Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.
10.3345/kjp.2016.59.11.S25
- Author:
Yoon Myung KIM
1
;
In Hee CHOI
;
Jun Suk KIM
;
Ja Hye KIM
;
Ja Hyang CHO
;
Beom Hee LEE
;
Gu Hwan KIM
;
Jin Ho CHOI
;
Eul Ju SEO
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Phelan-McDermid syndrome;
Chromosome 22q13.3 deletion syndrome;
SHANK3
- MeSH:
Brain;
Child;
Child Development;
Electroencephalography;
Heart Failure;
Humans;
Hydrocephalus;
In Situ Hybridization, Fluorescence;
Infant;
Kidney;
Language Development Disorders;
Magnetic Resonance Imaging;
Molecular Biology;
Multicystic Dysplastic Kidney;
Multiplex Polymerase Chain Reaction;
Muscle Hypotonia;
Myelin Sheath;
Rehabilitation;
Respiratory Tract Infections;
Seizures;
Thorax;
Ultrasonography;
Ventriculoperitoneal Shunt
- From:Korean Journal of Pediatrics
2016;59(Suppl 1):S25-S28
- CountryRepublic of Korea
- Language:English
-
Abstract:
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 Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.
