Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures

Schinzel-Giedion syndrome (SGS) is a rare genetic syndrome characterized by severe developmental delay, facial dysmorphism, seizures, and multiple congenital malformations. Affected children have increased risk of developing neuroepithelial brain tumors.

We are reporting a case of a 20 months-old boy with profound psychomotor delay, distinctive facial features, congenital cardiac defect and renal malformation, associated with drug-resistant seizures and progressive brain atrophy. Detailed metabolic and genetic investigation was performed. Finally, whole exome sequencing identified a pathogenic variant in SETBP1 gene, which further confirmed the diagnosis of Schinzel-Giedion syndrome.

In conclusion, determining the etiology of disorders characterized by craniofacial dysmorphia, epilepsy, and severe psychomotor retardation is complex and often requires an exhaustive clinical, neuroradiological, metabolic and genetic examination. In the cases with developmental epileptic encephalopathy associated with craniofacial dysmorphic features, renal, cardiac and other congenital malformations, the diagnosis of Schinzel-Giedion syndrome has to be excluded. Given the association of SGS with an increased risk of tumors, accurate diagnosis enables regular monitoring, facilitating early detection and treatment of potential complications or associated disorders.