Neurological presentation of Griscelli syndrome: Obstructive hydrocephalus without haematological abnormalities or organomegaly

Unusual Presentation of Griscelli Syndrome: Neurological Involvement without Hematologic Manifestations

“…Such cases of GS2 with isolated neurological involvement in the absence of hematological manifestations of HLH have rarely been reported [4][5][6]. The other unusual finding in this child was the presence of pulmonary nodules, which has not been described with Griscelli syndrome before; rather, this finding shifted the focus to other conditions like neurosarcoidosis making the diagnosis a clinical challenge.…”

“…During the accelerated phases, hemophagocytosis and pancytopenia occur which may be accompanied by neurological deterioration [2,3]. Isolated neurological deterioration without hematological involvement has been rarely described [4][5][6]. We describe a girl who presented with isolated neurological manifestations.…”

Cerebellar involvement of Griscelli syndrome type 2

“…Similarly Arushi et al have also reported a cerebellar involvement of GS2 in a 3-year-old boy based on MRI findings 8. Rajadhyax et al 9 reported a GS2 case presented with obstructive hydrocephalus and infiltrative lesions in the brain unaccompanied by other features of accelerated phase; biopsy of these lesions demonstrated sinus histiocytosis. Ashrafi et al 10 reported bilateral basal ganglia involvement in a GS2 case who was admitted to the hospital with seizures and stupor.…”

Griscelli Syndrome with neurological deterioration: A case report.

“…The patient had hyper-intensities of the cerebral hemispheres, cerebellum, and brainstem on T2 weighted and FLAIR images, which were consistent with de-dysmyelinating lesions. Also noted were delay in myelination, focal gray and white matter changes, diffuse non-specific atrophy, and calcifications (6) . The neurological manifestations of this patient were compatible with the diagnosis of GS2.…”

“…Rajadhyax et al (6) reported a case that presented with neurological involvement, obstructive hydrocephalus, without hematological disturbances or organomegaly. The patient reported here had central nervous system involvement without an accelerated phase.…”