title: Seizure as the presenting manifestation in Griscelli syndrome type 2.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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: Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Inusha
authors: I
authors: Panigrahi
authors: Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Renu
authors: R
authors: Suthar
authors: 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.
authors: Amit
authors: A
authors: Rawat
authors: Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Bijaylakshmi
authors: B
authors: Behera
mesh_terms: D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008543:Melanins / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D016116:Piebaldism / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D000081207:Primary Immunodeficiency Diseases; D012640:Seizures / Q000209:etiology*; D020691:rab GTP-Binding Proteins / Q000235:genetics; D000075745:rab27 GTP-Binding Proteins
chemical_list: D008543:Melanins; D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins
keywords: Griscelli syndrome type II; hypopigmentation; melanosomes; seizures