Acute Psychosis in an Adolescent with Undiagnosed Homocystinuria

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 2015 May 6

PMID 25939413

Citations 3

Authors

Giada Colafrancesco

Giulia Maria di Marzio

Giuseppe Abbracciavento

Vera Stoppioni

Vincenzo Leuzzi

Mauro Ferrara

Affiliations

Soon will be listed here.

Abstract

Conclusion: A diagnosis of homocystinuria due to CBS deficiency should be considered in patients presenting, as target signs, ectopia lentis with or without learning difficulties, and should also be taken into account as a potentially treatable cause of acute psychosis in childhood and adolescence.

What Is Known: • Homocystinuria frequently present with ectopia lentis, myopia, cognitive impairment, Marfan-like phenotype, osteoporosis, cerebrovascular, or cardiac thrombosis. • Acute psychosis has rarely been reported as a presenting symptom of the disease.

What Is New: • The complete psychotic symptoms' remission with pharmacological doses of pyridoxine and folic acid, without antipsychotic drugs.

Citing Articles

Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition.

Gonzalez-Lamuno D, Arrieta-Blanco F, Fuentes E, Forga-Visa M, Morales-Conejo M, Pena-Quintana L Nutrients. 2024; 16(1).

PMID: 38201964 PMC: 10780827. DOI: 10.3390/nu16010135.

Schizophrenia as metabolic disease. What are the causes?.

Helaly A, Ghorab D Metab Brain Dis. 2023; 38(3):795-804.

PMID: 36656396 PMC: 9849842. DOI: 10.1007/s11011-022-01147-6.

A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report.

Erol M, Gayret O, Yigit O, Cabuk K, Toksoz M, Tiras M Iran Red Crescent Med J. 2016; 18(4):e30332.

PMID: 27330833 PMC: 4912698. DOI: 10.5812/ircmj.30332.

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