Abstract
Epilepsy is a rare clinical manifestation in Williams–Beuren syndrome patients. However, some studies report the presence of infantile spasms and epilepsy in patients carrying larger deletions. Herein, we describe a 13-year-old female affected by Williams–Beuren syndrome and pharmacoresistant epilepsy reporting a de novo large heterozygous 7q11.21q21 deletion (19.4 Mb) also including the YWHAG gene. Studies indicate that cannabidiol is effective as adjunctive therapy for seizures associated with tuberous sclerosis complex, and it is under investigation also in focal cortical dysplasia. When treated with cannabidiol, our patient showed a significant reduction in seizure frequency and intensity, and improved motor and social skills. We hypothesized that CBD could exert a gene/disease-specific effect.
Highlights
Williams–Beuren syndrome (WBS) is a rare genetic multisystemic neurodevelopmental disorder characterized by typical facial dysmorphisms, short stature, congenital cardiac defects, weakness of connective tissue, and mild-to-moderate intellectual disability (ID); it is caused by a 7q11.23 heterozygous deletion of 1.5–1.8 Mb involving 28 genes [1]; larger atypical deletions are described in 5% of cases [2]
Some studies report the presence of infantile spasms and epilepsy in patients carrying larger deletions [2, 3]
We described a patient with WBS and pharmacoresistant epilepsy due to an atypical larger deletion
Summary
Williams–Beuren syndrome (WBS) is a rare genetic multisystemic neurodevelopmental disorder characterized by typical facial dysmorphisms, short stature, congenital cardiac defects, weakness of connective tissue, and mild-to-moderate intellectual disability (ID); it is caused by a 7q11.23 heterozygous deletion of 1.5–1.8 Mb involving 28 genes [1]; larger atypical deletions are described in 5% of cases [2]. Martino” Hospital, Messina, because of a marked increase in frequency and severity of seizures (four to five seizures/day), with variable semiology (focal seizures or flexion–extension spasms mostly associated with cyanosis, bradycardia, and desaturation) and duration (from few seconds up to 20 min), often requiring treatment with endorectal diazepam and/or hydrocortisone. She was treated with primidone, carbamazepine, diazepam, and levetiracetam (LEV). The patient’s parents did not refer changes in her neurological clinical picture compared to the last valuation
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