Cerebellar involvement of Griscelli syndrome type 2

Abstract

Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the literature.

Diagnostic and therapeutic caveats in Griscelli syndrome

“…Hearing loss, language or visual alterations, also present in our patient, are also frequent. Cerebellar signs such as ataxia, dysmetria, tremors and walking difficulties are also often found 28,29 . Patients may also present signs of intracranial hypertension, haemorrhage, altered consciousness and loss of motor skills or hemiparesis (Table S1).…”

“…Cerebellar signs such as ataxia, dysmetria, tremors and walking difficulties are also often found. 28,29 Patients may also present signs of intracranial hypertension, haemorrhage, altered consciousness and loss of motor skills or hemiparesis (Table S1). It is important to note that neurologic involvement might be present even in the absence of systemic HLH, as in our case, 14,30,31 or hypopigmentation 14,26 and might even debut in adulthood.…”

Hemiparesis Revealing a Unique Neurological Hemophagocytic Lymphohistiocytosis in a Patient With Griscelli Syndrome Type 2

“…The neurological manifestations of Griscelli syndrome are most common in GS1. However, in many reported cases, GS2 patients presented various neurological involvements such as raised intracranial pressure, seizures, ataxia, hemiparesis, and psychomotor retardation [2,[12][13][14], and since the RAB27A gene, the one responsible for GS2, is not expressed in neuronal cells, the neurological involvements reported among GS2 patients are attributed to histiocytic infiltration of the central nervous system, with the presence of most of the clinical and biological features of HLH [9]. Accordingly, cases of neurological involvements without hematologic manifestations of HLH are rarely described among GS2 patients.…”

“…Among the three described subtypes of Griscelli syndrome, GS2 is the most common and severe one, while GS3 is the least frequent and the most benign [ 7 , 8 ]. The diagnosis of GS may be assessed based only on the combination of clinical suspicion and the light microscopic analysis of the hair shafts [ 9 ]. However, molecular diagnosis with the detection of RAB27A mutation is the standard if available [ 9 ].…”

“…The diagnosis of GS may be assessed based only on the combination of clinical suspicion and the light microscopic analysis of the hair shafts [ 9 ]. However, molecular diagnosis with the detection of RAB27A mutation is the standard if available [ 9 ].…”