Phelan McDermid syndrome: multiple sclerosis as a rare but treatable cause for regression—a case report
Delling, Jan Philipp
Böckers, Tobias M.
Ludolph, Albert C.
International Journal of Molecular Sciences ; 22 (2021). - Art.-Nr. 2311. - ISSN 1661-6596. - eISSN 1422-0067
Link to original publicationhttps://dx.doi.org/10.3390/ijms22052311
InstitutionsUKU. Klinik für Neurologie
Institut für Anatomie und Zellbiologie
Phelan McDermid syndrome (PMcD) is a neurogenetic disease associated with haploinsufficiency of the SHANK3 gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. SHANK3 is the abbreviation for SH3 domain and ankyrin repeat-containing protein, a gene that encodes for proteins of the postsynaptic density (PSD) of excitatory synapses. This PSD is relevant for the induction and plasticity of spine and synapse formation as a basis for learning processes and long-term potentiation. Individuals with PMcD present with intellectual disability, muscular hypotonia, and severely delayed or absent speech. Further neuropsychiatric manifestations cover symptoms of the autism spectrum, epilepsy, bipolar disorders, schizophrenia, and regression. Regression is one of the most feared syndromes by relatives of PMcD patients. Current scientific evidence indicates that the onset of regression is variable and affects language, motor skills, activities of daily living and cognition. In the case of regression, patients normally undergo further diagnostics to exclude treatable reasons such as complex-focal seizures or psychiatric comorbidities. Here, we report, for the first time, the case of a young female who developed progressive symptoms of regression and a dystonic-spastic hemiparesis that could be traced back to a comorbid multiple sclerosis and that improved after treatment with methylprednisolone.
AIMS-2-TRIALS / Autism Innovative Medicine Studies - 2 - Trials / EC / H2020 / 777394
Subject headings[GND]: Multiple Sklerose | Autoaggressionskrankheit | Autismus
[MeSH]: Multiple sclerosis | Autoimmune diseases | Autism spectrum disorder
[Free subject headings]: Phelan McDermid syndrome | Genetic autism spectrum | Regression | SHANK3
[DDC subject group]: DDC 610 / Medicine & health
LicenseCC BY 4.0 International
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DOI & citation
Please use this identifier to cite or link to this item: http://dx.doi.org/10.18725/OPARU-38065