Inusha Panigrahi1, Renu Suthar2, Amit Rawat3, Bijaylakshmi Behera2. 1. Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. 2. Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. 3. Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address: rawatamit@yahoo.com.
Abstract
BACKGROUND: Griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and has predominant immunologic abnormalities. METHOD: A retrospective case analysis highlighting neurological complications in an individual with Griscelli syndrome type 2. RESULTS: We present a 1-year-old girl with Griscelli syndrome type 2 in an Asian Indian family, confirmed by mutation analysis of the RAB27A gene. She presented with seizures and regression of developmental milestones following a brief febrile illness. Progressive neurological deterioration was associated with refractory status epilepticus. Neurological worsening may have resulted from the accelerated phase of the disease. CONCLUSION: Griscelli syndrome type 2 is a rare primary immunodeficiency state with characteristic silvery hair, partial albinism, and immunological abnormalities. Predominant neurological presentation is rare, but it represents isolated central nervous system hemophagocytosis.
BACKGROUND: Griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and has predominant immunologic abnormalities. METHOD: A retrospective case analysis highlighting neurological complications in an individual with Griscelli syndrome type 2. RESULTS: We present a 1-year-old girl with Griscelli syndrome type 2 in an Asian Indian family, confirmed by mutation analysis of the RAB27A gene. She presented with seizures and regression of developmental milestones following a brief febrile illness. Progressive neurological deterioration was associated with refractory status epilepticus. Neurological worsening may have resulted from the accelerated phase of the disease. CONCLUSION:Griscelli syndrome type 2 is a rare primary immunodeficiency state with characteristic silvery hair, partial albinism, and immunological abnormalities. Predominant neurological presentation is rare, but it represents isolated central nervous system hemophagocytosis.
Authors: Saba Jafarpour; Abhik Banerjee; Natalie K Boyd; Benjamin N Vogel; Kelli C Paulsen; Nusrat Ahsan; Wendy G Mitchell; Shafali S Jeste; Jonathan D Santoro Journal: J Neurol Date: 2022-08-12 Impact factor: 6.682