Korean J Pediatr.  2016 Nov;59(Suppl 1):S25-S28. 10.3345/kjp.2016.59.11.S25.

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

• Kim YM
• Choi IH
• Kim JS
• Kim JH
• Cho JH
• Lee BH
• Kim GH
• Choi JH
• Seo EJ
• Yoo HW

• KMID: 2362248
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S25

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.

Keyword

Phelan-McDermid syndrome; Chromosome 22q13.3 deletion syndrome; SHANK3

MeSH Terms

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