Subependymal Periventricular Heterotopias in a Patient With Ehlers-Danlos Syndrome: A New Case

Abstract

Ehlers-Danlos syndrome is a complex hereditary connective tissue disorder that is characterized by abnormalities of the skin and joints and visceral and neurological manifestations. At present, at least 11 forms are recognized on the basis of their clinical characteristics, methods of transmission, and biochemical defect. The neurologic manifestations include cerebrovascular disease, peripheral neuropathy, plexopathy, periventricular subependymal heterotopias, and epilepsy. Previously, 2 females were reported to be affected with subependimal periventricular heterotopias and Ehlers-Danlos syndrome type 1. The authors report a new case of a 12-year-old girl with similar clinical and neuroradiological features.

Ehlers–Danlos syndrome: A cause of epilepsy and periventricular heterotopia

“…Age of onset is also variable from first year of life to adolescence. 47,[72][73][74][75][76] No correlation has been found between the extent and severity of the PH and frequency of seizures. It has been suggested that onset of seizures can begin simultaneously from periventricular heterotopic cortex and from distantly located cortical areas.…”

Long‐term prognosis of patients with Ehlers‐Danlos syndrome and epilepsy

“…The pathogenesis of neurological manifestations in EDS could be based on the genetic and biochemical anomalies of the connective tissue in this disorder. Some patients affected by epilepsy and EDS presented lesions on brain RMI, particularly PH . It is possible that the nodules, the main lesions of PH, can cause the epileptic manifestations that are present in patients with EDS .…”

“…Some patients affected by epilepsy and EDS presented lesions on brain RMI, particularly PH . It is possible that the nodules, the main lesions of PH, can cause the epileptic manifestations that are present in patients with EDS . Sometimes, other brain lesions are associated with EDS, such as polymicrogyria .…”

“…The association of EDS with PH is difficult to explain. A disruption in the link between the extracellular matrix and cytoskeleton could cause an aberration in cellular migration during development with possible congenital malformations of the vessels and the brain parenchyma, including cortical dysgenesis …”

“…Most cases of patients with PH present epilepsy; the type of seizures is variable, even if most patients have focal seizures with spikes in temporal‐parietooccipital areas, and the severity may range from mild (with remission without anticonvulsant therapy) to intractable epilepsy. Age of onset is also variable from first year of life to adolescence .…”