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.

scholarly journals Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation

2010 ◽  
Vol 52 (1) ◽  
pp. 103-104 ◽  
Author(s):  
Timothy J Malpas ◽  
Florence Riant ◽  
Elisabeth Tournier-Lasserve ◽  
Katayoun Vahedi ◽  
Brian GR Neville
Keyword(s):  
Gene Mutation ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Cacna1a Gene

scholarly journals Incidental Finding of Posterior Fossa Epidermoid, In a Head Trauma Patient: A Case Report

2019 ◽  
Vol 17 (1) ◽  
pp. 56-57
Author(s):  
Narendra Prasad Baskota ◽  
K. Singh
Keyword(s):  
Case Report ◽  
Head Injury ◽  
Posterior Fossa ◽  
Head Trauma ◽  
Incidental Findings ◽  
Incidental Finding ◽  
Brain Lesions ◽  
Minor Head Trauma ◽  
Post Operative Period ◽  
History Of

Incidental findings of brain lesions in head injury are seen frequently. In our region NCC is common, but in literature meningioma andarachnoid cyst are common. Here we report a case of incidental finding of posterior fossa epidermoid in a 25 years old male patient who had history of minor head trauma which was operated with relatively uneventful post operative period.

Case report: Transient unilateral cerebral oedema in hemiplegic migraine: MR imaging and angiography

1996 ◽  
Vol 51 (1) ◽  
pp. 72-76 ◽  
Author(s):  
J.F.M. Meaney ◽  
C.E. Willaims ◽  
P.R.D. Humphrey
Keyword(s):  
Case Report ◽  
Mr Imaging ◽  
Cerebral Oedema ◽  
Hemiplegic Migraine

Siblings with Infantile Neuroaxonal Dystrophy

2020 ◽  
Author(s):  
Pulkit Agarwal ◽  
Jyotindra Narayan Goswami
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Febrile Illness ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Motor Delay ◽  
Developmental Regression ◽  
Female Sibling ◽  
History Of

AbstractA 2 years 3 months male toddler with motor delay and his female sibling with history of marked global developmental regression following an intercurrent febrile illness were both noted to have phospholipase A2G6 (PLA2G6) mutation, confirming the diagnosis of infantile neuroaxonal dystrophy (INAD). This case report attempts to familiarize readers with the pleomorphic presentation of INAD and the role of early clinical identification, examination, and prompt genetic testing in establishing a diagnosis.

scholarly journals Specific Kinetic Alterations of Human CaV2.1 Calcium Channels Produced by Mutation S218L Causing Familial Hemiplegic Migraine and Delayed Cerebral Edema and Coma after Minor Head Trauma

2005 ◽  
Vol 280 (18) ◽  
pp. 17678-17686 ◽  
Author(s):  
Angelita Tottene ◽  
Francesca Pivotto ◽  
Tommaso Fellin ◽  
Tiziana Cesetti ◽  
Arn M. J. M. van den Maagdenberg ◽  
...  
Keyword(s):  
Calcium Channels ◽  
Head Trauma ◽  
Cerebral Edema ◽  
Familial Hemiplegic Migraine ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine

scholarly journals Timing of presentation and correlation with computed tomography in pediatric patients with minor head trauma

2018 ◽  
Vol 5 (6) ◽  
pp. 2038
Author(s):  
Karthick Jayapal ◽  
Hassan Adnan Mansour
Keyword(s):  
Computed Tomography ◽  
Head Trauma ◽  
Cross Sectional Study ◽  
Minor Head Trauma ◽  
Cross Sectional ◽  
Increased Risk ◽  
Key Factor ◽  
History Of ◽  
Study Participants ◽  
Type Of Injury

Background: The presentation of minor head trauma warrants immediate and accurate diagnosis for early clinical management among children. Computed Tomography is the gold standard tool for the diagnosis of Traumatic Brain Injury (TBI) among the children. The timing of presentation may have a significant role in predicting the incidence of TBI. This study was done to compare the CT findings among children who presented within and after 24 hours with minor head trauma.Methods: This cross-sectional study was carried out among 992 children between 2-15 years reporting with a history of head injury. All the participants were clinically examined, and relevant history of type of injury and timing of presentation was recorded. CT scan was taken as per PECARN criteria. Data was entered and analysed using SPSS ver 15 software.Results: Majority of the participants belonged to 6-10 years of age (45.2%) and were males (58.5%). About 81.7% of the participants presented within 24 hours. The overall prevalence of TBI among the study participants was 58.6% [55.5-61.6].It was observed that hematoma predominantly presented after 24 hours (74.2%) and majority of the falls presented after 24 hours (92.8%).Patients who presented after 24 hours were at increased risk of presenting as TBI (67.03%) compared to those presenting within 24 hours (56.8%;p<0.05).Conclusions: This study has emphasized the need for including the timing of presentation as a key factor for facilitating early diagnosis and rapid case management of pediatric head trauma.

scholarly journals COVID-19 Induced Pancytopenia in a Major Molecular Response CML patient on Dasatinib: A Case Report and Review of Literature

2021 ◽  
Author(s):  
Balraj Singh ◽  
Sarah Ayad ◽  
Parminder Kaur ◽  
Vinod Kumar ◽  
Sachin Gupta ◽  
...  
Keyword(s):  
Case Report ◽  
Severe Acute Respiratory Syndrome ◽  
Infected Patient ◽  
Molecular Response ◽  
Past Medical History ◽  
Review Of Literature ◽  
Major Molecular Response ◽  
Health Crisis ◽  
Wide Range ◽  
History Of

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes coronavirus disease 2019 (COVID-19), has caused a global health crisis. COVID-19 can have a multifaceted presentation. A wide range of complications and outcomes can emerge based on the severity and comorbidities of the infected patient.  We report a 42-year-old male with past medical history of CML on Dasatinib (in Major Molecular Response) who was diagnosed with COVID-19 and developed pancytopenia. Our case and review of available reports add to the limited literature available regarding COVID-19 in CML.

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