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Kirtisudha Mishra,Shilpy Singla,Suvasini Sharma,Renu Saxena,Vineeta Vijay Batra 대한소아청소년과학회 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.2
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27Agene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocyticlymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elderbrother presented with a purely neurological picture, whereas the younger one presented with fever,pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentationwas a common feature between the brothers, genetic analysis for Griscelli syndrome wasperformed. As the elder sibling had died, mutation analysis was only performed on the younger sibling,which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing asingle-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features ofGS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, associationwith erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.
Mishra, Kirtisudha,Singla, Shilpy,Sharma, Suvasini,Saxena, Renu,Batra, Vineeta Vijay The Korean Pediatric Society 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.2
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.