WMJ : official publication of the State Medical Society of Wisconsin · 2025
Sturge-Weber Syndrome Without Cutaneous Stigmata Versus Encephalocraniocutaneous Lipomatosis Without Craniocutaneous Lipomatosis: A Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Jewell Tess I, Hsu David A, Arkin Lisa M, Ahmed Raheel, Brucker Justin L, Rebsamen Susan, Seaborg Kristin
Аннотация
INTRODUCTION: Sturge-Weber syndrome and encephalocraniocutaneous lipomatosis (ECCL) are neurocutaneous syndromes with unique presentations.
CASE PRESENTATION: A 15-month-old male presented with focal seizures that progressed to medically refractory focal epilepsy. He had no ocular or cutaneous findings. Imaging demonstrated complex, transdural leptomeningeal enhancement suspicious for pial angiomatosis. Electroencephalogram showed focal seizures from the right posterior region. Sturge-Weber syndrome without cutaneous manifestations was suspected. Following right posterior disconnection surgery, next generation sequencing of affected brain tissue confirmed a mosaic FGFR1 variant, confirming the diagnosis of ECCL.
DISCUSSION: ECCL may have variable expression and should be considered in children with refractory epilepsy and an anatomical brain abnormality.
CONCLUSIONS: Leptomeningeal enhancement is commonly found in Sturge-Weber syndrome but may be seen in other neurocutaneous syndromes, such as ECCL. Hemispheric dysplasia should raise suspicion for a neurocutaneous syndrome, even without oculocutaneous stigmata. Genotype-guided diagnostics for patients with atypical findings may facilitate targeted postsurgical management and lifetime surveillance.
CASE PRESENTATION: A 15-month-old male presented with focal seizures that progressed to medically refractory focal epilepsy. He had no ocular or cutaneous findings. Imaging demonstrated complex, transdural leptomeningeal enhancement suspicious for pial angiomatosis. Electroencephalogram showed focal seizures from the right posterior region. Sturge-Weber syndrome without cutaneous manifestations was suspected. Following right posterior disconnection surgery, next generation sequencing of affected brain tissue confirmed a mosaic FGFR1 variant, confirming the diagnosis of ECCL.
DISCUSSION: ECCL may have variable expression and should be considered in children with refractory epilepsy and an anatomical brain abnormality.
CONCLUSIONS: Leptomeningeal enhancement is commonly found in Sturge-Weber syndrome but may be seen in other neurocutaneous syndromes, such as ECCL. Hemispheric dysplasia should raise suspicion for a neurocutaneous syndrome, even without oculocutaneous stigmata. Genotype-guided diagnostics for patients with atypical findings may facilitate targeted postsurgical management and lifetime surveillance.