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Osteopetrosis (OP) is a heterogeneous group of rare, heredity bone disorders with variable clinical features involving the bones of the body. OP is characterized by increased bone density, which is caused by aberrant osteoclast-mediated bone resorption. This syndromic disorder comes with a series of problems and, unless recognized and treated early, can lead to a multitude of further grave complications. We report a rare case of a female patient who reported chronic unhealed extraoral draining sinus present over the left submandibular region with pathologic fracture of the left mandibular angle, which, if, was diagnosed early with the identification of the osteopetrosis syndrome, could have been managed more conservatively., Competing Interests: The authors report no conflicts of interest., (Copyright © 2024 by Mutaz B. Habal, MD.)

Wiskott-Aldrich syndrome (WAS) and osteopetrosis are 2 different, rare hereditary diseases. Here we report clinical and molecular genetics investigations on an infant patient with persistent thrombocytopenia and prolonged fever. He was clinical diagnosed as osteopetrosis according to clinical presentation, radiologic skeletal features, and bone biopsy results. Gene sequencing demonstrated a de novo homozygous mutation in 5'-untranslated region of TNFRSF11A, c.-45A>G, which is relating to osteopetrosis. Meanwhile, a hemizygous transition mutation in WAS gene, c.400G>A diagnosed the infant with WAS. This is the first clinical report for the diagnosis of osteopetrosis coinheritance with WAS in a single patient., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc.)

Osteopetrosis represents a heterogeneous group of rare, hereditary bone disorders with variable clinical features, and an increase in bone density. Osteomyelitis of the jaws is a significant complication of osteopetrosis. In this article, a reported patient with osteopetrosis complicated by osteomyelitis of the mandible was examined. The patient was treated with intravenous antibiotic therapy, debridement of necrotic bone and hyperbaric oxygen therapy; in addition, the authors attempted to implant the calcium sulfate and vancomycin to reconstruct the bone defect. The patient demonstrated satisfactory healing, and no recurrence of osteomyelitis was observed during the 6-month follow-up period. The treatment of osteopetrosis complicated by osteomyelitis of the mandible is difficult. The treatment of osteopetrosis complicated by osteomyelitis is controversial. The authors recommend the following sequential treatment of osteopetrosis complicated by osteomyelitis of the mandible: systemic antibiotic therapy and hyperbaric oxygen therapy before and after surgery; debridement of the necrotic bone; sufficient periosteal coverage and adequate soft tissue to cover the wound; implantation with calcium sulfate and vancomycin to reconstruct the bone defect as much as possible, which may be helpful in treating the disease.

Osteopetrosis is a heterogeneous disorder characterized by abnormal bone remodeling and increased bone density primarily due to defective osteoclast resorption. The diagnosis is based on a history of numerous fractures and radiological findings indicative of osteosclerosis, usually sufficient for a definitive diagnosis. We present a quite rare case of osteopetrosis complicated by recurrent episodes of maxillomandibular osteomyelitis associated with cutaneous fistulization and purulent nasal discharge. We used intravenous antibiotic therapy and necrotic bone debridement that prevented the appearance of acute infections over a 3-year follow-up, but the complete healing of the case was not achieved.

Malignant infantile osteopetrosis (MIOP) is a rare disorder caused by dysfunctional osteoclasts. The classic MIOP features, such as frontal bossing, micrognathia, and small thorax, may place these children at risk for developing obstructive sleep apnea (OSA) and chronic hypoxemia. To objectively document OSA, airway evaluations were performed; results impacted management. We reviewed the records of 7 MIOP patients treated at St Jude. Six underwent polysomnograms during prehematopoietic stem cell transplantation (HSCT) evaluation. To determine the existence of a relationship between OSA and radiologic imaging, initial chest radiographs and bone mineral density studies were reviewed. Pre-HSCT patients had a median apnea-hypopnea index of 17.51 (normal, 0 to 2), with <25% being central events, thus indicating OSA. The median minimal oxygen saturation was 79%, indicating intermittent hypoxemia. Neither chest radiographs nor bone mineral density correlated with severity of OSA. Four patients received tracheostomies before or during HSCT. Three surviving children underwent polysomnograms 1 year after HSCT, and median apnea-hypopnea index was 1.3, indicating near to complete resolution of OSA. Resolution of OSA may have been multifactorial. Using a quantitative approach, we demonstrate that MIOP children have OSA and hypoxemia; thus, these children should have airway evaluations and treatments to potentially reduce the risk of life-threatening pulmonary complications.

Aims: To investigate the serum creatine kinase isoenzyme pattern, specific biochemical markers of bone metabolism, and cytokines in a Chinese family with osteopetrosis, and correlate abnormalities with the pathophysiology of this condition., Methods: A Chinese female baby was diagnosed with malignant infantile osteopetrosis at the age of 3 weeks by clinical history and biochemical investigations. We studied the laboratory and radiological manifestations of this index case and her family members., Results: Serum CK-BB fraction of our index patient was elevated to 18.0% (normal 1.6-7.6%). Her biochemical markers of bone resorption including serum C-terminal telopeptide concentration and urine N-terminal telopeptide to creatinine ratio were decreased to 0.54 microg/L (normal 0.72-1.56 microg/L) and 159 x 10(-6) (normal 372-900 x 10(-6)), respectively. Serum cytokines including soluble receptor activator of nuclear factor kappa-B ligand (sRANKL) concentration was suppressed to 0.11 pmol/L (normal 0.23-0.82 pmol/L) and osteoprotegerin (OPG) concentration was 4.9 pmol/L (normal 2.8-4.9 pmol/L), resulting in an elevated OPG to sRANKL ratio of 44.5 (normal 3.8-19.4) in favour of bone formation., Conclusions: If left untreated, this condition is usually fatal within the first year of life. With early diagnosis, management including bone marrow transplantation can be planned ahead and will result in a better survival.