Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III.

OBJECTIVES: Sturge Weber syndrome (SWS) is a neurovascular condition with an estimated incidence of 1 in 20,000 to 50,000 live births. SWS Types I and II involve cutaneous and ophthalmological findings, with neurological involvement in Type I. SWS Type III is exclusive to brain stigmata. Our study aims to describe the characteristics of brain MRI findings and report neuroradiological features with seizure and cognitive outcomes in patients with SWS Type III. METHODS: This is a retrospective case series examining the clinical, radiological, and cognitive characteristics of patients with SWS Type III referred to the SWS Clinic at Boston Children's Hospital. We analyzed brain MRI findings based on vascular and parenchymal features. Clinical and cognitive outcomes were based on a validated assessment tool in this population (Neuroscore). RESULTS: This dedicated case series of patients with Type III SWS from a single center identified ten patients. All patients had classic stigmata indicative of SWS. Two distinct radiological phenotypes were found, one characterized by more pronounced deep venous enlargement, and the other, with more pronounced parenchymal abnormalities. There was heterogeneity in seizure presentation and outcome. Earlier age of onset and seizures predict more severe outcomes, as seen in classic SWS. CONCLUSION: We could not find significant divergence in outcomes between patients with differing neuroimaging phenotypes. These results raise the question of whether the two distinct radiological phenotypes found in SWS Type III are reflective of different disease entities, with underlying genetic heterogeneity. These results suggest the need for larger, multi-center natural history studies.

A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome.

BACKGROUND: Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications. A major focus moving ahead will be to turn knowledge gaps and unmet needs into new research directions. METHODS: On October 1-3, 2017, the Sturge-Weber Foundation assembled clinicians from the Clinical Care Network with patients from the Patient Engagement Network of the Sturge-Weber Foundation to identify our current state of knowledge, knowledge gaps, and unmet needs. RESULTS: One clear unmet need is a need for consensus guidelines on care and surveillance. It was strongly recommended that patients be followed by multidisciplinary clinical teams with life-long follow-up for children and adults to monitor disease progression in the skin, eye, and brain. Standardized neuroimaging modalities at specified time points are needed together with a stronger clinicopathologic understanding. Uniform tissue banking and clinical data acquisition strategies are needed with cross-center, longitudinal studies that will set the stage for new clinical trials. A better understanding of the pathogenic roles of cerebral calcifications and stroke-like symptoms is a clear unmet need with potentially devastating consequences. CONCLUSIONS: Biomarkers capable of predicting disease progression will be needed to advance new therapeutic strategies. Importantly, how to deal with the emotional and psychological effects of Sturge-Weber syndrome and its impact on quality of life is a clear unmet need.

The value of brainstem evoked potential in clinical decision of a patient with hypoxic-ischemic encephalopathy.

Establishing a prognosis for hypoxic-ischemic encephalopathy during the neonatal period is extremely difficult, as the neuroplasticity of the developing brain makes it almost impossible to measure the affected area. This case report describes a newborn with severe perinatal asphyxia and neonatal neurological syndrome including absent suck reflex. Normal brainstem auditory evoked potential led the diagnosis towards a transitory dysfunction of deglutition, and the subject received daily stimulation in the hospital environment. Suck developed satisfactorily by day of life 30 and the patient was released without having to be tube fed. Neurophysiologic tests can be of value in the clinical decisions and analysis of functional prognosis of patients with hypoxic-ischemic encephalopathy.

The value of brainstem evoked potential in clinical decision of a patient with hypoxic-ischemic encephalopathy

Establishing a prognosis for hypoxic-ischemic encephalopathy during the neonatal period is extremely difficult, as the neuroplasticity of the developing brain makes it almost impossible to measure the affected area. This case report describes a newborn with severe perinatal asphyxia and neonatal neurological syndrome including absent suck reflex. Normal brainstem auditory evoked potential led the diagnosis towards a transitory dysfunction of deglutition, and the subject received daily stimulation in the hospital environment. Suck developed satisfactorily by day of life 30 and the patient was released without having to be tube fed. Neurophysiologic tests can be of value in the clinical decisions and analysis of functional prognosis of patients with hypoxic-ischemic encephalopathy.

Estabelecer o prognóstico da encefalopatia hipóxico-isquêmica durante o período neonatal é extremamente difícil, devido à neuroplasticidade do cérebro em desenvolvimento que impede a medida exata das áreas afetadas. Este relato descreve um recém-nascido a termo com grave asfixia perinatal e síndrome neurológica pós-natal, incluindo ausência do reflexo de sucção. O potencial evocado auditivo do tronco cerebral foi normal, sugerindo o diagnóstico de disfunção transitória da deglutição. Após estimulação diária no hospital a sucção foi obtida satisfatoriamente, e o paciente recebeu alta sem necessidade de alimentação enteral. Os testes neurofisiológicos podem ser de grande valor em decisões clínicas e análise funcional prognóstica de pacientes com encefalopatia hipóxico-isquêmica.