Hermansky Pudlak syndrome type 2 is a rare autosomal recessive disorder resulting from functional mutations in the adaptor related protein complex 3,B1 subunit (AP3B1) gene. It is characterized by severe neutropenia, ocular albinism, interstitial pulmonary fibrosis, hemorrhagic diathesis and an absence of platelet dense granules.We describe a new case
Authors describe the phenotypic diagnosis and management of Hermansky Pudlak type 2 Syndrome in a patients followed in the pediatric immune-hematology unit, Tunis.
CM was a 8--year-old girl born from 2nd consanguineous parents with family history of death of her sister at 7 –year-old in the context of respiratory distress and malignant varicella. The diagnosis was suspected after a history of recurrent cutaneous , ORL and respiratory infections, an episode of pneumocystis Jirovecii pneumonia and bleeding tendency with gingival bleeding and bruising. Clinical examination showed oculocutaneous albinism and finger clubbing. CBC reveal neutropenia (570/mm3) and normal platelet count. Bone marrow aspiration showed normal myeloid maturation. CT scan of the chest demonstrate pulmonary fibrosis with bilateral infiltrative lung disease. Diagnosis of HPD2 was retained in front of: Partial albinism, recurrent infections, pulmonary fibrosis Increased bleeding and neutropenia. The patient received Bactrim as secondary prophylaxis, granulocyte-stimulating factor since 2018 and she has a regular medical monitoring. Restrictive ventilation disorder was stable on spirometry and there wasn’t Pulmonary Hypertension at transthoracic echocardiography (19 year follow-up).
Hermansky Pudlak syndrome type 2 was rare and associated with poorly prognosis related to infections and pulmonary fibrosis.