Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation
Vijayakumar Balaraddi1, Ketaki Nawlakhe1, Shilpa K1
1Department of Pediatrics and Neonatology, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Heath, South Hospital Complex, Banglore, Karnataka, 560029, India.
Abstract:
Neonates with oculocutaneous albinism who exhibit additional systemic involvement need heightened clinical vigilance and prompt genetic testing. This is a case of a sick dysmorphic late preterm neonate with oculocutaneous albinism, hepatosplenomegaly, microcephaly, central hypotonia and severe encephalopathy, presenting since birth. Genetic analysis revealed AP3D1 gene mutation suggestive of Hermansky-Pudlak Syndrome (HPS) type 10. Severe neurological involvement in HPS is highly suggestive of type 10, indicating poor outcome. This case report aims to give a comprehensive account of the patient's clinical course and offer prognostic insights and guidance that may be applicable to such analogous neonatal cases.
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