Sturge Weber syndrome

Tillmann RP, Ray K, Aylett SE. Transient episodes of hemiparesis in Sturge Weber Syndrome - Causes, incidence and recovery. Eur J Paediatr Neurol. 2019 Nov 23. pii: S1090-3798(19)30410-6. doi: 10.1016/j.ejpn.2019.11.001. [Epub ahead of print]

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. 

Harmon KA, Day AM, Hammill AM, Pinto AL, McCulloch CE, Comi AM; National Institutes of Health Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group. Quality of Life in Children With Sturge-Weber Syndrome. Pediatr Neurol. 2019 Dec;101:26-32.

Abstract

AIM:

We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments.

METHODS:

Subjects were seen clinically and consented for research. All 22 patients filled out the Pediatric Neuro-QoL. The Neuro-QoL subscores were converted to T-scores to compare with the referenced control population. Twenty-one participants also filled out the Brain Vascular Malformation Consortium Database Questionnaire containing data pertaining to Sturge-Weber syndrome-related medical history, medications, comorbidities, and family history. All data were analyzed with a significance threshold of P < 0.05.

RESULTS:

Cognitive function quality of life was significantly lower (P < 0.001) in pediatric patients with Sturge-Weber syndrome compared with referenced control subjects. Male gender (P = 0.02) was associated with lower cognitive function Neuro-QoL. The extent of skin (R = -0.46, P = 0.04), total eyelid port-wine birthmark (R = -0.56, P = 0.007), eye (R = -0.58, P = 0.005), and total Sturge-Weber syndrome involvement (R = -0.63, P = 0.002) were negatively correlated with cognitive function Neuro-QoL. A younger age at seizure onset was associated with lower cognitive function Neuro-QoL (hazard ratio = 0.90, P = 0.004) even after controlling for extent of brain, skin, or eye involvement. Antidepressant use was associated with lower cognitive function Neuro-QoL (P = 0.005), and cognitive function Neuro-QoL was negatively correlated with depression Neuro-QoL; however, after adjusting for depression this relationship was no longer significant.

CONCLUSIONS:

The results suggest targeting cognitive function Neuro-QoL in treatment trials and reiterate the prognostic value of early seizure onset. In addition, sex-related differences were noted, which should be further studied.

Courtesy of:  https://www.mdlinx.com/neurology/journal-summaries/index.cfm/317/1/latest/