Syndromic albinism and haemophagocytosis

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A 3-year-old boy (4th child of consanguineous parents) was admitted because of the suspicion of a haemophagocytic syndrome (2-week history of fever, hepatosplenomegaly and pancytopenia). Blood analysis showed haemoglobin 80 g/l, leucocyte count 4AE5 · 10/l, platelet count 115 · 10/l, fibrinogen 1AE4 g/l, triglycerides 2AE78 mmol/l and ferritin 1849 lg/l. Bone marrow aspiration showed haemophagocytosis (Fig A and B), and polymerase chain reaction was positive for Epstein–Barr virus (EBV) (119AE801 copies/ml). On examination, his silver-grey hair colour was remarkable. On direct light microscopic examination, the hair had melanin aggregates and clumps of pigment distributed along the medulla (Fig I), as opposed to the smooth distribution of this pigment in a normal hair (Fig II). A syndromic albinism [Griscelli syndrome (GS) type 2] was suspected and confirmed by molecular studies (homozygotic deletion in RAB27A). The child was treated with antibiotics, corticosteroids, ciclosporin and etoposide with a good outcome. He is now going to receive a haemopoietic stem cell transplant from an unrelated donor. A 34-week gestational age girl (6th child of consanguineous parents) was admitted to the neonatal care unit because of her prematurity. Giant cytoplasmic granules were seen in peripheral blood leucocytes (Fig C) as well as in bone marrow haematopoietic progenitors (Fig D). On examination, grey hair and skin hypopigmentation were found. Microscopic examination of her hair showed small granular aggregates of melanin in the hair shaft (Fig III). These findings led to the diagnosis of Chediak-Higashi syndrome (CHS). During the first 3 years of life she had otomastoiditis complicated by a cerebral venous sinus thrombosis, easy bruising, deafness and psychomotor delay. At the age of 3 years she developed a haemophagocytic syndrome triggered by EBV infection. Treatment with corticosteroids, ciclosporin and etoposide was unsuccessful and the patient died from progressive disease and systemic candidiasis. Albinism syndromes have been associated with systemic diseases. Of note, direct microscopic examination of hair and a blood film are simple and useful diagnostic tools in these cases. In GS the diagnosis can be suspected from the characteristic silver-grey hair colour, especially when associated with a haemophagocytic syndrome (accelerated phase). In CHS the diagnosis can be made when a patient has grey hair albinism and giant granules in leucocytes. (A)