Unusual Presentation of Griscelli Syndrome: Neurological Involvement without Hematologic Manifestations

Abstract

Background: Griscelli syndrome type-2 (GS2) is characterized by cutaneous hypopigmentation, immunodeficiency, and hemo-phagocytic lympho-histiocytosis. Primary neurological presentation is rare. Case Report: We hereby report 13 year old girl who presented with cutaneous hypopigmentation, clinical and radiological evidence of neurologic involvement unaccompanied by other features of hemo-phagocytosis. Electron microscopy of hair shaft and skin biopsy established the diagnosis of Griscelli syndrome. Conclusion: Neurologic manifestations in Griscelli syndrome may occur in isolation without the more common hemophagoctic-lymphohistiocytosis.

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

“…Also, in some case reports of ES, clinical images show similar mottled or speckled dyschromatosis, although in the text, it is mentioned as hyperpigmentation . Widespread speckled hypopigmented macules on sun‐exposed sites have also been described in GS2, but it is not specified in the texts, nor it is discernible from clinical images, whether the background skin is normal or hyperpigmented . These unconventional pigmentary manifestations of silvery hair syndromes are mostly reported from Japanese, Middle Eastern, and Indian populations.…”

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.…”

“…Consequently, the infant was given broad-spectrum antibiotics along with acyclovir before the septic workup turned negative. This diagnosis problem that emerges from these types of local, isolated activation of the macrophages inside the central nervous system (CNS) is widely discussed among authors [ 12 , 14 - 16 ]. Similar to our case report, other cases were described and highlighted the same unusual presentation.…”

“…Similar to our case report, other cases were described and highlighted the same unusual presentation. A case of a 13-year-old female was reported by Akunuri et al to have presented progressive ataxia due to her GS type 2, without the hematologic manifestations of macrophage hyperactivation [ 12 ]. Another unique case of an 11-year-old female was found to have presented facial palsy and hemiplegia along with immunological deficiency, but no evidence of hemophagocytosis [ 15 ].…”