Case Report of a Patient with partial Trisomy 13q21.1qter

Introduction: Trisomy 13 (Patau syndrome) is one of the most common autosomal trisomies and is characterized by craniofacial dysmorphologies as well as cardiac and central nervous system abnormalities. Life expectancy is reduced. Most of the children die within the first days and months after birth. However, approximately 10% of the children with total trisomy 13 survive beyond 1 year.

In up to 50% of the cases, Patau syndrome is accompanied by epilepsy. Typical features are an early onset and a generally good seizure control. Common types of seizures are infantile spasms and myoclonic jerks.

EEG recordings show nonspecific findings, although photosensitivity has been an often reported EEG feature. Recent studies show that the epilepsy can just be poorly controlled by antiepileptic medication in the presence of photosensitivity.

Method: We describe a 13-month-old boy with a partial trisomy 13q21.1qter who was born at 36 weeks with a distinct growth retardation. Postnatally, a malalignment-ventricular septum defect and an infundibular pulmonary stenosis plus a tracheo- and laryngomalacia as well as postaxial hexadactyly became apparent. Furthermore, a pronounced cognitive and motoric retardation developed over the course of time.

At the age of 7 months, myoclonic jerks occurred. The EEG revealed multifocal and generalized sharp and (poly-) spike waves. Photosensitivity was not detected.

Initial treatment with sultiam and ethosuximide failed to improve the epileptic situation. The introduction of valproate decreased the frequency of seizures significantly.

Summary: For our patient, semiology and EEG findings match data in literature for children with total trisomy 13. However, despite the absence of photosensitivity, the epilepsy seems difficult to treat.

For patients with trisomy 13 and epilepsy, valproate is the first-line treatment.

Keywords: trisomy 13, epilepsy, EEG, photosensitivity, valproate.