480 Silvery-gray Hair Patient with neurologic deterioration

BACKGROUND: Griscelli syndrome is a rare autosomal recessive condition characterized by pigmentary abnormalities, particularly greying of the hair. Type 1 is associated with severe neurological impairment and type 2 with immunological problems, whereas type 3 is limited to the pigmentary phenotype. METHODS: We describe the presentation of a 3 year old female silvery-gray hair patient with neurological deterioration. RESULTS: A 3 year-old Mexican female was refered to our hospital. Relevant history: Consanguinity parents, 2 males from father side died in infancy, both presented grayish hair. Normal development milestones until 2 and a half years of age. (Including bladder and bowel control). Immunizations up to date. No prior history of infections. At 11 months of age cutaneous lesions leaving atrophic scars, with a chronic evolution. At 2 years 6 months old she started presenting demential picture, with impaired language, abnormal gait, with a significant decline of previous level of functioning. Hospitalized in another state hospital with diagnosis of Infection of central nervous system. Due to worsening evolution despite treatment she was refered to our institution. She was admitted to Intensive Care Unit, requiring mechanical support due to a pneumonia. On physical examination the most striking feature was an unusual silvery-gray pigmentation of her hair, eyebrows and eyelashes, crackles in both lungs, no adenomegalies, no hepatosplenomegaly. Analysis of hair shafts was carried out at the time of hospital admittance and showed abnormal clumping of the pigment granules, as seen in Griscelli syndrome. During her clinic evolution the neurological deterioration was progressive. Serial exams for haemophagocytic syndrome (accelerated phase) were negative (ferritin, transaminases, CBC, triglycerides etc). Her condition deteriorated during the following days. Treated at the Intensive Care Unit with multiple broad spectrum antibiotics, she developed respiratory insufficiency, refractory shock, multiorgan dysfunction, and died on her 23rd hospital day. A cerebral biopsy reported necrosis and chronic inflammatory infiltrate. CONCLUSIONS: The results of molecular analysis is in process: griscelli type 2 (rab27a mutation) or elejalde syndrome (myo5a mutations) are the 2 considerations.