Two Reportable Rare Syndromes in Pediatric field: Griscelli Syndrome Type II along with Hemophagocytic lymphohistiocytosis

Imtroduction:Griscelli Syndrome (GS) is an uncommon autosomal recessive syndrome that contenance hypopigmentation and may comprise immunodeficiency and/or neurologic deficits, depending upon the specific genetic flaw. Three different types caused by mutation in three different genes have been defined. In most of cases, GS navigates to death in the first decade of life.Case Report:A two-month boy infant admitted in Bahar’s Educational and Research Hospital in shahroud, Iran with grievance of fever since past 2days. He was the second child and was born by cesarean section with gestational age 40 weeks, birth weight 2200 grams and a normal APGAR. His vaccination history was complete. He had no history of infection and surgery. His parents were consanguineous. The first child was 9 years old and healthy. There was no evidence of genetic disorders and same conditions in his family. The mother received routine health care during pregnancy.According to partial albinism and laboratory data such as anemia, thrombocytopenia, and hypertriglyceridemia, loss of neutrophil count, abnormal blood coagulation and prolonged fever we suspicion to HLH. Due to CNS lymphocytic infiltration, he had generalized seizure .We treat the patient with broad spectrum antibiotics, fresh frozen plasma and packed cell transfusion.During physical examination, he appeared pale and his hair, eyebrows and eyelashes was silvery (Figure 1).His growth indices were normal and his weight was4400 grams. His reflexes were normal. An abdominal examination was considerable with splenomegaly (4 cm below costal margine); we confirmed with ultrasound investigation. Other examination was normal. The laboratory investigation showed in Table 1.Discussion:GS is a rare autosomal recessive disorder causing to pigmentary dilution of the skin and hair with the presentation of immense clumps of pigment granules in hair shafts that result in silver-grey hair along with variable cellular immunodeficiency with or without severe neurological defects(2). Three subtypes (GS1, GS2, and GS3) have been identified based on mutations in genetic locus(myosin VA, Ras‑related protein Rab‑27A, melanophilin, respectively).

Keywords:

Griscelli syndrome , Hemophagocytic lyphohistiocytosis , Seizure , Silver hair