Phelan McDermid syndrome: multiple sclerosis as a rare but treatable cause for regression—a case report
peer-reviewed
Erstveröffentlichung
2021-02-25Authors
Jesse, Sarah
Delling, Jan Philipp
Schön, Michael
Böckers, Tobias M.
Ludolph, Albert C.
Wissenschaftlicher Artikel
Published in
International Journal of Molecular Sciences ; 22 (2021). - Art.-Nr. 2311. - ISSN 1661-6596. - eISSN 1422-0067
Link to original publication
https://dx.doi.org/10.3390/ijms22052311Faculties
Medizinische FakultätInstitutions
UKU. Klinik für NeurologieInstitut für Anatomie und Zellbiologie
Document version
published version (publisher's PDF)Abstract
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.
EU Project uulm
AIMS-2-TRIALS / Autism Innovative Medicine Studies - 2 - Trials / EC / H2020 / 777394
Publication funding
Open-Access-Förderung durch die Medizinische Fakultät der Universität Ulm
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
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Please use this identifier to cite or link to this item: http://dx.doi.org/10.18725/OPARU-38065
Jesse, Sarah et al. (2021): Phelan McDermid syndrome: multiple sclerosis as a rare but treatable cause for regression—a case report. Open Access Repositorium der Universität Ulm und Technischen Hochschule Ulm. http://dx.doi.org/10.18725/OPARU-38065
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