title: Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.
abstract: Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder, caused by heterozygous mutations in TGFBR1 or TGFBR2 and characterized by vascular complications (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations. We here report the first patient with LDS presenting with reversible cerebral vasoconstriction syndrome (RCVS), a clinico-radiological condition characterized by recurrent thunderclap headaches, with or without neurological symptoms, and reversible vasoconstriction of cerebral arteries. The patient was a 9-year-old boy with a heterozygous TGFBR2 mutation, manifesting camptodactyly, talipes equinovarus, and lamboid craniosynostosis. He complained of severe recurrent headaches 2 months after total aortic replacement for aortic root dilatation and a massive Stanford type B aortic dissection. A thoracic CT scan revealed a left subclavian artery dissection. Brain MRI and MRA detected bilateral internal carotid artery constriction along with a cortical subarachnoid hemorrhage without intracranial aneurysms. Subsequently, he developed visual disturbance and a generalized seizure associated with multiple legions of cortical and subcortical increased signals including the left posterior lobe, consistent with posterior reversible encephalopathy syndrome (PRES), a condition characterized by headaches, visual disorders, seizures, altered mentation, consciousness disturbances, focal neurological signs, and vasogenic edema predominantly in the white matter of the posterior lobe. Vasoconstriction of the internal carotid artery was undetectable 2 months later, and he was diagnosed as having RCVS. Endothelial dysfunction, associated with impaired TGF-β signaling, might have been attributable to the development of RCVS and PRES.
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yohei
authors.initials: Y
authors.lastname: Akazawa
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Inaba
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Hachiya
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Motoki
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Matsuzaki
authors.affiliation: Department of Vascular Surgery, National Cerebral and Cardiovascular Center, Suita, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Minatoya
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: Department Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
mesh_terms: D000784:Aortic Dissection / Q000097:blood / Q000235:genetics* / Q000473:pathology; D002536:Cerebral Arteries / Q000378:metabolism / Q000473:pathology; D002648:Child; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D054038:Posterior Leukoencephalopathy Syndrome / Q000097:blood / Q000235:genetics* / Q000473:pathology; D017346:Protein Serine-Threonine Kinases / Q000097:blood / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000097:blood / Q000235:genetics*; D015398:Signal Transduction; D013345:Subarachnoid Hemorrhage / Q000097:blood / Q000235:genetics* / Q000473:pathology; D014661:Vasoconstriction
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II
keywords: Loeys-Dietz syndrome (LDS); endothelial dysfunction; posterior reversible encephalopathy syndrome (PRES); reversible cerebral vasoconstriction syndrome (RCVS)