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Acute psychosis in an adolescent with undiagnosed homocystinuria


Homocystinuria due to cystathionine-β-synthase deficiency (CBS deficiency) usually presents with ectopia lentis, myopia, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Whereas neurodevelopment impairments have been often described in untreated homocystinuria adult patients, acute psychosis has rarely been reported as a presenting symptom of the disease. Here, we describe a 17-year-old girl affected by CBS deficiency presenting acute onset of visual hallucinations, behavioral perseverance, psychomotor hyperactivity, and affective inappropriateness. Ectopia lentis, diagnosed several years before, didn’t have been considered as possible sign of a metabolic disorder. Psychotic symptoms were unresponsive to the conventional antipsychotic drugs and relieved after pyridoxine and folic acid treatment.

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.

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CBS deficiency:

Cystathionine-β-synthase deficiency


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Compliance with ethics guidelines

Conflict of interest

Giada Colafrancesco, Giulia Maria Di Marzio, Giuseppe Abbracciavento, Vera Stopponi, Vincenzo Leuzzi, and Mauro Ferrara declare that they have no conflict of interest.

Informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from both patient and her parents for being included in the study.

Authors’ contribution

Giada Colafrancesco, a guarantor, Vincenzo Leuzzi, and Mauro Ferrara are responsible for the conception and design, drafting the article, and revising it critically. Giulia Maria Di Marzio and Giuseppe Abbracciavento are also responsible for the conception and design and drafting the article. Vera Stoppioni is involved in the conception and design.

Author information

Correspondence to Giada Colafrancesco or Giulia Maria Di Marzio.

Additional information

Revisions received: 09 April 2015/17 April 2015

Communicated by Beat Steinmann

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Colafrancesco, G., Di Marzio, G.M., Abbracciavento, G. et al. Acute psychosis in an adolescent with undiagnosed homocystinuria. Eur J Pediatr 174, 1263–1266 (2015). https://doi.org/10.1007/s00431-015-2552-2

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  • Psychosis
  • Homocystinuria
  • Adolescent
  • Antipsychotic drugs
  • CBS deficiency