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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in < 15% of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine.
Cephalalgia 2008 Oct
PMID:Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. 1864 40

Pure traumatic atlantoaxial rotatory dislocation (TAARD) is a possible cause of torticollis in children, but very rare in adults. Aim of this study is to report three very rare cases of TAARD in adults, focusing anatomy, management, and outcome. All 3 patients had a head-on automobile accident. Cases included a 26-year old woman, a 21-year old woman, and a 29-year-old man. The first case had a 45-day delay in diagnosis; the second and third cases were suspected to have odontoid lateral mass asymmetry on transoral radiographs. In all cases CT scan confirmed diagnosis and clarified the type of subluxation. All had conservative treatment with reduction and immobilization with Halo-Vest for case 1 and 2, and a rigid cervical collar for case 3. After follow-up of 10 years for case 1 and 2, and 3 years for case 3, all had no sign of C1-C2 complex mobility/instability. Patients 2 and 3 had complete and pain free cervical spine range of motion, while case 1 had stiffness and straightness of the cervical spine, headache, and nerve roots deficits, probably due to the complex cervical spine injury with sagittal imbalance on X-ray and C5-C6 spinal cord compression (pre-existing the trauma). TAARD should be considered in the differential diagnosis of post-traumatic neck pain and limitation, with or without evident torticollis, even in adults. CT scan is mandatory for a correct evaluation of C1-C2 complex. Conservative treatment with reduction followed by 50-60 days of rigid cervical immobilization (3 months in delayed diagnosis) is usually effective. Delay in diagnosis could be the cause of a poor outcome.
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PMID:Traumatic atlantoaxial rotatory dislocation in adults. 1884 10

This review focuses on so-called "periodic syndromes of childhood that are precursors to migraine," as included in the second edition of the International Classification of Headache Disorders. Presentation is characterized by an episodic pattern and intervals of complete health. Benign paroxysmal torticollis is characterized by recurrent episodes of head tilt, secondary to cervical dystonia, with onset between ages 2-8 months. Benign paroxysmal vertigo presents as sudden attacks of vertigo lasting seconds to minutes, accompanied by an inability to stand without support, between ages 2-4 years. Cyclic vomiting syndrome is distinguished by its unique intensity of vomiting, affecting quality of life, whereas abdominal migraine presents as episodic abdominal pain occurring in the absence of headache. Their mean ages of onset are 5 and 7 years, respectively. Diagnostic criteria and appropriate evaluation represent the key issues. Therapeutic recommendations include reassurance, lifestyle changes, and prophylactic as well as acute antimigraine therapy.
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PMID:Childhood periodic syndromes. 2000 56

This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal vertigo, and a fourth, benign paroxysmal torticollis is presented in the Appendix. The key clinical features of this group of disorders are the episodic pattern and intervals of complete health. Episodes of benign paroxysmal torticollis begin between 2 and 8 months of age. Attacks are characterized by an abnormal inclination and/or rotation of the head to one side, due to cervical dystonia. They usually resolve by 5 years. Benign paroxysmal vertigo presents as sudden attacks of vertigo, accompanied by inability to stand without support, and lasting seconds to minutes. Age at onset is between 2 and 4 years, and the symptoms disappear by the age of 5. Cyclic vomiting syndrome is characterized in young infants and children by repeated stereotyped episodes of pernicious vomiting, at times to the point of dehydration, and impacting quality of life. Mean age of onset is 5 years. Abdominal migraine remains a controversial issue and presents in childhood with repeated stereotyped episodes of unexplained abdominal pain, nausea and vomiting occurring in the absence of headache. Mean age of onset is 7 years. Both cyclic vomiting syndrome and abdominal migraine are noted for the absence of pathognomonic clinical features but also for the large number of other conditions to be considered in their differential diagnoses. Diagnostic criteria, such as those of the Second Edition of the International Classification of Headache Disorders and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, have made diagnostic approach and management easier. Their diagnosis is entertained after exhaustive evaluations have proved unrevealing. The recommended diagnostic approach uses a strategy of targeted testing, which may include gastrointestinal and metabolic evaluations. Therapeutic recommendations include reassurance, both of the child and parents, lifestyle changes, prophylactic therapy (e.g., cyproheptadine in children 5 years or younger and amitriptyline for those older than 5 years), and acute therapy (e.g., triptans, as abortive therapy, and 10% glucose and ondansetron for those requiring intravenous hydration).
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PMID:[Childhood periodic syndromes]. 2044 66

Torticollis can be either congenital or acquired. Acquired torticollis is often the manifestation of an underlying central nervous system disorder. Acute painless torticollis should always raise suspicion of a posterior fossa tumor. Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system involving the subcortical white matter, and to a lesser extent, the gray matter. The illness typically has a monophasic course characterized by a variable combination of fever, headache, meningismus, seizures, spasticity, cranial nerve palsies, ataxia, and psychosis. The course, although often clinically severe, is generally benign with most children making a full recovery. A toddler presenting with subacute painless torticollis as the only manifestation of acute disseminated encephalomyelitis is described. The authors believe the neck twist in this child represented a form of dystonia because of basal ganglia involvement. Torticollis has not been reported as a presenting or only sign of disseminated encephalomyelitis.
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PMID:Torticollis as the only manifestation of acute disseminated encephalomyelitis. 2060 59

Lemierre syndrome is an anaerobic bacteremia associated with a septic thrombophlebitis of the internal jugular vein. Septic emboli can be found in many organs. It often occurs after pharyngitis. Today, Lemierre syndrome is quite rare, but without rapid treatment, it may become life-threatening. A 4-year-old child presented with a febrile headache and torticollis. He was influenza A (H1N1)-positive. He also had beta-hemolytic streptococcal pharyngitis. A secondary CT scan was taken because of clinical worsening (non reducible torticollis). Parapharyngeal abscess and septic thrombophlebitis in the left jugular vein were revealed. In spite of negative blood cultures, our patient may have presented Lemierre syndrome. The outcome was favorable using intravenous antibiotics (metronidazole and penicillin) and curative anticoagulation. The thrombophlebitis vanished during a 2-month course of anticoagulation. Lemierre syndrome may occur after viral infections such as EBV or CMV infections. Like those viruses, influenza A (H1N1) virus may induce transient immunosuppression that predisposes to bacterial infections. Our patient had Lemierre syndrome occurring during an influenza A (H1N1) infection.
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PMID:[Lemierre syndrome and influenza A (H1N1)]. 2139 6

Migraine is a frequent primary headache disorder in children and adolescents. Most of the young sufferers of migraine describe typical migraine symptoms but sometimes rare forms of migraine variants and unusual types of migraine occur in children and adolescents. These childhood periodic syndromes are common precursors of migraine. Phenotypes are alternating hemiplegia of childhood, benign paroxysmal torticollis, benign paroxysmal vertigo of childhood, alternating hemiplegia in childhood, Alice in Wonderland syndrome, cyclic vomiting syndrome, acute confusional migraine and abdominal migraine.
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PMID:[Migraine variants and unusual types of migraine in childhood]. 2143 64

Background. Bacterial meningitis is a life-threatening medical emergency that requires urgent diagnosis and treatment. Diagnosis is infrequently missed if the patient presents with the classic symptoms of fever, headache, rash, nuchal rigidity, or Kernig or Brudzinski sign. However, it may be less obvious in neonates, elderly, or immunocompromised patients. Meningitis which presents as isolated torticollis, without any other signs or symptoms, is exceedingly rare. Objective. To identify an abnormal presentation of meningitis in an adult immunocompromised patient. Case Report. We present a case of an adult diabetic male who presented multiple times to the ED with complaint of isolated torticollis, who ultimately was diagnosed with bacterial meningitis. Conclusion. We propose that in the absence of sufficient explanation for acute painful torticollis in an immunocompromised adult patient, further evaluation, possibly including a lumbar puncture may be warranted.
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PMID:Isolated torticollis may present as an atypical presentation of meningitis. 2332 4

Migraine equivalents are a group of periodic and paroxysmal neurologic diseases. Because headache is not a prominent symptom, the diagnosis might be challenging. The objective of the study was to evaluate the frequency and outcome of migraine equivalents. This was a retrospective study. We included benign paroxysmal torticollis of infancy, benign paroxysmal vertigo of infancy, abdominal migraine, cyclic vomiting, aura without migraine, and confusional migraine. We evaluated the frequency of events, treatment, and outcome. Out of 674 children with headache, 38 (5.6%) presented with migraine equivalents. Twenty-one were boys and the mean age was 6.1 years. Fifteen had abdominal migraine, 12 benign paroxysmal vertigo, 5 confusional migraine, 3 aura without migraine, 2 paroxysmal torticollis, and 1 cyclic vomiting. Prophylactic treatment was introduced in 23 patients; 4 lost follow-up and 19 had significant improvement. We conclude that the correct diagnosis of migraine equivalents enables an effective treatment with an excellent outcome.
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PMID:Migraine equivalents in childhood. 2409 92

Examination of the cervical spine is discussed briefly in relation to history, neurological examination, vertebrobasilar insufficiency and x-rays. The general principles of examining cervical movements are presented. Details of the examination are discussed in more detail under the following headings: the upper cervical spine and its examination for cervical headache; the middle cervical spine with its examination being related to spondylosis/arthrosis; the middle and lower cervical spine and its examination related to wry neck, nerve root irritation or compression, and whiplash injury.
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PMID:Examination of the cervical spine. 2502 49


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