Variable Manifestations of Familial Hemiplegic Migraine Associated With Reversible Cerebral Edema in Children

Article · September 2012with27 Reads
DOI: 10.1016/j.pediatrneurol.2012.05.006 · Source: PubMed
Abstract
Three children with familial hemiplegic migraine presented with right-sided weakness, speech difficulty, altered mental status, and gait abnormalities. These persistent aura signs were accompanied by left-sided slowing and cerebral dysfunction, documented by electroencephalograms. Cranial magnetic resonance imaging revealed cortical edema restricted to the left cerebral hemisphere. Follow-up electroencephalogram and imaging studies produced normal results 1-4 months afterward. However, cognitive changes persisted. Genetic testing demonstrated variable results: one child manifested a CACNA1A mutation compatible with familial hemiplegic migraine type 1, whereas another demonstrated an ATP1A2 sequence alteration. No known mutations were evident in the third child, with minor head trauma thought to precipitate the familial hemiplegic migraine. These findings demonstrate the variable clinical and genetic heterogeneity of childhood familial hemiplegic migraine.
    • Deficits were also seen in visual spatial analysis and integration, visual memory, digital agnosias, right-left orientation, and sustained and divided attention. Asghar et al [40] found acute cerebral edema on early imaging, but 1-4 months afterwards, imaging and EEG were normal despite persisting cognitive impairments (i.e., attention, memory, and academic difficulties) in 3 children (ages 8, 13, and 15) with FHM. Most troubling is the evidence for significant symptom variability between the case presentation of a nine year old child who after age 2 had two reported HM attacks resulting in a severe regression in development, autistic demonstrations, and incomplete recovery remaining intellectually disabled (IQ=70 at age 8) [41].
    [Show abstract] [Hide abstract] ABSTRACT: The clinical interview is an important part of a pediatric neuropsychological evaluation. Investigating the history of symptoms, the family, and genetic factors can often clarify etiological information. This manuscript will review a case of a 12 year old girl (HA) who has a family history of migraine headaches, but had previously been diagnosed and treated as a child with multiple mild grade 1 concussions. These suspected concussions were purportedly resulting in infrequent, but intermittent hemiplegic migraines. Specifically, HA suffered Hemiplegic Migraines which involved right dominant hand hemiplegia and significantly altered level of consciousness for approximately 12-24 hours, resulting in a full return to physical and cognitive functioning post recovery. Medical records revealed practitioners did not explore family history or the sequence of events leading up to the migraines. There were even questions in the medical reports suggesting the hemiplegia may have reflected a conversion disorder. However, a thorough clinical interview including family history and neuropsychological, this case appears to show that HA has hemiplegia migraines along with neurocognitive impairments very consistent with previously published cases. Moreover her pattern of performance showed significant score variability and impairments on multiple largely left hemisphere and executive functioning tasks. Her specific cognitive impairments included a variety of left hemisphere cognitive skills (verbal comprehension, reading, bilateral executive deficits) as appears to suggest multifocal left hemisphere cerebral dysfunction.
    Article · Jul 2014
    • Deficits were also seen in visual spatial analysis and integration, visual memory, digital agnosias, right-left orientation, and sustained and divided attention. Asghar et al [40] found acute cerebral edema on early imaging, but 1-4 months afterwards, imaging and EEG were normal despite persisting cognitive impairments (i.e., attention, memory, and academic difficulties) in 3 children (ages 8, 13, and 15) with FHM. Most troubling is the evidence for significant symptom variability between the case presentation of a nine year old child who after age 2 had two reported HM attacks resulting in a severe regression in development, autistic demonstrations, and incomplete recovery remaining intellectually disabled (IQ=70 at age 8) [41].
    Full-text · Article · Sep 2013
    • A fact in favor of the latter opinion is that symptoms of ACM, especially impairment of consciousness, can be included in the BM symptom complex like in case 3, and EEG changes are also similar to those seen in BM[8]. ACM might also be regarded as a variant of FHM, like in case 2[22]. However, case 1 could not be discussed in the context of either BM or HM and the proper diagnosis for this case can only be ACM.
    [Show abstract] [Hide abstract] ABSTRACT: Migraine is common in pediatric neurology practice, while migraine variants are rare and pose diagnostic problems. OBJECTIVE: The aim was to establish the occurrence of migraine variants in pediatric neurology practice and among migraine, and to discuss their presentation. PATIENTS AND METHODS: The files of 2509 newly diagnosed patients, aged 0-18 years, treated as in- and out-patients in the Neuropediatric Ward at the Plovdiv Medical University Hospital between 2002 and 2006 were examined retrospectively. Migraine forms were diagnosed according to ICHD-II. Benign paroxysmal torticolis and alternating hemiplegia of childhood were also accepted as migraine variants according to proposed diagnostic criteria in the appendix of ICHD-II. Some specific forms like acute confusional migraine (ACM), Alice in wonderland syndrome (AWS), ophthalmoplegic migraine were also diagnosed although not included as migraine variants in the ICHD-II classification. RESULTS: 111 patients met diagnostic criteria for migraine. Patients with migraine variants comprised 24.3% of migrainous cases. Basilar type migraine was the most common (6.3% of all migrainous patients), followed by benign paroxysmal vertigo (5.4%), hemiplegic migraine (3.6%), ACM (2.7%), benign paroxysmal torticolis (2.7%), typical aura without headache (1.8%), abdominal migraine (1.8%), AWS (0.9%), ophthalmoplegic migraine (0.9%) and cyclical vomiting (0.9%). Alternating hemiplegia of childhood and retinal migraine was not found. Some patients either presented or were classified as different migraine variants. CONCLUSION: Basilar type migraine was the most common migraine variant. ACM and AWS should be regarded as distinct entities in the ICHD as migraine with complex aura. Benign paroxysmal torticollis also deserves its place as a migraine variant. Cases of ophthalmoplegic migraine with spontaneous remission and no cranial nerve enhancement on MRI should be considered as migraine form. Analyzing migraine variants will contribute to better awareness and adequate diagnosis.
    Full-text · Article · May 2013
  • [Show abstract] [Hide abstract] ABSTRACT: Hoofdpijn bij kinderen is een veelvoorkomend probleem. Op de kinderleeftijd zijn er veel verschillende primaire hoofdpijnvormen, waarvan de meest voorkomende, migraine en spanningshoofdpijn, qua kenmerken niet wezenlijk verschillen van de hoofdpijn bij volwassenen. Op de kinderleeftijd komt een aantal leeftijdsgebonden specifieke migrainetypen voor en specifieke leeftijdsgebonden syndromen die niet direct geassocieerd worden met migraine. De behandeling van de diverse vormen van primaire hoofdpijn kan bestaan uit een medicamenteuze en een niet-medicamenteuze therapie. Alvorens deze behandeling te starten, moet aandacht worden besteed aan leefstijl en voeding, en wordt de mogelijkheid van medicatieovergebruik overwogen. De medicamenteuze behandeling verschilt niet wezenlijk van de therapie bij volwassenen, met uitzondering van het gebruik van triptanen vanaf de leeftijd van 12 jaar.
    Article · Feb 2013
  • [Show abstract] [Hide abstract] ABSTRACT: Sporadic and familial hemiplegic migraines are rare paroxysmal disorders characterized by transient hemiparesis and headache. The distinction is based on whether other family members are affected. In 50% of cases, these migraines are caused by CACNA1 A missense mutations. We describe a patient with a particularly severe phenotype and a de novo R1349Q mutation on the CACNA1 A gene. The patient suffered from early-onset profound mental retardation, epileptic seizures, cerebellar ataxia, and progressive cerebellar atrophy. He experienced prolonged attacks of migraine with hemiparesis, seizures, altered consciousness, and fever resulting from minor head traumas. A prolonged hemiplegic attack improved following a 5-day treatment of 100 mg/d methylprednisolone. R1349Q mutation of the CACN1 A gene is associated with a severe phenotype. Corticoids might be beneficial in prolonged hemiplegic attacks.
    Article · Jul 2013
  • [Show abstract] [Hide abstract] ABSTRACT: ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome. Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes. While classically defined phenotypes associated with AHC, RDP, and CAPOS syndromes are distinct, common elements among ATP1A3-related neurological disorders include characteristic episodic neurological symptoms and signs that vary in severity, duration, and frequency of occurrence. Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor abnormalities, hypotonia, paralysis, dystonia, ataxia, seizure-like episodes, or encephalopathy. Neurodevelopmental delays or persistence of dystonia, chorea, or ataxia after resolution of an initial episode are common, providing important clues for diagnosis. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand beyond the distinct yet overlapping phenotypes in patients with AHC, RDP, and CAPOS syndromes. ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes. Additional work is needed to better identify and classify affected patients and develop targeted treatment approaches. Copyright © 2014 Elsevier Inc. All rights reserved.
    Full-text · Article · Oct 2014
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