Phelan-McDermid syndrome due toSHANK3mutation in an intellectually disabled adult male: successful treatment with lithium
نویسندگان
چکیده
منابع مشابه
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or ...
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Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of K...
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Children with an intellectual disability often demonstrate lack of cooperation during dental treatment and require behavioral management. A child with mild intellectual disability can be managed adequately using restraints and medication. However, in cases of profound intellectual disability, dental treatment under general anesthesia is usually required. In cases where the patient is an intelle...
متن کاملMitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (PMS), which is defined by a deletion within 22q13, demonstrates significant phenotypic variation. Given that six mitochondrial genes are located within 22q13, including complex I and IV genes, we hypothesize that mitochondrial complex activity abnormalities may explain phenotypic variation in PMS symptoms. Complex I, II, II + III and IV activity was measured in 51 PMS ...
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The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances, communication deficits, and motor perseverations. Data on psychological dysfunctions are so far not avai...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2017
ISSN: 1757-790X
DOI: 10.1136/bcr-2017-220778