Hermansky-Pudlak Syndrome Type 2 Presenting With Severe Pulmonary Arterial Hypertension in an Infant: A Case Report

Abstract Background: Hermansky-Pudlak Syndrome (HPS) Type 2 is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis due to platelet storage pool deficiency, and immuno deficiencyis an uncommon autosomal recessive condition marked by bleeding diathesis brought on by the platelet storage pool and oculocutaneous albinism. Pulmonary arterial hypertension (PAH) and multisystem involvement in infancy are uncommon but critical manifestations that contribute to high morbidity and mortality. Case Presentation: We report a 10-month-old male baby that is exhibiting severe respiratory distress, failure to thrive, and oculocutaneous albinism. Echocardiography revealed acyanotic congenital heart disease with restrictive perimembranous ventricular septal defect (7 mm), mild pulmonary arterial hypertension (PASP 40 mmHg), moderate tricuspid regurgitation, and 10 mm ostium secundum atrial septal defect. Peripheral blood smear showed large platelets amidst thrombocytosis (712,000/mm³). Positive family history included similarly affected male siblings with hypopigmentation and photophobia. Genetic testing confirmed Hermansky-Pudlak Syndrome Type 2. Management included intravenous furosemide, azithromycin, oseltamivir, oxygen therapy, and multidisciplinary supportive care. Conclusions: HPS Type 2 can present in infancy with life-threatening PAH and cardiac manifestations in addition to classical features. Early diagnosis and multidisciplinary management are essential. Awareness of the syndrome's multisystem involvement and family screening for genetic counseling are recommended.