Ricarda P Tillmann1, Karen Ray2, Sarah E Aylett3. 1. Royal London Hospital, London, United Kingdom. Electronic address: ricarda.tillmann@nhs.net. 2. Great Ormond Street Hospital, Great Ormond Street, London, United Kingdom. 3. Great Ormond Street Hospital, Great Ormond Street, London, United Kingdom; UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Abstract
INTRODUCTION: Sturge Weber Syndrome (SWS) arises from a sporadic condition secondary to a post zygotic mutation in the GNAQ gene, manifested in the majority of cases by capillary malformation of the skin. Children present with seizures, acquired hemiparesis, transient hemiparesis and intellectual disabilities. This project aimed to establish incidence of transient episodes, their recovery time if full recovery was achieved, and events associated with the transient episode. METHODS: This was a retrospective cohort study, approved for clinical audit (Institution number 2182). Children with a diagnosis of SWS seen in a tertiary multidisciplinary clinic from September 2013 to September 2016 were included in the analysis. Data was collated from clinical notes. SPSS 21 was used for analysis. RESULTS: A total of 102 patients had a diagnosed of SWS, the mean age was 10.86 years (range 2-22years). 47/102 participants with SWS had permanent hemiparesis. 32/102 presented with transient episodes. All children with transient hemiparesis had epilepsy. Median recovery time to previous function, following a transient episode was 24 h (range 1 minute-4392 h). All participants fully recovered from the transient episode within a 6 months' time frame. The factors associated with transient episodes were seizures, or a blow to the head. CONCLUSIONS: To our knowledge this is the largest cohort of children with SWS analysed to describe occurrence, association and recovery time of transient hemiparesis. The findings informed service development including change in method to record details of transient episodes. Further information provided to other health professionals will be reviewed.
INTRODUCTION: Sturge Weber Syndrome (SWS) arises from a sporadic condition secondary to a post zygotic mutation in the GNAQ gene, manifested in the majority of cases by capillary malformation of the skin. Children present with seizures, acquired hemiparesis, transient hemiparesis and intellectual disabilities. This project aimed to establish incidence of transient episodes, their recovery time if full recovery was achieved, and events associated with the transient episode. METHODS: This was a retrospective cohort study, approved for clinical audit (Institution number 2182). Children with a diagnosis of SWS seen in a tertiary multidisciplinary clinic from September 2013 to September 2016 were included in the analysis. Data was collated from clinical notes. SPSS 21 was used for analysis. RESULTS: A total of 102 patients had a diagnosed of SWS, the mean age was 10.86 years (range 2-22years). 47/102 participants with SWS had permanent hemiparesis. 32/102 presented with transient episodes. All children with transient hemiparesis had epilepsy. Median recovery time to previous function, following a transient episode was 24 h (range 1 minute-4392 h). All participants fully recovered from the transient episode within a 6 months' time frame. The factors associated with transient episodes were seizures, or a blow to the head. CONCLUSIONS: To our knowledge this is the largest cohort of children with SWS analysed to describe occurrence, association and recovery time of transient hemiparesis. The findings informed service development including change in method to record details of transient episodes. Further information provided to other health professionals will be reviewed.
Authors: Alison J Sebold; Alyssa M Day; Joshua Ewen; Jack Adamek; Anna Byars; Bernard Cohen; Eric H Kossoff; Tomoyuki Mizuno; Matthew Ryan; Jacqueline Sievers; Lindsay Smegal; Stacy J Suskauer; Cameron Thomas; Alexander Vinks; T Andrew Zabel; Adrienne M Hammill; Anne M Comi Journal: Pediatr Neurol Date: 2020-11-02 Impact factor: 3.372