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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.
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]
Copyright of European Child & Adolescent Psychiatry is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient.
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  Data: <searchLink fieldCode="AR" term="%22Cirnigliaro%2C+Lara%22">Cirnigliaro, Lara</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Randazzo%2C+Martina%22">Randazzo, Martina</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dardis%2C+Andrea%22">Dardis, Andrea</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Stroppiano%2C+Marina%22">Stroppiano, Marina</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Velardita%2C+Mario%22">Velardita, Mario</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Peruzzo%2C+Paolo%22">Peruzzo, Paolo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Scarpa%2C+Maurizio%22">Scarpa, Maurizio</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rizzo%2C+Renata%22">Rizzo, Renata</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Barone%2C+Rita%22">Barone, Rita</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Child+%26+Adolescent+Psychiatry%22">European Child & Adolescent Psychiatry</searchLink>. Nov2025, Vol. 34 Issue 11, p3691-3694. 4p.
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  Data: <searchLink fieldCode="DE" term="%22Ultrasonic+imaging+of+the+abdomen%22">Ultrasonic imaging of the abdomen</searchLink><br /><searchLink fieldCode="DE" term="%22Physical+diagnosis%22">Physical diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Neurologic+examination%22">Neurologic examination</searchLink><br /><searchLink fieldCode="DE" term="%22Brain%22">Brain</searchLink><br /><searchLink fieldCode="DE" term="%22Mucopolysaccharidosis%22">Mucopolysaccharidosis</searchLink><br /><searchLink fieldCode="DE" term="%22Anxiety%22">Anxiety</searchLink><br /><searchLink fieldCode="DE" term="%22Affective+disorders%22">Affective disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Psychoses%22">Psychoses</searchLink><br /><searchLink fieldCode="DE" term="%22Psychological+tests%22">Psychological tests</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Symptoms%22">Symptoms</searchLink>
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  Data: 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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  Data: <i>Copyright of European Child & Adolescent Psychiatry is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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      – SubjectFull: Physical diagnosis
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              Text: Nov2025
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