Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report

2001 ◽  
Vol 22 (3) ◽  
pp. 253-256 ◽  
Author(s):  
M. Filosto ◽  
P. Tonin ◽  
G. Vattemi ◽  
L. G. Bongiovanni ◽  
N. Rizzuto ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Cutis Verticis Gyrata

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

2016 ◽  
Vol 173 (3) ◽  
pp. 638-646 ◽  
Author(s):  
Arianna Tucci ◽  
Lidia Pezzani ◽  
Giulietta Scuvera ◽  
Luisa Ronzoni ◽  
Elisa Scola ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Cutis Verticis Gyrata

scholarly journals Siblings with Autism, Mental Retardation, and Convulsions in Tuberous Sclerosis: A Case Report

2016 ◽  
Vol 06 (03) ◽  
pp. 220-226
Author(s):  
Farihan Farouk Helmy ◽  
Adnan Amin Alsulaimani ◽  
Amal Abdulrahman Hunjur ◽  
Shahad Sati Alheraiti
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Tuberous Sclerosis

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

scholarly journals Primary essential cutis verticis gyrata - Case report

2014 ◽  
Vol 89 (2) ◽  
pp. 326-328 ◽  
Author(s):  
Jeane Jeong Hoon Yang ◽  
Daniela Tiemi Sano ◽  
Silvia Regina Martins ◽  
Antonio José Tebcherani ◽  
Ana Paula Galli Sanchez
Keyword(s):  
Case Report ◽  
Cutis Verticis Gyrata

scholarly journals Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females

Medicine ◽  
2018 ◽  
Vol 97 (51) ◽  
pp. e13749 ◽  
Author(s):  
Xinying Zhang ◽  
Na Chen ◽  
Aihua Ma ◽  
Xueyu Wang ◽  
Wenxiu Sun ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Frameshift Mutation
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