Diagnosis of Hermansky-Pulak syndrome

History and admission findings: A 27-year-old woman presented with increase d bleeding tendency and known oculocutaneous albinism. In addition to frequ ent nasal and gingival bleedings she had since childhood spontaneous extens ive cutaneous bleedings. In addition she was extreme sensitive to UV light with visual disturbances. Bone-marrow biopsy when aged 9 years had revealed abnormal pigment-storing cells. Physical examination showed a very fair sk in and hair, spontaneous nystagmus and extensive rash in the face. Investigations: Prothrombin, partial thromboplastin and thrombin times as w ell as fibrinogen level were normal. On readmission bleeding time varied gr eatly, while platelet count was normal. Mean platelet volume was slightly r educed. Von Willebrand antigen, factor VIII:C, factor IX:C, factor XIII and alpha (2)-antiplasmin were all normal. Aggregometry indicated abnormal pla telet function; there was reduced platelet aggregation after stimulation wi th adenosine diphosphate. Flow cytometry of whole blood demonstrated abnorm al storage function of thrombocytic delta -granules. The underlying cause o f the described symptoms was shown to be a gene defect in typical location on the long arm of chromosome 10. Diagnosis and treatment: The triad of tyrosinase-positive oculocutaneous al binism, abnormal thrombocytic delta -granules and ceroid deposition in the cells of the reticuloendothelial system or the bone-marrow is called Herman sky-Pudlak syndrome (after those who first reported it). There is as yet no causal treatment. But the patient was advised to use a nasal spray of desm opressin for spontaneous or difficult to stop bleedings after minor injurie s. Desmopressin i.v. should be given prophylactically before any operation.