An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature.
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| Title: | An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature. |
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| Authors: | Giardino, Maria, Peluso, Francesca, Daolio, Omar, Bellini, Melissa, Ambrosini, Enrico, Zito, Matteo, Squarcia, Antonella |
| Source: | European Child & Adolescent Psychiatry. Jan2025, Vol. 34 Issue 1, p363-368. 6p. |
| Subjects: | Schizophrenia in children, Age factors in disease, 22q11 deletion syndrome, White matter (Nerve tissue), Agenesis of corpus callosum, Hippocampus (Brain), Neuroradiology, Phenotypes |
| Abstract: | Childhood Onset Schizophrenia is a rare neuropsychiatric disorder significantly associated with 22q11.2 Deletion Syndrome. We describe a male patient, followed from childhood to adolescence, who exhibited premorbid impairments in language, learning and social abilities, along with comorbid anxiety disorders. Over time, he gradually developed Childhood Onset Schizophrenia, with neuroradiological findings of white matter hyperintensities, a dysmorphic corpus callosum and Hippocampal Malrotation. These findings were observed in the context of a genetic diagnosis of 22q11.2 Deletion Syndrome, despite the absence of the most common congenital malformations and clinical conditions typically associated with this syndrome. A remarkable aspect of this case report is the emphasis on the importance of suspecting 22q11.2 Deletion Syndrome even in cases where only the neuropsychiatric phenotype of Childhood-Onset Schizophrenia and structural brain alterations, is present. While abnormalities of white matter and corpus callosum are associated with schizophrenia in patients with 22q11.2 Deletion Syndrome, Hippocampal Malrotation is more frequently described in patients with epilepsy and prolonged febrile seizures. Recently, only 10 adult patients with 22q11.2 Deletion Syndrome have been reported to have Hippocampal Malrotation, six of whom were affected by schizophrenia, with or without epilepsy. Our case report aims to extend the neuroradiological findings associated with 22q11.2 Deletion Syndrome and Schizophrenia, including Hippocampal Malrotation. This is the first case report in which Hippocampal Malrotation has been described in Childhood Onset Schizophrenia and 22q11.2 Deletion Syndrome. We suggest that patients with Hippocampal Malrotation and Childhood Onset Schizophrenia, should have a chromosomal microarray performed to screen for 22q11.2 Deletion Syndrome. [ABSTRACT FROM AUTHOR] |
| 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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| Items | – Name: Title Label: Title Group: Ti Data: An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Giardino%2C+Maria%22">Giardino, Maria</searchLink><br /><searchLink fieldCode="AR" term="%22Peluso%2C+Francesca%22">Peluso, Francesca</searchLink><br /><searchLink fieldCode="AR" term="%22Daolio%2C+Omar%22">Daolio, Omar</searchLink><br /><searchLink fieldCode="AR" term="%22Bellini%2C+Melissa%22">Bellini, Melissa</searchLink><br /><searchLink fieldCode="AR" term="%22Ambrosini%2C+Enrico%22">Ambrosini, Enrico</searchLink><br /><searchLink fieldCode="AR" term="%22Zito%2C+Matteo%22">Zito, Matteo</searchLink><br /><searchLink fieldCode="AR" term="%22Squarcia%2C+Antonella%22">Squarcia, Antonella</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22European+Child+%26+Adolescent+Psychiatry%22">European Child & Adolescent Psychiatry</searchLink>. Jan2025, Vol. 34 Issue 1, p363-368. 6p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Schizophrenia+in+children%22">Schizophrenia in children</searchLink><br /><searchLink fieldCode="DE" term="%22Age+factors+in+disease%22">Age factors in disease</searchLink><br /><searchLink fieldCode="DE" term="%2222q11+deletion+syndrome%22">22q11 deletion syndrome</searchLink><br /><searchLink fieldCode="DE" term="%22White+matter+%28Nerve+tissue%29%22">White matter (Nerve tissue)</searchLink><br /><searchLink fieldCode="DE" term="%22Agenesis+of+corpus+callosum%22">Agenesis of corpus callosum</searchLink><br /><searchLink fieldCode="DE" term="%22Hippocampus+%28Brain%29%22">Hippocampus (Brain)</searchLink><br /><searchLink fieldCode="DE" term="%22Neuroradiology%22">Neuroradiology</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Childhood Onset Schizophrenia is a rare neuropsychiatric disorder significantly associated with 22q11.2 Deletion Syndrome. We describe a male patient, followed from childhood to adolescence, who exhibited premorbid impairments in language, learning and social abilities, along with comorbid anxiety disorders. Over time, he gradually developed Childhood Onset Schizophrenia, with neuroradiological findings of white matter hyperintensities, a dysmorphic corpus callosum and Hippocampal Malrotation. These findings were observed in the context of a genetic diagnosis of 22q11.2 Deletion Syndrome, despite the absence of the most common congenital malformations and clinical conditions typically associated with this syndrome. A remarkable aspect of this case report is the emphasis on the importance of suspecting 22q11.2 Deletion Syndrome even in cases where only the neuropsychiatric phenotype of Childhood-Onset Schizophrenia and structural brain alterations, is present. While abnormalities of white matter and corpus callosum are associated with schizophrenia in patients with 22q11.2 Deletion Syndrome, Hippocampal Malrotation is more frequently described in patients with epilepsy and prolonged febrile seizures. Recently, only 10 adult patients with 22q11.2 Deletion Syndrome have been reported to have Hippocampal Malrotation, six of whom were affected by schizophrenia, with or without epilepsy. Our case report aims to extend the neuroradiological findings associated with 22q11.2 Deletion Syndrome and Schizophrenia, including Hippocampal Malrotation. This is the first case report in which Hippocampal Malrotation has been described in Childhood Onset Schizophrenia and 22q11.2 Deletion Syndrome. We suggest that patients with Hippocampal Malrotation and Childhood Onset Schizophrenia, should have a chromosomal microarray performed to screen for 22q11.2 Deletion Syndrome. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab 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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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00787-024-02569-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 363 Subjects: – SubjectFull: Schizophrenia in children Type: general – SubjectFull: Age factors in disease Type: general – SubjectFull: 22q11 deletion syndrome Type: general – SubjectFull: White matter (Nerve tissue) Type: general – SubjectFull: Agenesis of corpus callosum Type: general – SubjectFull: Hippocampus (Brain) Type: general – SubjectFull: Neuroradiology Type: general – SubjectFull: Phenotypes Type: general Titles: – TitleFull: An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Giardino, Maria – PersonEntity: Name: NameFull: Peluso, Francesca – PersonEntity: Name: NameFull: Daolio, Omar – PersonEntity: Name: NameFull: Bellini, Melissa – PersonEntity: Name: NameFull: Ambrosini, Enrico – PersonEntity: Name: NameFull: Zito, Matteo – PersonEntity: Name: NameFull: Squarcia, Antonella IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: Jan2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 10188827 Numbering: – Type: volume Value: 34 – Type: issue Value: 1 Titles: – TitleFull: European Child & Adolescent Psychiatry Type: main |
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