title: A case report of malignant infantile osteopetrosis.
abstract: BACKGROUND
  Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within the first decade of life because of secondary infections. Stem cell transplantation (SCT) remains the only curative therapy.
  
  
  METHODS
  We report a two-month old male infant, diagnosed as MIOP while investigating the cause of hepatosplenomegaly. The patient was referred for stem cell transplantation.
  
  
  CONCLUSIONS
  Malignant infantile osteopetrosis should be kept in mind as a rare cause of hepatosplenomegaly and the patient should be referred for stem cell transplantation before neurologic or visual impairment develops.
authors: Department of Pediatric Gastroenterology, Sisli Etfal Education and Research Hospital, Istanbul, Turkey.
authors: Merve
authors: M
authors: Usta
authors: Seda Geylani
authors: SG
authors: Gulec
authors: Serap
authors: S
authors: Karaman
authors: Ela
authors: E
authors: Erdem
authors: Hicran
authors: H
authors: Emral
authors: Nafiye
authors: N
authors: Urgancı
keywords: Hepatomegaly; Infant; Osteopetrosis; Splenomegaly
references: Eur J Endocrinol. 1996 Feb;134(2):143-56
references: 8630510
references: Indian Pediatr. 1999 Jan;36(1):69-74
references: 10709125
references: J Pediatr Hematol Oncol. 2005 Sep;27(9):495-8
references: 16189444
references: Eur J Pediatr. 2009 Dec;168(12):1449-54
references: 19238435
references: Bone. 2008 Jan;42(1):19-29
references: 17936098
references: Med J Armed Forces India. 2003 Oct;59(4):344-6
references: 27407559
references: Pediatrics. 1994 Feb;93(2):247-53
references: 8121736
references: Clin Orthop Relat Res. 1993 Sep;(294):34-44
references: 8358940
references: Pediatr Hematol Oncol. 1994 May-Jun;11(3):337-8, 345
references: 8060818