Introduction:

Shashi-Pena syndrome is characterized by macrocephaly, intellectual disability and epilepsy, which is confirmed by genetic studies.

Case presentation:

15-year-old male patient, with a history of being preterm at 36 weeks of gestation, weight 1,900 grams. From birth he was detected with peripheral hypotonia and swallowing problems. At the age of three he presented status epilepticus. Currently with learning difficulties. Physical examination revealed macrocephaly and facial anomalies. A skull MRI identified septum cavum vergae. IQ was 53 points. In a molecular study, a variant in the ASXL2 gene, c.2843C>T (p.Ala948Val), was reported.

Conclusions:

variants in the ASXL2 gene are associated with Shashi-Pena syndrome. The diagnosis of this syndrome could result from the detection of patients with macrocephaly associated with other comorbidities.

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