Griscelli Syndrome In A Newborn With Silver Hair And Seizures

Griscelli syndrome (GS) is a rare autosomal-recessive genetic disorder that is characterized by partial albinism and immunodeficiency. Defects in RAB27A or MYO5A lead to defects in melanosome transport. The immunodeficiency, which only affects patients with RAB27A defects, can include combined T- and B- cell defects, natural killer cell dysfunction, and neutropenia. Death usually occurs by age five unless bone marrow transplant (BMT) is undertaken. We present a patient with GS who presented at birth with silvery hair, a family history of GS, and seizures. Light microscopy hair analysis was performed at LAC+USC Medical Center. RAB27A gene sequencing was sent to PreventionGenetics in Marshfield, WI. The patient was born at 34 1/7 weeks and admitted to the NICU for prematurity and difficult transition. Patient had a distinctive silver hair color similar to that of an older sibling with Griscelli Syndrome who had died 16 years before. Patient then developed tonic extension of the left lower extremity, and video EEG demonstrated epileptiform movements. Light microscopy showed abnormal melanocyte clumping, and molecular testing demonstrated an abnormality in the RAB27A gene, thus confirming the diagnosis of GS type 2. Patient is awaiting BMT evaluation. The constellation of findings including albinism, neurologic findings, and immune deficits should raise a high suspicion for GS. Early recognition of the characteristic findings is essential as bone marrow transplant is the only option in prevention of early death.