Journal article
Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?
- Quade A Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany. Electronic address: aquade@ukaachen.de.
- Wiesmann M Department of Diagnostic and Interventional Neuroradiology, Medical Faculty, RWTH Aachen, Aachen, Germany.
- Weis J Department of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
- Kurth I Department of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
- Jalaie H Department of Vascular Surgery, Medical Faculty, RWTH Aachen University, Aachen, Germany.
- Rohrbach M Connective Tissue Unit, Division of Metabolism and Children's Research Centre (CRC), University Children's Hospital, Zurich, Switzerland.
- Häusler M Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
- 2017-07-26
Published in:
- Pediatric neurology. - 2017
Adenosine Triphosphatases
Adolescent
Angiography, Digital Subtraction
Ehlers-Danlos Syndrome
Female
Humans
Magnetic Resonance Angiography
Muscle Fibers, Skeletal
Muscles
Stroke
Vasculitis
English
BACKGROUND
Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented.
PATIENT DESCRIPTION
This 13-year-old girl with the kyphoscoliotic type of Ehlers-Danlos syndrome experienced a large right middle cerebral artery distribution infarction. Full intravenous heparinization was started in response to presumed arterial dissection. Magnetic resonance imaging studies including magnetic resonance angiography and digital subtraction angiography, however, did not confirm dissection but suggested with cerebral vasculitis extending from the intradural right internal carotid artery to the M2 branches of the middle cerebral artery. Combined steroid and cyclophosphamide therapy was associated with clinical improvement. Two months later she died from hemorrhagic shock caused by a two-sided spontaneous rupture of the aortic artery.
CONCLUSIONS
Cerebral vasculitis should be included in the differential diagnosis of vascular complications in kyphoscoliotic type of Ehlers-Danlos syndrome.
Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented.
PATIENT DESCRIPTION
This 13-year-old girl with the kyphoscoliotic type of Ehlers-Danlos syndrome experienced a large right middle cerebral artery distribution infarction. Full intravenous heparinization was started in response to presumed arterial dissection. Magnetic resonance imaging studies including magnetic resonance angiography and digital subtraction angiography, however, did not confirm dissection but suggested with cerebral vasculitis extending from the intradural right internal carotid artery to the M2 branches of the middle cerebral artery. Combined steroid and cyclophosphamide therapy was associated with clinical improvement. Two months later she died from hemorrhagic shock caused by a two-sided spontaneous rupture of the aortic artery.
CONCLUSIONS
Cerebral vasculitis should be included in the differential diagnosis of vascular complications in kyphoscoliotic type of Ehlers-Danlos syndrome.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1016/j.pediatrneurol.2017.05.017
- PMID 28739362
- Persistent URL
- https://sonar.ch/global/documents/297151
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