Cerebellar swelling due to familial hemophagocytic lymphohistiocytosis: An unusual presentation. (September 2015)

• Record Type: Journal Article
• Authors: Khan, Shamshad G.; Binmahfoodh, Mohammed; Alali, Muayad; Bayoumy, Mohammed; Al-Said, Youssef; Kayyali, Husam R.
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 5(2015:Sep.)
• Page Start: 603
• Page End: 606
• Publication Date: 2015-09
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2015.04.009
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Abstract</title> <sec> <title id="sectitle0015">Background</title> <p id="abspara0010">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.</p> </sec> <sec> <title id="sectitle0020">Patient</title> <p id="abspara0015">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.</p> </sec> <sec> <title id="sectitle0025">Conclusion</title> <p id="abspara0020">Cerebellar swelling is a rare manifestation of familial HLH. High degree of clinical suspicion may allow a timely diagnosis and appropriate therapy.</p> </sec> </abstract>