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Hermansky-Pudlak syndrome—rare type 10 with AP3D1 mutation
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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.
Oxford University Press (OUP)
Title: Hermansky-Pudlak syndrome—rare type 10 with AP3D1 mutation
Description:
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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