Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea

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.

Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea

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.

A Case of Infantile Fungal Urinary Tract Infection

Urinary tract infection is common in the pediatric population. The most common causative agents are bacteria, among which Escherichia coli is the most frequent uropathogen. Although fungal urinary tract infection is rare in the healthy pediatric population, it is relatively common among hospitalized patients. Fungus may be isolated from the urine of immunocompromised patients or that of patients with indwelling catheters. The most common cause of funguria is Candida albicans. Although more than 50% of Candida isolates belong to non-albicans Candida , the prevalence of non-albicans candiduria is increasing. Herein, we report a case of community-acquired candiduria in a 4-month-old immunocompetent male infant who had bilateral vesicoureteral reflux and was administered antibiotic prophylaxis. He was diagnosed with urinary tract infection caused by Candida lusitaniae and was managed with fluconazole.

Association of the Metabolic Syndrome and Bone Mineral Density in Postmenopausal Women / 가정의학회지

BACKGROUND: The metabolic syndrome (MS) is a cluster of risk factors of cardiovascular disease. The association between components of the MS and bone mineral density has been researched, but no prior studies have directly evaluated the association with the metabolic syndrome and bone mineral density in Korea. METHODS: We evaluated postmenopausal women who had visited a university hospital from November 2006 to October 2007. Data on their lifestyle, current medical diseases and medications were collected from medical records. Height, body weight, waist circumference and serum lipid profiles were measured. RESULTS: The prevalence of metabolic syndrome was 21.8% in this study. In adjusted analysis including age and other factors, only waist circumference had a close correlation with bone mineral density of femur and lumbar vertebral body (P < 0.05). The bone mineral density of femur and lumbar vertebral body had no correlation with the presence of metabolic syndrome. When stratified by body mass index, corrected bone mineral density revealed no significant correlation with the presence of metabolic syndrome. CONCLUSION: The bone mineral density of postmenopausal women with metabolic syndrome has highly influenced by obesity, especially by abdominal obesity.

Association of the Metabolic Syndrome and Bone Mineral Density in Postmenopausal Women / 가정의학회지

BACKGROUND: The metabolic syndrome (MS) is a cluster of risk factors of cardiovascular disease. The association between components of the MS and bone mineral density has been researched, but no prior studies have directly evaluated the association with the metabolic syndrome and bone mineral density in Korea. METHODS: We evaluated postmenopausal women who had visited a university hospital from November 2006 to October 2007. Data on their lifestyle, current medical diseases and medications were collected from medical records. Height, body weight, waist circumference and serum lipid profiles were measured. RESULTS: The prevalence of metabolic syndrome was 21.8% in this study. In adjusted analysis including age and other factors, only waist circumference had a close correlation with bone mineral density of femur and lumbar vertebral body (P < 0.05). The bone mineral density of femur and lumbar vertebral body had no correlation with the presence of metabolic syndrome. When stratified by body mass index, corrected bone mineral density revealed no significant correlation with the presence of metabolic syndrome. CONCLUSION: The bone mineral density of postmenopausal women with metabolic syndrome has highly influenced by obesity, especially by abdominal obesity.