Ehlers-Danlos syndromes and epilepsy: An updated review

Cortini, Francesca; Clara, Villa

doi:10.1016/j.seizure.2018.02.013

Cited by 17 publications

(13 citation statements)

References 23 publications

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“…6,9 PH has been reported in patients with Ehlers-Danlos syndrome (EDS). 10 Apart from EDS and FXS, PH has not been reported in any other hereditary syndromes.…”

Section: Discussionmentioning

confidence: 99%

Fragile X Syndrome and Periventricular Heterotopias: A Rare Association

Bidstrup

Hansen

2020

Journal of Pediatric Neurology

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Fragile X syndrome (FXS) is the most common hereditary cause of intellectual disability in males, with an estimated prevalence of 1:4000. Epilepsy occurs in 10 to 20% of males with FXS and usually has a favorable prognosis and positive response to antiepileptic medication. Numerous anomalies in the central nervous system have been reported in FXS. Among these, periventricular heterotopia (PH) has been reported in two previous cases. Epilepsy is also a common comorbidity in PH, but in contrast to epilepsy in FXS, the severity may vary markedly. We present a boy with FXS, PH, and epilepsy—a combination not previously reported in the literature. The presented case suggests a necessity to consider PH in cases of refractory epilepsy or status epilepticus in patients with FXS, emphasizes the importance of ruling out FXS in children with intellectual disability even if there are only discreet or no clinical signs of the disorder, and underscores that FXS should be considered in patients with PH if no other cause can be found.

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“…6,9 PH has been reported in patients with Ehlers-Danlos syndrome (EDS). 10 Apart from EDS and FXS, PH has not been reported in any other hereditary syndromes.…”

Section: Discussionmentioning

confidence: 99%

Fragile X Syndrome and Periventricular Heterotopias: A Rare Association

Bidstrup

Hansen

2020

Journal of Pediatric Neurology

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“…“red dead neurons”) as shown in Figure 6. Of interest, central nervous system disorders and epilepsy can accompany EDS 14 , 15. Structural abnormalities of the central nervous system appear to be the cause of seizures.…”

Section: Clinical Discussionmentioning

confidence: 99%

Spontaneous perforation of small intestine followed by rupture of the cystic artery: the natural history of Vascular Ehlers-Danlos Syndrome

2019

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Vascular Ehlers-Danlos Syndrome (VEDS) is a rare autosomal dominant disorder caused by mutations in the COL3A1 or COL1A1 genes. Its mortality is secondary to sudden and spontaneous rupture of arteries or hollow organs. The genotype influences the distribution of arterial pathology with aneurysms of intra-abdominal visceral arteries being relatively uncommon. We describe the case of a young man with probable VEDS who died of a spontaneous rupture and dissection of the cystic artery. The patient initially presented with abdominal pain due to an unrecognized spontaneous perforation of the small intestine complicated by sepsis. We postulate that inflammatory mediators may have triggered the arterial rupture due to remodeling and weakening of vessel walls. The phenotype of the patient’s vascular damage included bilateral spontaneous carotid-cavernous sinus fistulae and dissection with pseudoaneurysm formation of large- and medium-sized arteries, predominantly the abdominal aorta and its branches. The autopsy uncovered a long history of vascular events that may have been asymptomatic. These findings along with a positive family history supported the VEDS diagnosis. Loeys-Dietz, Marfan, and familial thoracic aortic aneurysm and dissection syndromes were ruled out based on the absence of arterial tortuosity, eye abnormalities, bone overgrowth, and the distribution of vascular damage among other features. Interestingly, microscopic examination of the hippocampus revealed a focus of neuronal heterotopia, commonly associated with epilepsy; however, the patient had no history of seizures. The natural course of VEDS involves the rupture and dissection of arteries that, if unrecognized, can lead to a rapid death after bleeding into free spaces.

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“…A potential complication of all types of Ehlers-Danlos syndrome is the instability of atlantoaxial and atlantooccipital joints, which may cause head and neck pain, dizziness, fainting, nausea, dysphagia, and even lead to quadriparesis. [7] Another neurological aspect is epilepsy described both in patients with and without brain defects, such as periventricular heterotopia or polymycrogyria [7,8]. The pathomechanism linking epilepsy to a hereditary defect of connective tissue remains poorly studied.…”

Section: Tab I Clinical Classification Of Ehlersmentioning

confidence: 99%

“…The pathomechanism linking epilepsy to a hereditary defect of connective tissue remains poorly studied. However, there is an attempt to explain it by the fact that collagen plays an important role in the growth, migration, metabolism and differentiation of neurons [7,8]. Among described cases, epilepsy with generalized tonic-clonic, focal and secondary generalized seizures, most often starting in early childhood, was observed [8,9].…”

Section: Tab I Clinical Classification Of Ehlersmentioning

confidence: 99%

Review of neurological aspects in a 3-month-old boy with Ehlers-Danlos syndrome (EDS) – case report

Dobrucka-Głowacka¹,

Kopyta²,

Jezela‐Stanek³

2018

Child Neurology

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Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders. The actual classification recognizes 13 subtypes of the syndrome. The classic type is the most common and in 90% of cases is caused by mutations in the COL5A1 and COL5A2 genes responsible for the synthesis of type V collagen. In other cases mutations in the COL1A1 gene encoding type I collagen are responsible for this disease. Classic EDS is characterized by skin hyperextensibility, poor wound healing and joint hypermobility. The clinical manifestation is dominated by symptoms from the musculoskeletal system, cardiovascular system, gastrointestinal tract and nervous system. Patients with Ehlers-Danlos syndrome also have a higher prevalence of obstructive sleep apnoea syndrome. The article presents the case of a 3-month-old boy with a classic type of the syndrome with tonic-clonic seizures, apnoea, fever of unknown cause, delayed psychomotor development with hypotonia, gastroesophageal reflux, fragility of blood vessels and easy bruising.

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Ehlers-Danlos syndromes and epilepsy: An updated review

Cited by 17 publications

References 23 publications

Fragile X Syndrome and Periventricular Heterotopias: A Rare Association

Fragile X Syndrome and Periventricular Heterotopias: A Rare Association

Spontaneous perforation of small intestine followed by rupture of the cystic artery: the natural history of Vascular Ehlers-Danlos Syndrome

Review of neurological aspects in a 3-month-old boy with Ehlers-Danlos syndrome (EDS) – case report

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