Adult-onset hemophagocytic lymphohistiocytosis type 2 presenting as a demyelinating disease

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis

“…Notably, there are also case reports of isolated CNS disease in FHL patients, occurring in the absence of any systemic disease features, mostly in older patients with hypomorphic mutations [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23]. Reported cases are rare and therefore the spectrum of clinical manifestations, response to therapy and prognosis remain poorly defined.…”

Pediatric CNS-isolated hemophagocytic lymphohistiocytosis

“…1,2 Hemophagocytosis has been found in a brain biopsy of a patient not fulfilling the systemic HLH criteria. 8 Patients with PRF1 mutations have been reported with isolated CNS inflammation for weeks to months before therapy initiation 1,9–12 ; 2 such patients underwent HCT. 9,11 These reports raise, but do not answer, the question as to whether isolated chronic CNS inflammation can occur in the absence of systemic HLH findings.…”

A novel mutation in <i>CACNA1A</i> gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine

“…It is important to educate the Saudi population about this fact to hopefully reduce the occurrence of rare and devastating diseases. We have previously reported several novel and rare mutations causing a wide variety of genetic neurological diseases in the Saudi community (16)(17)(18)(19)(20)(21)(22)(23)(24). This paper may be considered as an urgent call for action to address the consanguinity issue in Saudi Arabia.…”