title: Cerebellar swelling due to familial hemophagocytic lymphohistiocytosis: An unusual presentation.
abstract: BACKGROUND
  Cerebellar swelling with obstructive hydrocephalus is a rare but life threatening condition, associated with different etiologies, familial hemophagocytic lymphohistiocytosis (HLH) being rarely one of them.
  
  
  METHODS
  2-year-7-month old boy presented with irritability, cerebellar dysfunction, and somnolence. Brain MRI showed marked diffuse cerebellar swelling and obstructive hydrocephalus with mild tonsillar herniation. Laboratory testing revealed pancytopenia, elevated liver enzymes, elevated ferritin and triglycerides levels and decreased fibrinogen. The diagnosis of familial HLH was confirmed by the presence of homozygous missense mutation of Syntaxin 11 gene. The child was treated with HLH-2004 protocol of chemotherapy followed by allogenic stem cell transplantation. His neurological condition improved significantly after treating the underlying disease.
  
  
  CONCLUSIONS
  Cerebellar swelling is a rare manifestation of familial HLH. High degree of clinical suspicion may allow a timely diagnosis and appropriate therapy.
authors.affiliation: Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. Electronic address: sshahrukh@kfshrc.edu.sa.
authors.forename: Shamshad G
authors.initials: SG
authors.lastname: Khan
authors.affiliation: Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. Electronic address: binmahfoodh@kfshrc.edu.sa.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Binmahfoodh
authors.affiliation: Department of Hematology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. Electronic address: malali@kfshrc.edu.sa.
authors.forename: Muayad
authors.initials: M
authors.lastname: Alali
authors.affiliation: Department of Hematology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. Electronic address: mbayomi@kfshrc.edu.sa.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Bayoumy
authors.affiliation: Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. Electronic address: yalsaid@kfshrc.edu.sa.
authors.forename: Youssef
authors.initials: Y
authors.lastname: Al-Said
authors.affiliation: Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. Electronic address: kahusam@kfshrc.edu.sa.
authors.forename: Husam R
authors.initials: HR
authors.lastname: Kayyali
mesh_terms: D001929:Brain Edema / Q000209:etiology*; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male
keywords: Cerebellar swelling; Familial hemophagocytic lymphohistiocytosis; Hydrocephalus; Syntaxin-11 gene