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PubMed2003

Post-operative progress of dystonia patients following globus pallidus internus deep brain stimulation.

In the current era of functional surgery for movement disorders, deep brain stimulation (DBS) of the globus pallidus internus (GPi) is emerging as the favoured intervention for patients with dystonia. Here we report our results in 20 patients with medically intractable dystonia treated with GPi stimulation. The series comprised 14 patients with generalized dystonia and six with spasmodic torticollis. Although comparisons were limited by differences in their respective neurological rating scales, chronic DBS clearly benefited both patient groups. Data conveying the rate of change in neurological function following intervention are also presented, demonstrating the gradual but progressive and sustained nature of improvement following stimulation of the GPi in dystonic patients.

Adult↗
PubMed2001

A pictorial review of atlanto-axial rotatory fixation: key points for the radiologist.

Atlanto-axial rotatory fixation (AARF) is a rare condition which occurs more commonly in children than in adults. The terminology can be confusing and the condition is also known as 'atlanto-axial rotatory subluxation' and 'atlanto-axial rotary dislocation'. Rotatory fixation is the preferred term, however, as in most cases the fixation occurs within the normal range of rotation of the joint. By definition, therefore, the joint is neither subluxed nor dislocated. AARF is a cause of acquired torticollis. Diagnosis can be difficult and is often delayed. The radiologist plays a key role in confirming the diagnosis. The classification system proposed by Fielding in 1977 is most frequently used and will be discussed in detail. Given that this classification system was devised in the days before computed tomography (CT), as well as the fact that combined atlanto-axial and atlanto-occipital rotatory subluxation (AORF) is omitted from the classification, we propose a modification to the classification of this rare but significant disorder. The radiological findings in six cases of AARF will be illustrated, including a case with associated atlanto-occipital subluxation. The pertinent literature is reviewed and a more comprehensive classification system proposed. The imaging approach to diagnosis and the orthopaedic approach to management will be discussed.

Adolescent↗
PubMed2000

Occipital plagiocephaly.

The diagnosis of occipital plagiocephaly has remained a complex and controversial issue in the field of craniofacial surgery. Over the past 30 years, numerous studies have been published describing the management and treatment for 'posterior plagiocephaly', 'plagiocephaly without synostosis', 'deformational plagiocephaly' and 'occipital plagiocephaly', with surgical 'correction' being chosen as the primary modality of treatment irrespective of the patency status of the lambdoid sutures. Two hundred and four patients with unilateral occipital plagiocephaly have been seen at the Australian Craniofacial Unit over the past 16 years. Each patient was evaluated by a craniofacial surgeon, paediatric neurosurgeon and paediatric geneticist. All children underwent plain radiographs of the skull to define the sutural anatomy. In those patients where the sutural anatomy was equivocal, 2-D and 3-D CT scans were performed. Only two of the 204 patients (approximately 1%) manifested the clinical, radiographic and pathological features of true unilambdoid synostosis. There was radiographic evidence of sutural fusion on plain films, 2-D and 3-D CT scans. Pathology specimens showed bony sutural fusion. Two hundred and two patients presented with unilateral occipital deformities and patent sutures on radiography. These patients with occipital plagiocephaly in the absence of true synostosis were initially managed conservatively (head positioning, and physiotherapy in those patients with torticollis). Those patients who underwent surgical correction in infancy (21/204) included patients with severe plagiocephaly not responding to conservative therapy (19/204) and the two patients with true unilambdoid synostosis (2/204).One hundred and ninety-one of the total patients (94%) were noted by their parents to have acceptable improvement in their head shape. Thirteen patients were seen within the past year and are too early to assess. Two surgical patients (one fronto-orbital advancement, one occipital craniectomy) and one patient followed conservatively were judged by their parents to be without notable improvement. In our series it is apparent that the majority of cases of occipital plagiocephaly are not secondary to true synostosis and can be managed by conservative positional measures.

Cranial Sutures↗
PubMedDate not supplied

[Symptomatic Langerhans-cell-histiocytosis of the cervical spine in a child: case report].

We report on a six year old female presented with a painful torticollis and a hemidysaesthesia caused by destruction of the third cervical vertebra and a paravertebral soft-tissue mass. At diagnostic routine finally a biopsy gives the diagnosis of Langerhans cell histiocytosis. In a second open approach the destructed vertebral body was replaced by a precisely adjusted autologous bone interponate and the patient was maintained in halo vest immobilisation. The outcome is described and an overview of the current literature is given.

Biopsy↗
PubMed2003

[Grisel's syndrome following ENT-surgery: report of two cases].

BACKGROUND: Non-traumatic atlanto-axial subluxation is a rare complication of upper neck inflammatory processes and head and neck surgery. It is called Grisel's syndrome named after P. Grisel, who first described this condition in 1930. Persistent torticollis following head and neck surgery or upper respiratory tract infections should alert the surgeon to a beginning atlanto-axial subluxation. Due to lax ligaments it especially occurs in children and patients with Down's syndrome. PATIENTS: We present two cases of Grisel's syndrome in children following head and neck surgery with prolonged history, discussing pathogenesis, diagnostic measures and therapy. RESULTS AND CONCLUSIONS: Although there are several theories concerning the actual pathogenesis, it is generally agreed that an inflammatory process is the primary cause of Grisel's syndrome. Therefore, early antibiotic treatment is recommended. Further treatment depends on clinical findings and Fielding classification of the degree of the subluxation and includes muscle relaxations, soft collar or stiff neck, cervical traction or even arthrodesis of C1 and C2. If recognised early and appropriate treatment is applied, the prognosis is excellent. Severe cases can present with degenerative disorders of the cervical spine or even with neurological malfunction.

Atlanto-Axial Joint↗
PubMed2005

[Arnold-Chiari I malformation: three unusual manifestations].

BACKGROUND: Arnold-Chiari Syndrome I is a malformation of the cervicomedullary junction, manifesting usually with downbeat nystagmus, palsy of the caudal cerebral nerves, headache, and vertigo. PATIENTS AND METHODS: We present three patients with unusual symptomatology. RESULTS: A two-year-old child with isolated non-ocular torticollis, a 52-year-old male patient, and a 42-year-old female patient, both with gaze-evoked nystagmus, underwent a cerebral MRI examination. The findings of the first two patients were typical for an Arnold-Chiari syndrome. The malformation in the third patient was found only by reviewing the initial MRI. CONCLUSIONS: Arnold-Chiari malformation may manifest atypically. An important step in the work-up of these patients is to ask the neuroradiologist to include the cervicomedullary junction in his evaluation.

Adult↗
PubMed1996

Unilateral cerebellar aplasia.

We describe three children with unilateral cerebellar aplasia (UCA). Deliveries at term and neonatal periods were uneventful. Pregnancy was normal in one and complicated by mild bleeding (in second and fourth month respectively) in two instances. Presenting signs were delayed motor development with marked contralateral torticollis (n = 1), hemiplegia (n = 1) and unusual head nodding (n = 1). Neuroradiological investigations revealed complete aplasia (n = 1) and subtotal aplasia (n = 2) of one cerebellar hemisphere with only a residual wing-like structure below the tentorium. There was contralateral underdevelopment of the brainstem. The infant with hemiplegic cerebral palsy had an additional supratentorial periventricular parenchymal defect, contralateral to the cerebellar hypoplasia. In view of literature reports, describing similar neuroradiological or neuropathological findings in asymptomatic individuals, it is doubtful whether UCA is responsible for our patient's problems. In our cases UCA has presumably resulted from a prenatal destructive lesion, possibly an infarct, but the timing and exact nature are unknown.

Brain Ischemia↗
PubMed1996

[Reflections on expert assessment of double vision and forced head position].

Visual impairment in patients with diplopia can be assessed using a scoring method in front of a tangent screen. The primary position is the starting position for these measurements. For medicolegal judgement the scoring is based on a suggestion of Haase and Steinhorst, ranging from a disability of 0% to 25%. A new proposal for scoring the field of binocular single vision (BSV) is made here: A field between 30 degrees right and left gaze, 20 degrees upgaze and 40 degrees downgaze is defined as used under every day conditions. It is divided such that diplopia in one lateral half field corresponds to 13% disability, in the upper half 10% and in the lower 18%. Patients suffering from a unilateral superior oblique palsy often show a slight torticollis. In these cases the habitually assumed head position should be taken as the starting posture for the tangent screen measurements.

Abducens Nerve↗
PubMed1998

Postural disorders and dentofacial morphology.

Although the history of opinions regarding poor posture as an etiologic factor for deviant dentofacial development and malocclusions is old, very few controlled studies on this topic have been done. Most of the articles are anecdotal or describe subjective clinical impressions. Some studies do present valid material, but unfortunately they often do not provide enough information about the methods for postural recording. Based on selected studies, this review concludes that there is plausible evidence for an increased prevalence of Angle Class II malocclusions associated with hyperlordosis of the cervical spine and an increased risk of lateral crossbite in children affected by scoliosis and torticollis. Also, documentation of associations between anterior crowding and head posture seem convincing.

Face↗
PubMed1992

Botulinum toxin therapy for neurologic disorders.

In the last 20 years, the therapeutic uses of botulinum toxin, a potent neurotoxin, have been investigated. The agent produces chemical denervation of muscle, thereby causing atrophy and weakness. Studies have shown that injection of this agent is an effective therapy for focal dystonias, particularly blepharospasm, hemifacial spasm, and torticollis. Investigation continues into the role of botulinum toxin in the treatment of anismus, detrusor-sphincter dyssynergia, writers' cramp, and other disorders in which focal weakening of selected muscles could be useful.

Blepharospasm↗
PubMed2004

Avian encephalomyelitis in naturally infected pigeons in Turkey.

The pathological and immunohistochemical findings of avian encephalomyelitis (AE) were described in various tissues of naturally infected pigeons of a flock from a outbreak in Turkey. Clinically, paresis, paralysis, circling movement and torticollis of the head associated with nervous signs were marked symptoms among the diseased pigeons. At necropsy, small or large white-greyish foci were detected in the pancreas, and erosive-ulcerative foci along with petechial hemorrhages in ingluves. Histopathologically, lesions in central nervous system, particularly in the cerebellum molecular layer, consisted of non-suppurative encephalomyelitis. Lesions in the pancreas revealed non-suppurative pancreatitis along with acinar degeneration and necrosis and/or lymphoid aggregations. Immunohistochemical staining of formalin-fixed, paraffin-embedded tissues was performed using a direct-fluorescein antibody technique with chicken anti-AE virus serum fluorescein isothiocyanate conjugate. Viral antigen was strongly stained in cytoplasm of epithelial cells of the exocrine glands, and neurons of the cerebral hemispheres and midbrain. In addition, viral antigen was also marked in the kidneys and tissues of the digestive system. Consequently, this article is, to our knowledge, the first report of natural AE in pigeons.

Animals↗
PubMed2006

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plasma revealed an accumulation of the branched-chain fatty acid pristanic acid, and abnormal bile alcohol glucuronides were excreted in urine. In cultured skin fibroblasts, the thiolytic activity of SCPx was deficient, and no SCPx protein could be detected by western blotting. Mutation analysis revealed a homozygous 1-nucleotide insertion, 545_546insA, leading to a frameshift and premature stop codon (I184fsX7).

Adult↗
PubMed1983

Stereotaxic thalamotomy in 55 cases of dystonia.

The results of stereotaxic thalamotomy in 55 cases of dystonia are presented. The 16 cases with generalized dystonia were of varied pathogenesis, only 7 being typical of the idiopathic form of adolescent onset. Four of the 16 cases benefited considerably, but the others showed little or no lasting improvement. These results are in contrast to those obtained by Cooper (1976). Of the 27 cases with segmental or focal dystonia, 22 had spasmodic torticollis; 16 of these had bilateral thalamotomies, and 62 per cent were much improved. The incidence of operative complications, in particular dysarthria, was high following bilateral lesions. The incidence of hemiparesis, known to have persisted for more than a year, was 15 per cent. This complication was as frequent in those with unilateral as with bilateral thalamotomies. The incidence of dysarthria in those without preoperative bulbar dystonia was much higher in those who had bilateral lesions (56 per cent) as compared with those who had unilateral lesions (11 per cent). The group that has been identified as benefiting greatly from stereotaxic surgery comprises those with hemidystonia following unilateral brain damage. In these patients, symptomatic improvement in abnormal movement is striking and the incidence of operative side effects from unilateral lesions is low.

Dysarthria↗
PubMed1997

Idiopathic focal dystonia: a disorder of muscle spindle afferent processing?

As muscle spindles are involved in the sensation of position and movement of the body, we tested their involvement in the pathophysiology of idiopathic focal dystonia. Twenty patients with torticollis, nine with writer's cramp, two with blepharospasm and 16 healthy control subjects participated. In the first task, the blindfolded subject matched the position of the passively moved forearm with the opposite forearm when the elbow joint was slowly flexed. In a second matching task, passive movement was replaced by stimulation of one biceps tendon with a 50-Hz vibratory stimulus (a selective stimulus for muscle spindle Ia afferents). In normal individuals, this stimulus produces flexion of the vibrated arm around the elbow joint. Movement in both arms was recorded electronically. In experiments without vibratory stimuli, dystonic subjects showed normal movement of the tracking arm during attempts to match the position of the passively moved arm and no difference between the arms in the initial and final steady state positions. In experiments using vibratory stimuli, vibration of biceps tendons in normal subjects elicited flexion of the stimulated arm at the elbow and a matching movement of the opposite arm. In patients with dystonia, there was a similar flexion response to the vibratory stimulus in the stimulated arm but movement of the tracking arm was reduced. Taken together, these experiments suggest that there is abnormal perception of motion, but not position, in dystonic subjects. Dystonic subjects showed bilateral abnormalities of perception of the tonic vibration reflex which were remote from the clinically affected site. These findings are discussed in relationship to the role of muscle spindle Ia afferents in focal dystonia.

Adult↗
PubMed2001

Prospective study of selective peripheral denervation for botulinum-toxin resistant patients with cervical dystonia.

We have carried out a prospective study of selective peripheral denervation (SPD) in cervical dystonia (CD) patients with primary or secondary botulinum toxin (BT) treatment failure using independent standardized assessment. Patients referred for surgery had a standardized clinical examination, neck muscle EMG, videofluoroscopic swallow and CT of the cervical spine, and were selected for surgery on the basis of the results of these investigations. CD severity, disability and pain were assessed preoperatively and at 3, 6, 9, 12 and 18 months postoperatively using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Severity of head tremor and dysphagia were scored using established rating scales. Additionally, psychosocial function was assessed in a representative subsample of patients (n = 12) using several established questionnaires. Of the 62 patients who were assessed, 22 (35.5%) were not offered surgery, most commonly because of widespread dystonia. Of the remaining 40 patients, 37 have so far had surgery, 31 of whom have been followed up for at least 1 year, and 15 for 18 months after surgery (mean follow-up duration 16.7 months). Using the TWSTRS global outcome score, 68% of patients derived functionally relevant improvement at 12 months after surgery. In the entire operated group, total TWSTRS scores were reduced by 30% at 6 and 12 months after surgery (P < 0.0001). The subscores for severity, disability and pain were reduced by 20, 30 and 40%, respectively, at 6 months (P < or = 0.01) and 20, 40 and 30%, respectively, at 12 months (P < 0.01). Pain increased over time, which appeared to result from muscle reinnervation. TWSTRS scores were not significantly improved in the six patients with primary BT treatment failure. Head tremor did not change. There was a significant improvement of body concept, perceived disfigurement, stigma, and quality of life in the 12 patients whose psychosocial function was assessed. Preoperative disability and restriction of head movement were negatively correlated and the initial response to BT treatment positively correlated with global outcome score. Spread or deterioration of dystonia elsewhere in the body occurred in three patients, with unpleasant sensory symptoms in denervated posterior cervical segments occurring in 14. Ten patients developed mild to moderate dysphagia, and two developed severe dysphagia. We conclude that SPD is an effective treatment for patients with secondary, but probably not for those with primary, BT treatment failure. Reinnervation is not infrequent and can compromise outcome. Postoperative morbidity is low, but there is a risk of dysphagia.

Botulinum Toxins↗
PubMed1987

Screening for musculoskeletal deviations--a challenge for the physical therapist. The Utah Study.

We conducted an on-site examination in selected middle and junior high schools in Utah to determine the incidence of selected musculoskeletal deviations. During a regular school year, we screened 4,670 children. The students we examined represented a random sample of students in the sixth through the ninth grades from a population of 81,047 students. Among the 2,192 boys and 2,478 girls examined, we noted a total of 10,551 postural deviations. Eighteen categories of deviations of the musculoskeletal system were examined visually. Lordosis was the most common postural deviation seen (45%), and torticollis was noted least commonly (0%). Scoliosis was noted in 7% of the total population, with a girl-boy ratio of 2:1. Both the lack of body postural awareness we observed among the children and the significant findings of this study should warrant initiation of more responsible educational programs in the public schools. An apparent need for a uniform statewide screening program was demonstrated.

Adolescent↗
PubMed1997

Endoscopic pediatric plastic surgery.

Although the advent of endoscopic technology is expanding the fields of reconstructive and aesthetic surgery in adults, there have been to date no reports of its use in the pediatric population. Because of its minimally invasive nature, yet wide range of exposure, endoscopic techniques have much appeal in this age group. Herein we present our initial experience with endoscopic pediatric plastic surgery. From February 1995 to December 1995, 41 patients were treated utilizing 5-mm and 10-mm endoscopes at Scottish Rite Children's Medical Center, Atlanta, GA. There were 19 males and 22 females. The mean age at surgery was 5.6 years (range, 7 months-15 years). The most common types of procedures performed were insertion of tissue expanders (N = 19), excision of facial dermoids (N = 7), torticollis release (N = 5), and excision of vascular lesions (N = 4). The remaining 6 patients underwent a variety of reconstructive procedures. The complication rate in the tissue expander group was 3 out of 39 expanders inserted (9.5%), and consisted of infection (N = 2) and rupture (N = 1). In the dermoid group, complications consisted of wound infection requiring reoperation (N = 1), and transient frontal paresis (N = 1). One patient in the hemangioma group had an incomplete resection necessitating open excision. The remaining patients all had satisfactory outcomes with no complications. The majority of the procedures were done on an outpatient basis. These results suggest that endoscopic techniques are eminently applicable in the pediatric population, providing the benefits of small and remote incisional wounds with complication rates that are comparable to those of conventional surgical treatment.

Adolescent↗
PubMed2006

Quantifying positional plagiocephaly: reliability and validity of anthropometric measurements.

The treatment of positional plagiocephaly is controversial. A confounding factor is the lack of a proven clinically viable measure to quantify severity and change in plagiocephaly. The use of anthropometric measurements is one proposed method. In this study, the reliability and validity for this method of measurement were investigated. Two clinicians independently recorded caliper measurements of cranial vault asymmetry (CVA) for infants referred for plagiocephaly or torticollis, and an unbiased observer recorded visual analysis scores during the same visit. CVA scores were assigned into three predetermined severity categories (normal CVA < 3 mm, mild/moderate CVA 12 mm). CVA measurements and visual analysis scores were recorded for 71 and 54 infants, respectively. Intrarater reliability was established (kappa = 0.98, kappa = 0.99), but inter-rater reliability was not (kappa = 0.42). In addition, the inter-rater reliability for the severity categories based upon these measures was poor (kappa = 0.28) and failed to correlate to the visual analysis (kappa = 0.31). Development of a stable and meaningful measurement system for the extent of plagiocephaly is needed to allow scientific studies of the natural history of plagiocephaly and effectiveness of interventions.

Age Factors↗