Griscelli syndrome with malnutrition: a diagnostic challenge

Abstract

Griscelli syndrome is a rare autosomal recessive disorder characterized by hypopigmentation of skin and hair. Griscelli syndrome type 2, one of the three subtypes of Griscelli syndrome, is characterized by recurrent infections, in addition to pigmentary abnormalities. We present the case of a 15-year-old girl with late onset of Griscelli syndrome type 2 features: pigmentary changes of hair and skin, hepatosplenomegaly, pancreatitis and pancytopenia. We also highlight the diagnostic dilemma in patients with coexisting features of malnutrition. Both conditions show some overlapping clinical features and hence, establishing a diagnosis may be challenging.

Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report

“…Griscelli syndrome is a rare autosomal recessive disorder that was first reported by Griscelli et al in 1978 [ 2 ]. To date, 160 cases of this disease have been described in the literature, mostly from the Mediterranean and Turkish regions [ 1 ]. The mean age for presentation is 17.5 months, with no sex preponderance [ 3 ].…”

“…GS type 1 results from the mutation of the MYO5A gene, which is also involved in axonal transport, thereby giving rise to concurrent neurological abnormalities. GS type 2 (GS2) occurs due to mutations of the RAB27A gene [ 1 ], resulting in impaired lymphocyte and natural killer cell function. The inability to clear off pathogens causes chronic overstimulation of T-lymphocytes and macrophages, leading to their uncontrolled activation and proliferation, which is often precipitated by a viral infection.…”

“…The inability to clear off pathogens causes chronic overstimulation of T-lymphocytes and macrophages, leading to their uncontrolled activation and proliferation, which is often precipitated by a viral infection. The disease then takes on an accelerated course called hemophagocytic lymphohistiocytosis (HLH), which is marked by splenomegaly, fever, cytopenias of different cell lineages, increased serum triglycerides, increased serum ferritin, and decreased serum fibrinogen [ 1 ]. The only potential cure available for GS2 is hematopoietic stem cell transplantation (HSCT) [ 1 ], which may yield a good outcome when undertaken promptly.…”

“…The disease then takes on an accelerated course called hemophagocytic lymphohistiocytosis (HLH), which is marked by splenomegaly, fever, cytopenias of different cell lineages, increased serum triglycerides, increased serum ferritin, and decreased serum fibrinogen [ 1 ]. The only potential cure available for GS2 is hematopoietic stem cell transplantation (HSCT) [ 1 ], which may yield a good outcome when undertaken promptly. Without treatment, the condition is fatal.…”

“…Described below is a case of type 2 Griscelli syndrome, a syndrome of rare occurrence with only a total of about 160 cases reported the world over [ 1 ].…”