Osteopetrosis Associated with Hydrocephalus and Rickets: A Case Report
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Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we recently came upon a 14-month-old female as the 1st child of osteopetrosis with hydrocephalus and rickets. She has the typical symptoms such as nystagmus, osteosclerosis -especially in skull. Brain Magnetic Resonance Imaging (MRI), MRI shows hydrocephalus and x-ray finding are consistent with rickets. This is the first report of osteopetrosis with hydrocephalus and rickets in Korea by pediatrician.
Abstract
Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we recently came upon a 14-month-old female as the 1st child of osteopetrosis with hydrocephalus and rickets. She has the typical symptoms such as nystagmus, osteosclerosis -especially in skull. Brain Magnetic Resonance Imaging (MRI), MRI shows hydrocephalus and x-ray finding are consistent with rickets. This is the first report of osteopetrosis with hydrocephalus and rickets in Korea by pediatrician.
참고문헌 (14)
- Albers-Schonberg H, "Roentgenbilder einer seltenen Knochennerkrankung", Munch Med Wochenschr, 51, pp.365~ (1904)
- Karshner RG, "Osteopetrosis", Am. J. Roentgenol, 16, pp.405~ (1926)
- Loria-Cortes R, "Osteopetrosis in children : a report of 26 cases", J Pediatr, 91, pp.43~47 (1977)
- Kumar, "Basic Pathology", pp.26~767 (2012), Saunders Elsevier
- Al-Tamimi YZ, "Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding", J Neurosurg Pediatr, 1, pp.103~106 (2008)
- Gerritsen EJ, "Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the working party on inborn Errors of the European Bone Marrow Transplantation Group", J Pediatr, 125, pp.896~902 (1994)
- Fasth A, "Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation", Pediatr Transplant, 3(Suppl 1), pp.102~107 (1999)
- Kaplan FS, "Osteopetrorickets: The paradox of plenty. Pathophysiology and treatment", Clin Orthop Relat Res, 294, pp.64~78 (1993)
- Donnelly LF, "Infantile osteopetrosis complicated by rickets", AJR Am J Roentgenol, 164, pp.968~970 (1995)
- Shapiro F, "Osteopetrosis current clinical consideration", Clin Orthop Relat Res, 294, pp.34~44 (1993)
- Ozdirim E, "Osteopetrosis with rickets in infancy", Turk J Pediatr, 23, pp.211~218 (1981)
- Tolar J, "Osteopetrosis", N Engl J Med, 351, pp.2839~2849 (2004)
- Atay AA, "High Dose Calcitriol in Osteopetrorickets", J Pediatr Endocrinol Metab, 22, pp.1179~1183 (2009)
- Dorantes LM, "Juvenile osteopetrosis : effects on blood and bone of prednisone and a low calcium, high phosphate diet", Arch Dis Child, 61, pp.666~670 (1986)