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Benign paroxysmal torticollis of infancy.

Benign paroxysmal torticollis is an episodic functional disorder of unknown etiology that occurs in the early months of life in healthy individuals. The child's head tilts to one side for a few hours or days, usually without any associated symptoms. The disorder, which disappears within the first few years of life, is often misinterpreted and the patient pointlessly undergoes numerous tests. We present our series of 22 patients observed at the pediatric neurology outpatients clinic in Padova with a view to refreshing the pediatrician's memory on this frequent, benign pathology.

Adolescent↗

Cephalometric interpretation and assessment of facial asymmetry secondary to congenital torticollis. The significance of cranial base reference lines.

The anatomic basis of the facial asymmetry resulting from untreated congenital muscular torticollis is discussed, and an objective system for both clinical and cephalometric assessment and measurement is described. Symmetry is assessed by first defining a true midfacial line, which allows both measurement of existing asymmetry and planning for subsequent surgical correction, and which can be applied to clinical as well as radiologic analysis.

Adult↗

Surgical correction of the facial deformities secondary to untreated congenital muscular torticollis.

The facial asymmetry which develops in association with untreated congenital muscular torticollis is principally the result of a subcranial torsional rotation of the face toward the affected side. Principles of management are therefore to firstly release the sternomastoid muscle and achieve maximal improvement in head posture, followed by surgical straightening of the face by bimaxillary surgery and septorhinoplasty. The results of this approach in three patients are discussed and illustrated.

Adult↗

Paroxysmal torticollis.

An infant with recurrent episodes of torticollis lasting several hours at a time is presented. The diagnosis is primarily one of pattern recognition and exclusion of alternative diagnoses.

Cognition↗

Short latency trigemino-sternocleidomastoid response in muscles in patients with spasmodic torticollis and blepharospasm.

OBJECTIVES: To further elucidate the pathogenesis of focal dystonias. METHODS: Short latency responses can be recorded in tonically active sternocleidomastoid muscles after stimulation of the infraorbital branch of the trigeminal nerve. Such trigemino-sternocleidomastoid response consists of a bilateral positive/negative wave in the average of unrectified surface EMG, corresponding to a short period of inhibition of motor unit firing. This brain stem reflex was investigated in 10 normal subjects, in 16 patients affected by spasmodic torticollis (ST) and in 10 patients with blepharospasm (BSP). RESULTS: All ST patients presented abnormalities of SCM responses after infraorbital nerve stimulation. The abnormalities were bilateral in all but one of the patients and were independent from previous treatment with botulinum toxin. No BSP patients showed alterations of this reflex. CONCLUSIONS: Abnormalities of brain stem interneurons which are responsible for oligosynaptic exteroceptive suppression reflexes occur specifically in ST. These findings further support the relevance of sensory inputs in the determinism of focal dystonias.

Adult↗

Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.

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.

Adolescent↗

Parapharyngeal abscess and torticollis.

The combination of a parapharyngeal abscess and torticollis in an adult, due to a spastic contraction of the sterno-cleido-mastoid muscle is an extremely rare condition. We have recently been exposed to such case, in which it was very difficult to make the diagnosis and where CT of the neck gave us the answers without any difficulty. The indication for CT at an early stage in unexplained neck infections is stressed.

Abscess↗

The Birmingham mummy: the first torticollis in history.

The Birmingham Mummy is of a warrior, 25-35 years of age, from the Graeco-Roman period. He was struck from the front by an arrow, which penetrated the soft tissues of the neck to some depth and lodged in the right infratemporal fossa. It is suggested that the wound became infected and that muscle spasm induced the torticollis which was not fully corrected on mummification.

Egypt↗

Pathophysiology and pharmacotherapy of spasmodic torticollis: a review.

The few existing neuropathological, neurochemical, and neuropharmacological studies have shed little light on the pathophysiology of spasmodic torticollis (ST). The relevance of experimental ST in animals and drug-induced ST in man to idiopathic ST is unclear. Most pharmacotherapeutic endeavors have focused on drugs affecting basal ganglia function. Unfortunately, problems of sample size, clinical heterogeneity of patient population, research design, objective evaluation of response, documentation of key data, and adequacy of duration of follow-up make interpretation of published results difficult. Because of the heterogeneity of ST, investigations aimed at establishing a neurotransmitter profile for each patient by observing the acute response to a test dose of drugs affecting cholinergic, dopaminergic, serotonergic, and gamma-aminobutyric acid systems may provide a more rational basis to the selection of treatment.

5-Hydroxytryptophan↗

Spasmodic torticollis--review of 220 patients.

220 patients with isolated and idiopathic spasmodic torticollis were followed and treated over a 14 year period. Each patient was given a short questionnaire leading to the present retrospective data analysis. In most areas, including female preponderance and frequency of postural tremor, the findings confirmed previous studies and highlighted particular points: importance of psychopathological antecedents and association with stressful life-events. The discussion deals with some of the conflicting debates surrounding this unusual disorder. What is the role of psychopathological factors? What is the therapeutic prognosis? The best therapeutic results were obtained by combining anticholinergic drugs, local injections and rehabilitation.

Adolescent↗

A pilot study on the use of botulinum toxin in spasmodic torticollis.

Dystonic torticollis has been treated with local injections of botulinum toxin in a single blind study of 12 patients. A significant decrease of abnormal movements was recorded, and pain improved. Further studies are desirable to define the optimum dosage and site for injections, and the long term effects of repeated injections.

Adult↗

New surgical technique for the correction of congenital muscular torticollis (wry neck).

Congenital muscular torticollis (wry neck) results from shortening of the sternocleidomastoid muscle and may lead to limitation of neck movement and craniofacial deformity. If conservative treatment is started early, with a regimen of passive stretching exercises and active strengthening of the contralateral muscle, about 95% of patients achieve an acceptable range of neck movement. The surgical management of patients who do not respond to physiotherapy remains controversial. Its aim is to provide a long-term, cosmetic restoration of neck mobility while minimizing the development of craniofacial deformity and upper cervical scoliosis; few previously advocated techniques achieve both these goals. We describe a technique that combines subperiosteal lengthening of the sternocleidomastoid muscle at its mastoid insertion, and division of lower fibrotic bands with minimal postoperative fibrosis. As the sternomastoid muscle is reattached lower down on the mastoid process, the lengthening of the muscle is stable, because the tendency to fibrosis and shortening is minimized. Comparison of the results with previous series shows that this technique provides immediate benefit and good long-term results.

Adolescent↗

Acquired torticollis due to Grisel's syndrome: case report and follow-up of non-traumatic atlantoaxial rotatory subluxation.

Non-traumatic atlantoaxial rotatory subluxation is an uncommon entity, with inconsistent presentations. It is also known as Grisel's syndrome (GS), and most commonly follows infectious processes of the upper respiratory tract. A case is described of a non-traumatic rotatory atlantoaxial dislocation in a three-year-old boy. The patient presented with acute torticollis one week after mild upper respiratory infection. Neurological evaluation and lumbar punction were normal. After five days of intractable pain and non-reducible rotational tilt of the head to the left, CT and MR imaging were performed and showed atlantoaxial rotatory subluxation. In addition, MRI demonstrated middle ear and mastoid inflammation. Tilt reduction could be obtained through gentle skull traction under sedation and relaxation for 3 days. Antibiotic treatment was performed. The patient was then placed in a Minerva cast jacket. After seven weeks of immobilization, CT demonstrated regular atlantoaxial alignment. Follow-up after 5.5 years showed the boy neurologically intact and free of clinical complaints. Dynamic cervical radiographs confirmed that the atlantoaxial joints were stable.

Atlanto-Axial Joint↗

Painful torticollis with tongue atrophy--a different neck-tongue syndrome.

Two children were referred with neck pain, torticollis, dysarthria, and atrophy of the tongue. The erythrocyte sedimentation rate was markedly elevated in both cases. Radiologic appearances were similar. In both cases the cervical spine was stable. Computerised tomography showed soft-tissue swelling surrounding the odontoid process and distorting the theca. Magnetic resonance imaging showed gadolinium enhancement of the soft tissue overlying the clivus and around the odontoid, impinging on the medulla and high cervical cord. Biopsy in the second case was not diagnostic. Steroids led to a dramatic and sustained improvement in symptoms and a marked decrease in soft tissue mass. The history, elevated inflammatory indices, radiologic appearance and response to steroids, are consistent with an inflammatory process.

Atrophy↗

Uncommon torticollis in children.

We report on one case of uncommon torticollis in children caused by a pencil cap lodged in the neck. Diagnosis had been established two months after the trauma, during a screening for oro-pharyngeal cancer. The foreign body had pierced the posterior wall of pharynx without damaging the spine and large vessels.

Child↗

[Diagnostic value of roentgenologic study methods in idiopathic spasmodic torticollis].

Only in static forms of idiopathic spasmodic torticollis should the cervical spine be X-rayed for differential diagnosis. There is no indication for cranial roentgenograms. CAT of the skull may occasionally help in distinguishing idiopathic from symptomatic-striatal forms. Repeat films of the skull and the cervical spine contribute nothing to diagnosis.

Basal Ganglia Diseases↗

Spasmodic torticollis and other idiopathic torsion dystonias. Medical management.

The pathophysiologic mechanisms of spasmodic torticollis and other idiopathic torsion dystonias remain unknown. Thus, a variety of drugs have been used alone or in combination on an empirical basis to treat these disorders, but to date none have efficacy that is proven and consistent. The drugs in use include anti-cholinergics, benzodiazepines, dopaminergics , and neuroleptics. The variable responses that have been observed are due in part to the heterogeneous nature of these disorders. Trial of several agents or combinations of agents may be necessary before symptoms are satisfactorily controlled. Only when a patient's symptoms are refractory to all medical treatment should he or she be considered a candidate for neurosurgical procedures.

Adrenergic Agents↗

Torticollis due to atlanto-axial rotatory fixation following general anaesthesia.

Atlanto-axial rotatory fixation is uncommon, but should be suspected in any patient developing a torticollis during the recovery period of an operation performed on the head and neck under general anaesthesia. The present case report shows that the condition can occur in adults as well as children. A high degree of suspicion is required to instigate appropriate imaging. CT provides unequivocal proof and will lead to early successful treatment.

Adult↗