A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental syndrome resulting from a deletion of the distal long arm of chromosome 22.

Case presentation

We report a case of a 21 months old Chinese girl presenting with global developmental delay, regression of language skills, unable to understand a few words or walk independently, insomnia, and autism-like behaviors. Copy number variation (CNV) analysis showed a heterozygous loss of SHANK3 gene in the 22q13 region, consistent with a diagnosis of PMS. After treatment with recombinant human growth hormone (rhGH), this patient had an improvement in motor skills and social behaviors. No side effects from rhGH therapy were reported.

Conclusions

This is the first report

SUBMITTER: Xie RJ 

PROVIDER: S-EPMC7934562 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature