An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature

Shahin Koomanaee; Setila Dalili; Seyyedeh Azade  Hoseini Nouri; Seyedeh Zohreh Jalali; Manijeh Tabrizi; Ghazaleh Aldaghi; Afagh Hassanzadeh Rad

doi:10.18502/acta.v60i9.11102

Shahin Koomanaee Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Setila Dalili Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Seyyedeh Azade Hoseini Nouri Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Seyedeh Zohreh Jalali Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Manijeh Tabrizi Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Ghazaleh Aldaghi Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Afagh Hassanzadeh Rad Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran

DOI: https://doi.org/10.18502/acta.v60i9.11102

Keywords: Meier-Gorlin syndrome; Seizures; Intellectual disability; Neonatal seizure; Attention deficit disorder with hyperactivity

Abstract

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, and CDC6). This syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia. Special features included microcephaly, microstomia, full lips, micrognathia, narrow convex, and high nasal bridge nose. Also, it may be accompanied by feeding problems, skeletal disorders, urogenital or respiratory anomalies, and intelligence disorders. This case report describes the first Persian MGS accompanied by neonatal seizure, mental retardation, and attention deficit hyperactivity disorder.