A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review

TL;DR

A nine-year-old girl with a rare 20p12.3 microdeletion syndrome is reported, showing various physical and metabolic symptoms.

Contribution

This case report expands the understanding of 20p12.3 microdeletion syndrome through a detailed clinical description.

Findings

The patient exhibited growth faltering, seizures, and dysmorphic features linked to the 20p12.3 deletion.

Metabolic disturbances included hypoglycemia and high anion gap metabolic acidosis.

Low IGF1 levels persisted despite growth hormone therapy for short stature.

Abstract

Chromosomal deletion syndromes are common worldwide. However, one rare condition that distinguishes a limited number of reported cases and variable phenotypes is 20p12.3 microdeletion syndrome. This case report describes a nine-year-old girl diagnosed with 20p12.3 microdeletion syndrome. Genetic testing revealed a deletion spanning 3.5 Mb and containing 31 genes. The patient presented with a range of clinical manifestations, including growth faltering, short stature, controlled seizure disorder, dysmorphic features, and metabolic disturbances. Regarding dysmorphic features, she presented with malar hypoplasia, a high arched palate, microstomia, long philtrum, proptosis, and retrognathia. Metabolic disturbances were primarily manifested as episodes of hypoglycemia with a high anion gap metabolic acidosis. Despite receiving growth hormone therapy as management for short stature, the patient exhibited low levels of insulin-like growth factor 1 (IGF1). This case report adds to the limited body of knowledge regarding 20p12.3 microdeletion syndrome.

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