Introduction Hermansky-Pudlak syndrome type 2 (HPS-2) is a very rare multi-system disorder characterized by oculocutaneous albinism, reduced visual acuity, horizontal nystagmus, bleeding diathesis and recurrent infections due to neutropenia and impaired cytotoxic activity. HPS-2 is caused by mutations in the AP3B1 gene (5q14.1) and is transmitted in an autosomal recessive manner. The gene product is the Beta 3A subunit of adaptor protein 3 (AP3), involved in vesicle formation and protein sorting. Here we report a very rare case of HPS-2 who admitted because of fever.

Case report A 5 months-old female patient admitted to our hospital because of fever. She is the first child of a consanguinous parents. She had mild facial dysplasia, whitish-yelllow hair and horizontal nystagmus. Opthalmological evaluation showed oculocutaneous albinism. Moderate hepatosplenomegaly was revealed. Anemia (Hb; 8.3 gr/dl) and neutropenia (0.4×109/µL) with normal platelet count were documented. Bone marrow aspiration yielded hemophagocytosis. Triglyceride, ferritin and fibrinogen levels were in normal limits. She was treated with proper antibiotic treatment and discharged to follow-up in outpatient clinic. Neutropenia was subsequently fluctuated. She had been hospitalized six more times due to febrile neutropenia and at each admission cytopenia including thrombocytopenia (15×109/µL) in addition to hepatosplenomegaly were revealed. Time to time increased triglyceride levels were documented. All episodes were resolved with proper antibiotic and r-HuG-CSF treatment,. without requiring HLH treatment. Genetic analysis revealed homozygous nonsense mutation in exon 18 of the AP3B1 gene.

Conclusion Patients with albinism and opthalmological complaints should be evaluated for Hermansky-Pudlak syndrome.