Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benign paroxysmal torticollis of infancy (BPTI) is a disorder characterized by recurrent episodes of head tilt secondary to cervical dystonia. Attacks are often accompanied by vomiting, pallor, and ataxia, settling spontaneously within hours or days. Episodes begin within the first 12 months of life and resolve by 5 years. We report four patients with BPTI. Symptoms started from 3 months of age, with head tilting lasting between 10 minutes and 2 months; the shorter episodes were followed by vomiting, apathy, and unsteadiness. Head tilt became less prominent after infancy, replaced by vertigo and eventually by migraine headaches. Two patients came from a kindred with familial hemiplegic migraine linked to CACNA1A mutation. BPTI may be regarded as a migraine aura equivalent. The syndrome poses interesting questions regarding varying phenotypic expression of calcium channelopathies at different stages of development.
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PMID:Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. 1216 87

Familial typical migraine is a common, complex disorder that shows strong familial aggregation. Using latent-class analysis (LCA), we identified subgroups of people with migraine/severe headache in a community sample of 12,245 Australian twins (60% female), drawn from two cohorts of individuals aged 23-90 years who completed an interview based on International Headache Society criteria. We report results from genomewide linkage analyses involving 756 twin families containing a total of 790 independent sib pairs (130 affected concordant, 324 discordant, and 336 unaffected concordant for LCA-derived migraine). Quantitative-trait linkage analysis produced evidence of significant linkage on chromosome 5q21 and suggestive linkage on chromosomes 8, 10, and 13. In addition, we replicated previously reported typical-migraine susceptibility loci on chromosomes 6p12.2-p21.1 and 1q21-q23, the latter being within 3 cM of the rare autosomal dominant familial hemiplegic migraine gene (ATP1A2), a finding which potentially implicates ATP1A2 in familial typical migraine for the first time. Linkage analyses of individual migraine symptoms for our six most interesting chromosomes provide tantalizing hints of the phenotypic and genetic complexity of migraine. Specifically, the chromosome 1 locus is most associated with phonophobia; the chromosome 5 peak is predominantly associated with pulsating headache; the chromosome 6 locus is associated with activity-prohibiting headache and photophobia; the chromosome 8 locus is associated with nausea/vomiting and moderate/severe headache; the chromosome 10 peak is most associated with phonophobia and photophobia; and the chromosome 13 peak is completely due to association with photophobia. These results will prove to be invaluable in the design and analysis of future linkage and linkage disequilibrium studies of migraine.
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PMID:Genomewide significant linkage to migrainous headache on chromosome 5q21. 1608 Jan 25

Single photon emission computed tomography (SPECT) was performed 3 times during attacks and performed 4 times during postictal periods on a case of alternating hemiplegia of childhood. Hyperperfusion of the corresponding hemisphere to hemiparesis was suggested by asymmetric increase RI uptake during the ictal scans, whereas interictal scans showed symmetric topography of cerebral blood flow. Manifestations except hemiplegia included loss of consciousness and vomiting. These manifestations and ictal SPECT findings are the same evidence as hemiplegic migraine. It suggests that these two disorders have a similar pathophysiology. There are two interesting findings regarding this patient. The first finding is magnetic resonance imaging showed progressive cerebellar atrophy. Second finding is interictal SPECT showed a progressive decrease of cerebral perfusion, especially in cerebellar hemispheres. These two findings suggest alternating hemiplegia of childhood may be a chronic progressive disorder.
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PMID:[Single photon emission computed tomography findings in a case of alternating hemiplegia of childhood in relation to migraine]. 1616 48

Headaches represent one of the most common reasons why children and adolescents seek medical attention and are the primary reason that they are referred to pediatric neurology practices. The most common headache syndromes diagnosed are migraine, tension-type, and chronic daily headache, and the bulk of recent medical literature regarding headache in children has focused on these clinical entities. Children are prone to have unusual headache syndromes, most of which fall under the category of "primary headache," most notably as manifestations of migraine with aura. Included within this group are basilar-type and hemiplegic migraine. The most intriguing subset included in the International Headache Society's classification system is the so-called "periodic syndromes of childhood that are precursors to migraine." These syndromes, quite peculiar to children, present a wide variety of episodic symptoms, including movement disorders, vomiting, ataxia, and vertigo, and may not include headache at all. This article provides an overview of some of the more unusual headache syndromes in children and adolescents.
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PMID:Unusual headache syndromes in children. 1789 29

Headache associated with moyamoya disease (HAMD) is common in moyamoya disease. However, the characteristics and classification of HAMD are largely unknown. We present a case of a 39-year-old woman with HAMD. To characterize and classify the features of this syndrome, the patient was asked to complete a 4-month diagnostic headache diary. There was a total of 15 ictal days. All episodes were without aura. The headache was more commonly pressing (10/15), mild to moderate in severity (14/15), unchanged by physical activity (11/15), and associated with photophobia (10/15). The International Headache Society Classification was utilized to determine that eight episodes met criteria for probable migraine without aura, while seven episodes met criteria for probable frequent episodic tension-type headache. We identified four other case reports of HAMD with partial descriptions of the characteristics. When combined with our patient, the median age was 34 years old (range 6-49, SD 16). Four were female, while the patient with cluster headache was male. The median time from headache onset to diagnosis with moyamoya disease was 9.5 months (range 0-192, SD 88.0). Headaches were described as migraine with aura in two of five cases, hemiplegic migraine in one of five, and cluster headache in one of five. The highest intensity was described as severe in three of three cases, in which headache intensity was reported. Meanwhile, nausea, vomiting, and photophobia were present in two of three cases, where these features were reported, while nausea without vomiting was seen in one of three cases. In all five cases, patients had other neurological symptoms, such as paresis, seizures, visual disturbances, dysarthria, allodynia, ptosis, and unilateral restless leg syndrome. In conclusion, HAMD can present as migraine without aura. It can be the first presenting symptom of moyamoya disease. The headache features are not diagnostic; hence, early neurovascular imaging should be considered in patients with new onset, refractory migraine-like headache, especially in the setting of other neurological symptoms to exclude underlying moyamoya disease. Further reports using headache diaries are needed to better characterize HAMD as well as to determine whether headache with tension-type features is also part of this condition.
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PMID:Headache associated with moyamoya disease: a case story and literature review. 2001 51

Hemiplegic migraine is a specific form of migraine with aura including hemiparesis. It is a rare condition of unclear aetiology. The authors present a case of a 14-year-old boy with persistent foramen ovale, suffering from sporadic hemiplegic migraine. The authors broadly describe the symptoms and types of hemiplegic migraine as well as underlining diagnostic and therapeutic difficulties of the attacks. The patient suffered from recurrent severe headaches, vomiting and co-existing focal neurological symptoms, including alternant hemiparesis. On the basis of the history, thorough clinical observation and numerous accessory investigations a diagnosis of sporadic hemiplegic migraine was established. However, the last attack, with prolonged neurological deficits, was treated as a complication of migraine and defined as persistent aura without infarction. The authors also broadly discuss a differential diagnosis, including other stroke-like incidents, vascular diseases, immunological and mitochondrial disorders that mimic the symptoms and clinical course of sporadic hemiplegic migraine.
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PMID:[Sporadic hemiplegic migraine in a 14-year-old boy--a case report]. 2005 61

Migraine is amongst the oldest of diseases known to mankind. Migraine is a heterogenous entity, usually characterised by periodic attacks of headache on one or both sides of the head. These may be accompanied by nausea, vomiting, increased sensitivity of the eyes to light (photophobia), increased sensitivity to sound (phonophobia), dizziness, blurred vision, cognitive disturbances, and other symptoms. Migraines are not always preceded by an aura and some migraines may not include headache. If migraine does not manifest itself in the form of headache but in some other form such as paroxysmal episodes of prolonged visual auras, atypical sensory, motor, or visual aura, confusion, dysarthria, focal neurologic deficits with or without a headache, it is labelled a Migraine Variant (MV). MV is therefore diagnosed by the history of paroxysmal symptoms with or without cephalgia and a prior history of migraine with aura, in the absence of other medical disorders that may contribute to the symptoms. Many of the MVs have been included and redefined in the revised edition of The International Classification of Headache Disorders (ICHD-II) 2004 classification. These include hemiplegic migraine, basilar migraine, childhood periodic syndromes, retinal migraine, complicated migraine and ophthalmoplegic migraine. Even though conditions such as vertiginous migraine, acute confusional migraine of childhood and nocturnal migraine are well recognized entities, they have not yet been included in IHCD-II, but will be discussed here in brief because they are relatively common conditions.
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PMID:Migraine variants and beyond. 2104 1

A 10-year-old boy with psychomotor developmental delay and cerebellar vermis atrophy developed right hemiplegia with vomiting, unconsciousness, convulsions, and late-onset fever. Slow delta activity was noted over the left hemisphere on electroencephalography, and neuroimaging revealed swelling of the left temporo-occipital cerebral cortex with restricted diffusivity, successive transient cortical atrophy, and hyperperfusion over the left cerebral hemisphere. Interleukin-6 was elevated in the cerebrospinal fluid. The acute symptoms resolved completely within 3 weeks after onset, but hypoperfusion persisted in the left posterior cortex thereafter. Another episode with transient left hemiplegia appeared 7 months later, followed by recurrence of migraine attacks. Analysis of the CACNA1A gene revealed a mutation of c.1997 C>T (p.T666M). None of his family members had migraine. This case represents an unusual evolution of sporadic hemiplegic migraine with manifestations of acute encephalopathy, for which the role of migraine-related inflammatory process is assumed.
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PMID:Sporadic hemiplegic migraine presenting as acute encephalopathy. 2213 90

De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear.
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PMID:Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. 2511 28

Introduction Variants in the CACNA1A gene on chromosome 19p13 result in a spectrum of neurological phenotypes ranging from familial or sporadic hemiplegic migraine to congenital or progressive encephalopathies. Patients with CACNA1A variants often show acute attacks with ataxia or hemiplegia till coma, sometimes related to unilateral brain oedema. No guidelines for the medical management of these attacks are available since treatment is empiric, and many cases do not respond to common antimigraine drugs. Case description We report on the emergency personalized treatment protocol used in an 11 year-old girl with CACNA1A-related encephalopathy for the management of acute attacks of headache, hemiconvulsions and hemiplegia with coma. Discussion Combined corticosteroid pulses and hypertonic solution led to a reduction in severity and duration of acute attacks when administered in the early stages, characterized by migraine, seizure, fever, vomiting and impairment of consciousness associated to hemispheric slowing on the EEG.
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PMID:Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade? 2765 Dec 81


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