• Neonatal Medicine
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• v.28 no.3
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• pp.133-138
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• 2021

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

• Journal of the korean academy of Pediatric Dentistry
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• v.45 no.2
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• pp.257-264
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• 2018

Osteopetrosis is characterized by impaired osteoclast function and increased bone density. Infantile osteopetrosis is a severe form of the disease and has characteristics such as diffusely sclerotic skeleton, pancytopenia, cranial nerve entrapment, infection susceptibility, and abnormal craniofacial appearance. Patients with infantile osteopetrosis often experience developmental delay, and may have a short life span. A 14-month-old girl with osteopetrosis presented to the department of pediatric dentistry. Incipient caries on deciduous incisors were observed. The patient revisited 4 years of age. Besides medical problems, oral complications such as growth retardation, narrow upper arch, crowding, dental caries, and abnormal tooth development were observed. After consultation with her pediatrician, dental treatments were performed on the deciduous molars under sedation after a prophylactic antibiotic injection. At a periodic follow-up, multiple deciduous teeth were treated and extracted, and oralrehabilitation with a removable partial denture was initiated. Patient with osteopetrosis are highly susceptible to infection because of their compromised immune system and problems associated with wound healing that lead to osteomyelitis or sepsis development. Active participation in dental care for sugar intake management and proper oral hygiene are obligatory.

• Pediatric Infection and Vaccine
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• v.23 no.1
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• pp.72-76
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• 2016

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.2
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• pp.77-81
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• 2008

골화석증(Osteopetrosis)은 전신의 뼈가 대리석 모양으로 골 경화를 일으키며 골수강의 폐쇄 및 골의 취약성을 보이는 드문 질환이다. 성인형(Adult form)은 우성 유전되며 경미한 증상을 나타낸다. 반면에 유아형(Infantile form)은 열성 유전되면서 심각한 증상을 나타내고, 조기에 사망에 이를 수도 있다. 골화석증은 골격계, 조혈계, 신경계에서 다양한 증상을 유발한다. 본 증례의 목적은 드물게 발생하는 유아형 골화석증을 가진 2 명의 환아를 치료한 후, 그 질환과 치과적 관리에 대해 고찰하고자 함이다. 첫 번째 증례는 골화석증으로 진단된 5세 8개월 남환이었다. 임상 및 방사선 검진 결과 악골 및 치아의 변형을 나타내었으나, 특별한 병적 소견이 없어 예방 치료 및 주기적인 검진 시행하였다. 두 번째 증례는 중증도의 치아우식증을 가진 환아로 의료진과의 협조 하에 수혈한 후 발치하였다. 유아형 골화석증은 다양한 구강 합병증을 유발하며, 질환의 심각성에 의해 치료 자체도 어렵다. 치과의사로서 골화석증 환아를 관리할 때에는 건전한 구강 상태를 유지하기 위한 지속적인 관심과 예방 치료가 필요하며, 아무리 간단한 발치나 치과 술식이더라도 의료진과 협조를 해야 한다.

• Journal of the korean academy of Pediatric Dentistry
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• v.26 no.3
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• pp.473-478
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• 1999

Osteopetrosis is an uncommon hereditary bone condition characterized by a generalized symmetric increase in skeletal density and abnormalities of bone resorption remodeling. In 1904, the first case of generalized sclerosis of the skeleton was reported by $Albers-Sch\ddot{o}nberg$. Osteopetrosis is generally divided into two main type. The infantile(malignant, congenita) type is the most severe form of the disease; It is characterized by skeletal and hematologic abnormalities. The adult(benign, tarda) type which is usually diagnosed in the third or fourth decade of life is limited predominantly to skeletal anomalies and it carries a more favorable prognosis. The recently recognized intermediate form with its mild and variable clinical recessive trait. There is no reported gender or racial predilection. The characteristic feature of osteopetrosis which is an abscence of physiologic bone resorption results in accumulation of bone mass and mainfests skeletal disturbance. Dental finding of osteopetrosis includes delayed eruption, congenitally absent teeth, unerupted and malformed teeth, and enamel hypoplasia. Our report involves a patient with a chief complaint of tooth mobility and delayed eruption. After clinical and radiologic examination, this patient was referred to dept. of pediatrics under the suspicion of osteopetrosis and it was confirmed.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1129-1133
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• 2007

Osteopetrosis, a rare osteosclerotic bone disease characterized by a defect in osteoclast function and the reduced generation of superoxide by leukocytes, can be classified into several types based on their mode of inheritance, age of onset, severity, and associated clinical symptoms. Stem cell transplantation is the only curative therapy for the infantile malignant type, although alternative treatments, such as corticosteroids, calcitriol, and interferon (IFN)-${\gamma}$ have been attempted in patients with milder clinical types. In addition, IFN-${\gamma}$ therapy has been reported to increase bone resorption and hematopoiesis and to improve leukocyte function. Here, we present the cases of two patients with osteopetrosis who benefited from either 3 or 6 years of INF-${\gamma}$ therapy that resulted in improved blood counts and no further pathological fractures.