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

Malpas, Timothy J.; Riant, Florence; Tournier‐Lasserve, Elisabeth; Vahedi, Katayoun; Neville, Brian

doi:10.1111/j.1469-8749.2009.03493.x

Cited by 28 publications

(21 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The development of cerebral oedema was previously described in hemiplegic migraine. Several pathophysiological mechanisms were proposed, including spreading depression, vasogenic processes, brain perfusion changes and ion channel dysfunction 4 5. A susceptibility to the development of cerebral oedema following angiography with or without hypertension could be hypothesised in our migraine patient, and may explain the strict unilaterality of the oedema.…”

Section: Resultsmentioning

confidence: 84%

Neurotoxic cerebral oedema following coronary angiography

Obermann

Moeller-Hartmann

Naegel

2012

Journal of Neurology, Neurosurgery & Psychiatry

View full text Add to dashboard Cite

A 60-year-old woman was found unconscious in her hospital bed approximately 2 h after routine coronary angiography. Glasgow coma scale was 6, she was intubated immediately and transferred to the intensive care unit. Cerebral computer tomography (CCT) showed unilateral cerebral oedema of the entire right hemisphere without signs of cerebral ischaemia or haemorrhage (figure 1A). No signs of brainstem affection or herniation was seen on initial CCT, but a slight midline shift was present. Neurological examination revealed left-sided hemiplegia and positive Babinski's sign of her left foot. The initial coronary catheterisation was performed as routine diagnostic procedure to assess the extent of suspected coronary artery disease following an observed T wave inversion in the ECG, which turned out to be mild and nonstenotic. During the procedure, no complications were reported except for intermittent elevated blood pressure up to 190/ 95 mm Hg that spontaneously resolved after a few minutes. Follow-up CCT 5 days later showed a completely resolved neurotoxic oedema in parallel with the clinical improvement of the patient who reached full recovery of her neurological symptoms within 10 days from onset (figure 1B). MRI that was performed to exclude underlying cerebral ischaemia or other lesions that might have led to the development of cerebral oedema, but was unremarkable. Past medical history revealed a predominantly right-sided migraine with attacks about once to twice a month. Most attacks were without aura, but she also suffered from infrequent attacks with visual aura. The last migraine attack was approximately 15 years ago. The patient was treated with intravenous dexamethasone 4 mg three times a day over 5 days. She was successfully weaned from the ventilator after suffering from pneumonia, and discharged 2 weeks later in good condition and without neurological deficit. CONCLUSIONIodinated contrast media-related neurotoxicity is a well known but rare complication of cerebral angiography and neurovascular intervention. 1 Clinical symptoms include encephalopathy, epileptic seizures, cortical blindness and other focal neurological deficits. The proposed causative mechanism is disruption of the blood-brain barrier and transit of contrast agent to the cerebral cortex, that leads to a neuronal toxic effect, and intracellular and extracellular oedema. 2 Hypertension is often associated with these transient complications, but its exact role remains subject to discussion. Intermittent elevated blood pressure, as seen in hypertensive encephalopathy (reversible posterior leukoencephalopathy syndrome, reversible cerebral vasoconstriction syndrome) with failure of autoregulation or disruption of the vascular endothelium, may also lead to cerebral oedema. 3 However, this most often affects the posterior brain vasculature, and would probably not lead to unilateral oedema. Most interesting is the past history of migraine attacks that affected mostly her right side. The development of cerebral oedema was previously described in he...

show abstract

Section: Resultsmentioning

confidence: 84%

Neurotoxic cerebral oedema following coronary angiography

Obermann

Moeller-Hartmann

Naegel

2012

Journal of Neurology, Neurosurgery & Psychiatry

View full text Add to dashboard Cite

show abstract

“…Two of them had already been reported. 13,18 The age at first HM attack ranged from 1 to 15 years (mean 7.7 Ϯ 3.4 years). The age at molecular diagnosis ranged from 2 to 36 years.…”

Section: Patientsmentioning

confidence: 99%

“…7 SCN1A has not been involved in patients with SHM so far. 8 CACNA1A and ATP1A2 mutations have been reported in a limited number of patients with SHM [8][9][10][11][12][13][14][15][16][17][18] and a population-based Danish study of 105 patients with SHM concluded that neither CACNA1A nor ATP1A2 were major genes in SHM. 17 Most FHM mutations are missense mutations.…”

mentioning

confidence: 99%

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

Riant

Ducros²,

Ploton³

et al. 2010

Neurology

115

View full text Add to dashboard Cite

show abstract

“…Although acute basal ganglia involvement has not been recognized in HM, a FHM neuropathological study showed neostriatal cystic and granular infarcts with differing appearances, indicating the existence of long‐standing striatal lesions 12 . Recently, a further SHM case carrying the de novo p.Arg349Gln CACNA1A mutation developed the ESCEATHT phenotype after presenting with early‐onset developmental delay 13 . In this 5‐year‐old girl, MRI at the time of the attack revealed left‐sided cerebral edema, but 7 months later T2‐weighted hypersignal was noted over the left striatum.…”

Section: Discussionmentioning

confidence: 99%

Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation

Carreño

García‐Silva

García-Campos

et al. 2011

Headache: The Journal of Head and Face Pain

View full text Add to dashboard Cite

We report the case of a 9-year-old girl with early-onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about progressive deterioration. Two days into one episode, diffusion-weighted magnetic resonance imaging disclosed unilateral striatal abnormal signal consistent with cytotoxic edema, which evolved into atrophy on follow-up scans. Mutational screen of CACNA1A gene identified a de novo p.Tyr1387Cys mutation.

show abstract

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

Cited by 28 publications

References 11 publications

Neurotoxic cerebral oedema following coronary angiography

Neurotoxic cerebral oedema following coronary angiography

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation

Contact Info

Product

Resources

About