and the nervous system. The disease can be autosomal recessive, autosomal dominant, X-linked or sporadic. Autosomal dominant osteopetrosis has an incidence of 1 in 20,000 newborns and autosomal recessive one has 1 in 250,000. To date, 23 genes have been described, structural changes in which lead to the development of osteopetrosis. Clinical symptoms in osteopetrosis vary greatly in their presentation and severity. The mildest skeletal abnormalities are observed in adulthood and occur in the autosomal dominant form of osteopetrosis. Severe forms, being autosomal recessive and manifesting in early childhood, are characterized by fractures, mental retardation, skin lesions, immune system disorders, renal tubular acidosis. Clinical examination and review of radiographs, bone biopsy and genetic testing provide the bases for clinical diagnosis. The early and accurate detection and treatment of the disease are important to prevent hematologic abnormalities and disease progression to irreversible neurologic consequences. Most patients die within the first decade due to secondary infections, bone marrow suppression and/or bleeding. This article summarizes the current state of the art in this field, including clinical and genetic aspects, and the molecular pathogenesis of the osteopetrosis.

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“…This results in excessive deposition of immature bone, thickening of the cortical bones, and failure of the outgrowth of spaces in the cranial vault. 2 Mutations in many different genes have been identified. Osteopetrosis may be inherited in autosomal dominant osteopetrosis (ADO) or the adult type, autosomal recessive osteopetrosis (ARO), malignant infantile type, or X-linked recessive pattern.…”

Section: Introductionmentioning

confidence: 99%

Radiological signs in osteopetrosis

Kumar

Singh

2023

Int J Contemp Pediatr

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Osteopetrosis, or marble bone disease, is a rare genetic metabolic bone disease initially described by Albers-Schönberg in 1904. Osteopetrosis includes a clinically heterogeneous group of conditions characterized by increased bone density due to a defect in bone resorption by osteoclasts. The osteoclasto-genesis as well as the osteoclastic activity may be distorted. Clinical symptoms of osteopetrosis vary greatly in their presentation and severity as the spectrum ranges from the neonatal onset with life-threatening complications to incidental findings of osteopetrosis on radiographs. Diagnosis is based on clinical and radiographic evaluation, confirmed by bone biopsy and genetic testing. Treatment depends on the symptoms and severity of the disease and requires a multidisciplinary team approach.

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Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review

Cited by 4 publications

References 31 publications

Maxillary osteomyelitis in a young female with osteopetrosis: unveiling an uncommon connection

Maxillary osteomyelitis in a young female with osteopetrosis: unveiling an uncommon connection

Clinical, genetic aspects and molecular pathogenesis of osteopetrosis

Radiological signs in osteopetrosis

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