Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.
To describe the neurologic and neuroimaging manifestations associated with Cantú syndrome.



We evaluated 10 patients with genetically confirmed Cantú syndrome. All adult patients, and pediatric patients who were able to cooperate and complete the studies, underwent neuroimaging, including vascular imaging. A salient neurologic history and examination was obtained for all patients.



We observed diffusely dilated and tortuous cerebral blood vessels in all patients who underwent vascular imaging. White matter changes were observed in all patients who completed an MRI brain study. Two patients had a persistent trigeminal artery. One patient had an occluded right middle cerebral artery. One patient had transient white matter changes suggestive of posterior reversible encephalopathic syndrome. Four patients had migraines with one patient having complicated migraines. Seizures were seen in early life but infrequent. The majority of patients had mild developmental delays and one patient had a diagnosis of autism.



Cantú syndrome is associated with various neurologic manifestations, particularly cerebrovascular findings including dilated and tortuous cerebral vessels, white matter changes, and persistent fetal circulation. Involvement of the KATP SUR2/Kir6.1 subtype potentially plays an important role in the neurologic manifestations of Cantú syndrome.
From George Washington University (C.R.L.G.), Washington, DC; and Washington University School of Medicine (S.P., D.K.G., G.K.S., C.G.N., J.-M.L., K.D.V.), St. Louis, MO.
Christopher R
CR
Leon Guerrero
From George Washington University (C.R.L.G.), Washington, DC; and Washington University School of Medicine (S.P., D.K.G., G.K.S., C.G.N., J.-M.L., K.D.V.), St. Louis, MO.
Sheel
S
Pathak
From George Washington University (C.R.L.G.), Washington, DC; and Washington University School of Medicine (S.P., D.K.G., G.K.S., C.G.N., J.-M.L., K.D.V.), St. Louis, MO.
Dorothy K
DK
Grange
From George Washington University (C.R.L.G.), Washington, DC; and Washington University School of Medicine (S.P., D.K.G., G.K.S., C.G.N., J.-M.L., K.D.V.), St. Louis, MO.
Gautam K
GK
Singh
From George Washington University (C.R.L.G.), Washington, DC; and Washington University School of Medicine (S.P., D.K.G., G.K.S., C.G.N., J.-M.L., K.D.V.), St. Louis, MO.
Colin G
CG
Nichols
From George Washington University (C.R.L.G.), Washington, DC; and Washington University School of Medicine (S.P., D.K.G., G.K.S., C.G.N., J.-M.L., K.D.V.), St. Louis, MO. leejm@neuro.wustl.edu vok@mir.wustl.edu.
Jin-Moo
JM
Lee
From George Washington University (C.R.L.G.), Washington, DC; and Washington University School of Medicine (S.P., D.K.G., G.K.S., C.G.N., J.-M.L., K.D.V.), St. Louis, MO. leejm@neuro.wustl.edu vok@mir.wustl.edu.
Katie D
KD
Vo
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000098:blood supply* / Q000473:pathology; D006332:Cardiomegaly / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000473:pathology; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D059906:Neuroimaging; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D066127:White Matter / Q000000981:diagnostic imaging / Q000473:pathology; D055815:Young Adult