Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient.
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| Title: | Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient. |
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| Authors: | Cirnigliaro, Lara (AUTHOR), Randazzo, Martina (AUTHOR), Dardis, Andrea (AUTHOR), Stroppiano, Marina (AUTHOR), Velardita, Mario (AUTHOR), Peruzzo, Paolo (AUTHOR), Scarpa, Maurizio (AUTHOR), Rizzo, Renata (AUTHOR), Barone, Rita (AUTHOR) |
| Source: | European Child & Adolescent Psychiatry. Nov2025, Vol. 34 Issue 11, p3691-3694. 4p. |
| Subjects: | Ultrasonic imaging of the abdomen, Physical diagnosis, Neurologic examination, Brain, Mucopolysaccharidosis, Anxiety, Affective disorders, Magnetic resonance imaging, Psychoses, Psychological tests, Genetics, Symptoms |
| Abstract: | The article focuses on a case study of a 16-year-old patient diagnosed with Mucopolysaccharidosis III A (MPS III A), also known as Sanfilippo Syndrome type A, following the onset of acute psychiatric symptoms. The disorder, caused by mutations in the SGSH gene leading to heparan sulfamidase deficiency, results in neurological regression and various behavioral challenges. The patient exhibited significant psychological distress, including mood swings and academic difficulties, which progressed to psychotic episodes and cognitive decline. Genetic testing confirmed the diagnosis, revealing two pathogenic variants in the SGSH gene, and highlighting the importance of neurometabolic evaluation in adolescents presenting with acute psychiatric symptoms. The study underscores the need for early diagnosis and tailored therapeutic approaches for managing MPS III A. [Extracted from the article] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | The article focuses on a case study of a 16-year-old patient diagnosed with Mucopolysaccharidosis III A (MPS III A), also known as Sanfilippo Syndrome type A, following the onset of acute psychiatric symptoms. The disorder, caused by mutations in the SGSH gene leading to heparan sulfamidase deficiency, results in neurological regression and various behavioral challenges. The patient exhibited significant psychological distress, including mood swings and academic difficulties, which progressed to psychotic episodes and cognitive decline. Genetic testing confirmed the diagnosis, revealing two pathogenic variants in the SGSH gene, and highlighting the importance of neurometabolic evaluation in adolescents presenting with acute psychiatric symptoms. The study underscores the need for early diagnosis and tailored therapeutic approaches for managing MPS III A. [Extracted from the article] |
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| ISSN: | 10188827 |
| DOI: | 10.1007/s00787-025-02764-z |
