Hermansky-Pudlak syndrome presenting with paranoid delusion

To the Editor, Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with classical presentations of oculocutaneous albinism, a bleeding diathesis due to the absence of dense bodies in platelets, pulmonary fibrosis, and granulomatous colitis.1–3 These systemic manifestations are due...

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Bibliographic Details
Published in:	CNS spectrums Vol. 28; no. 5; pp. 528 - 529
Main Authors:	Parikh, Nishi, Menon, Aravind, Mitwally, Aimin, Nayagan, Janeni, Magnani, Gretchen E., Aguilar, Francis, Koola, Maju M.
Format:	Journal Article
Language:	English
Published:	New York, USA Cambridge University Press 01-10-2023
Subjects:	Delusions Families & family life Letter to the Editor Patients Psychosis Schizophrenia HPS Type 3 Oculocutaneous Albinism Hermanski-Pudlak Syndrome Paranoid Delusion HPS Paranoid Delusion
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Summary:	To the Editor, Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with classical presentations of oculocutaneous albinism, a bleeding diathesis due to the absence of dense bodies in platelets, pulmonary fibrosis, and granulomatous colitis.1–3 These systemic manifestations are due to lysosome-related organelle dysfunction.1 HPS can present as 1 of 9 subtypes, each due to specific mutation variations, with types 1 and 4 being the most severe.1 Mutations in the HPS1 gene are responsible for the majority of HPS cases.1 HPS type 3 classically presents milder than the other 8 subtypes.1 HPS type 4 has shown an increased susceptibility to schizophrenia.4,5 Case A 19-year-old male with a past medical history of HPS type 3 (how he was diagnosed and age at diagnosis could not be determined from his chart), currently asymptomatic, and no past psychiatric history exhibited new-onset paranoid delusion over a 24-h period in April 2022. The patient expressed a belief that his family members were conspiring to kill him using a knife. The next day, he fled to his uncle’s house for safety, where the police were called, and the patient was brought to the emergency department (ED).
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1092-8529 2165-6509
DOI:	10.1017/S1092852922001092