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Common rotational variations in children.

Most rotational variations in young children, such as in-toeing, out-toeing, and torticollis, are benign and resolve spontaneously. Understanding the normal variations in otherwise healthy children is vital to identifying true structural abnormalities that require intervention. A deliberate assessment of the rotational profile is necessary when evaluating children who in-toe or out-toe. In-toeing is usually attributable to metatarsus adductus in the infant, internal tibial torsion in the toddler, and femoral anteversion in children younger than 10 years. Out-toeing patterns largely result from external rotation hip contracture, external tibial torsion, and external femoral torsion. Although congenital muscular torticollis is the most common explanation for the atypical head posture in children, more serious disorders, including osseous malformations, inflammation, and neurogenic disorders, should be excluded.

Child↗

[Hereditary neuropathy with liability to pressure palsies in childhood].

INTRODUCTION: The diagnosis of hereditary neuropathy with liability to pressure palsies during childhood is uncommon, since the disorder is still asymptomatic and the clinical features are nonspecific. CLINICAL CASE: We present a case of hereditary neuropathy with liability to pressure palsies in a seven and a half year old girl with deteriorating clinical findings of 'pies cavos', scoliosis, difficulty in walking and torticollis, but without episodes of paralysis. On the electroneurographic (ENG) study numerous anomalies of sensory and motor nerve conduction were seen, especially at sites of nerve trapping, both in the patient and in her mother; genetic study showed deletions of chromosome 17p11.2 in both. CONCLUSIONS: Hereditary neuropathy with liability to pressure palsiesin childhood may follow a course which does not show typical pressure palsies. Therefore the ENG study is very important for detection of the disorder. Torticollis, as well as pies cavos and scoliosis, is frequently seen in neuropaediatric clinics, so the possibility, as in the case reported, that this is part of the clinical spectrum of hereditary neuropathy with liability to pressure palsies should be considered. With diagnostic confirmation on genetic studies, nerve biopsy is not necessary.

Biopsy↗

[Comparative pathogenicity tests of eight pigeon paramyxovirus 1 variant isolates in pigeons, turkeys and chickens].

Eight pigeon paramyxovirus-1 isolates which were isolated from diseased pigeons were comparatively tested for their pathogenicity in chickens, turkeys and racing pigeons. Intramuscular inoculation of all of the eight viruses resulted in all pigeons in clinical signs like polyuria, lameness of wings and in parts also in torticollis. Also, intravenously inoculated chickens developed distinct signs such as apathy, liquid droppings and in part also torticollis. Six of the eight PMV-1 isolates induced in turkeys similar signs as in chickens; inoculation of two isolates yielded no signs in turkeys. Legal sanitary consequences of the disease due to pigeon PMV-1 infection in chickens and in turkeys should be identical to that of velogenic Newcastle disease.

Animals↗

[Surgical treatment of strabismus in children (a 12-year study)].

A group of 2205 operations of strabismus in the course of 12 years reveals a clear predominance of operations of dynamic strabismus (94%), as compared with surgery of paralytic strabismus and ocular torticollis on account of nystagmus (6%). This fact provides evidence of a marked ratio of a non-paralytic aetiology of strabismus in the child population. In esotropia, the most frequent type of strabismus, the authors consider as most suitable the technique of weakening of the inner rectus muscles by a dosed elongation according to Gonin-Hollwich, as compared with the classical retroposition of this muscle. In exotropia the authors recommend reinforcing operations only or in combination with a weakening operation of the rectus muscles. The gradual development of application of the technique of surgery of the hyperfunctional lower oblique muscle is in favour of treble partial myotomy (elongation). They operate paretic strabismus when the IIIrd, IVth, VIth nerve are affected and supranuclear paresis of the levators by a complex procedure incl. transposition operations of the functional muscles. The authors operate ocular torticollis after a careful analysis of the congenital nystagmus, using special techniques on the rectus and oblique muscles which adjust the position of the head and bulbs.

Child↗

[Evaluation of stress tolerance in the neurological patients].

A purpose of the study was to develop the Stress Tolerance Scale (STS) and to assess its diagnostic efficacy in neurological clinical practice. The theoretical ground for stress tolerance measurement is the concept of personal environmental interaction as a process including phases of the subjective stress event appraisal, active reaction and subjective result appraisal. The STS encompasses the response items of the descriptions of the accomplished and unaccomplished person-environment and self-personal relations that result in stress overcoming or in stress maintenance, respectively. Within each group, the additional variants of the transactions were specified according to their space-temporal characteristics. Data sets from 112 healthy people and 247 patients (60 with chronic tension headache, 72 with chronic low back pain, 51 with myasthenia gravis, 14 with progressive muscular dystrophy, 27 with hereditary polyneuropathy and 23 with torticollis) have been analyzed. The validity and quiantitation of the STS were determined by Rasch analysis and comparison of the results with those of total STS score and subscale scores of the Hospital Anxiety and Depression Scale and Russian brief version of MMPI. All correlations were at a level of significance. A decrease of stress tolerance was found in patients with chronic pain syndromes and torticollis. The results indicate that the STS allows assessing stress tolerance and a structure of person-environment interactions used by a patient. It can be utilized for optimization of short-term psychotherapy of neurological patients.

Adaptation, Psychological↗

[Posterior selective rhizotomy in the treatment of spasticity and muscular dystonias].

The authors analyse the results of 18 operations in patients with spasmodic torticollis (6 cases), spasmodic tetraparesis in combination with hyperkinesia of the type of torsion dystonia and choreoathetosis (3), spasmodic inferior paraparesis, Little's disease (8), and myelopathy (1). Selective posterior and anterior radicotomy was carried out on the cervical level, in 10 patients posterior selective rhizotomy was performed on the lumbar level with division of three fourths of fibres in each bundle forming the roots. The results of the operation were considered satisfactory in spasmodic torticollis and good in Little's disease and spasticity in the lower limbs. Adequate medical and social rehabilitation of the patients was achieved. Operations of the roots in spasmodic tetraparesis and the hyperkinetic syndrome failed to produce the desired effect.

Adolescent↗

[Fibromatosis colli--a benign tumor of the neck in diagnosis and therapy].

Fibromatosis colli is a benign tumor of infancy, and although prognosis is usually good, it is the most frequent cause of congenital torticollis. The clinical picture, sonography, or, if required, CT scans, permit a clear diagnosis. Invasive diagnostic and therapeutic measures should be avoided and restricted to those cases, where a malignancy is suspected with good reason or where local complications due to bulk shifts and compression are anticipated. Even after the usually spontaneous remission of the tumor torticollis may develop later on so that accompanying exercise therapy should be provided from infancy to school age.

Diagnosis, Differential↗

[False negatives in pH measurement. A retrospective study of 12 surgical cases].

Extended esophageal pH-metering is the best method for GER diagnosis, but it has a certain number of false negatives. In a attempt to judge in which extent we can indicate surgery with a "normal" pH-metering study, we have reviewed our 110 operated children since 1982, and selected 12 in whom pH studies were normal. There where five females and seven males with ages ranging between 18 and 90 months. The clinical course until the diagnosis was accepted was long. Nine patients had vomiting, five respiratory disease, six dysphagia, four anemia and three torticollis. Only two were malnourished. There was radiologic GER in all children (with only one hiatal hernia). In spite of "normal" pH-metering, eight had decreased lower esophageal sphincter, and 11 disturbed motility. Nine had endoscopic esophagitis and eight histologic esophagitis. After operation, indicated only after long periods of medical treatment, vomiting disappeared in all, and so did respiratory disease and torticollis. Five families were very satisfied, six rather satisfied (gas bloat syndrome) and one frankly dissatisfied (dysphagia with severe immotility). Based on this evidence, we believe that some limited indications for surgery in GER are acceptable even in the presence of "normal" pH-studies.

Child↗

Effect of tocainide on the concentrations of norepinephrine dopamine, serotonin and histamine in rat brain and its binding affinity to neuroceptors.

Tocainide (W-36095, Xylotocan) is a derivative of lidocaine which is applied clinically as a cardiac antiarrhythmic. In addition, it diminishes the severity of symptoms in neurological disorders such as myotonia and paramyotonia and in patients with torticollis spasmodicus it brings about a distinct reduction in the tension of the neck muscles. It was investigated whether in reducing the tonus in torticollis spasmodicus tocainide could be acting on the central nervous system. The binding affinity of the substance to the dopamine, serotonin, opiate, GABA and benzodiazepine receptors was measured without finding any significant affinities. In addition, the effect of tocainide on the concentration of the neurotransmitters norepinephrine (noradrenaline), dopamine, serotonin and histamine were investigated in rat brain, and it was found that tocainide induces a significant increase in dopamine and serotonin concentrations. This lead to the conclusion that, in addition to its antiarrhythmic effects, tocainide acts on the central nervous system.

Animals↗

Meige syndrome: relief on high-dose anticholinergic therapy.

A patient with Meige syndrome associated with spasmodic torticollis was treated with benztropine mesylate (Cogentin) at doses of 12-16 mg daily. Marked suppression of both oromandibular dystonia and the torticollis was obtained. Mild impairment of recent memory was the major side effect. Peripheral anticholinergic side effects were controlled by the concomitant administration of ambenonium chloride (Mytelase) 15 mg daily.

Ambenonium Chloride↗

Experimentally induced thiamine deficiency in beagle dogs: clinical observations.

Twenty-three 2- to 5-month-old Beagle dogs were fed a purified thiamine-deficient ration (2 to 3 micrograms of thiamine/100 g of ration) at a rate of 40 to 70 g/kg of body weight/day depending on age. Eleven dogs were used as principles, 6 as pair-fed controls, and 6 as ad libitum-fed controls. Controls were treated once a week with an IM dose of 300 micrograms of thiamine hydrochloride/kg of body weight. Three stages of clinical disease occurred in the principals: (i) an initial short (18.0 +/- 7.9 days) stage of induction, during which the dogs usually grew suboptimally, but were otherwise healthy, (ii) an intermediate stage of preliminary clinical signs of deficiency, characterized by a variable period (58.5 +/- 37.0 days) of progressive inappetance, failure to grow, loss of body weight, and coprophagia, and (iii) a terminal stage, which, in most dogs, was abrupt in onset and short (7.6 +/- 6.0 days) and consisted of either a neurologic syndrome or sudden unexpected death syndrome. Eight of the principals developed the neurologic syndrome characterized by anorexia, emesis, CNS depression, paraparesis, sensory ataxia, torticollis, circling, exophthalmos, tonic-clonic convulsions, profound muscular weakness, recumbency, and then died. Common reflex abnormalities included exaggerated patella reflex, proprioceptive and supporting reflex deficits, induced torticollis and ventroflexion of head, and absent eye menace (blink) reflex. Three other principals developed the sudden unexpected death syndrome. Common signs of deficiency were inappetance and paresis. Two were found dead and 1, with severe ECG abnormalities (including elevation of ST segment and tall or deeply inverted T waves), was killed.

Animals↗

Treatment of various movement disorders with botulinum A toxin injection: an experience of 900 patients.

A prospective open study of botulinum toxin A treatment for patients with various movement disorders at Siriraj Hospital, Mahidol University was analysed to evaluate its efficacy. The grand total of 900 patients comprised of a) 592 patients (65.78 per cent) with hemifacial spasm; b) 92 patients (10.22 per cent) with occupational cramp; c) 79 patients (8.78 per cent) with blepharospasm and Meige syndrome; d) 72 patients (8.00 per cent) with spasmodic torticollis; e) 19 patients (2.11 per cent) with hemidystonia and generalised dystonia; f) 11 patients (1.22 per cent) with spasmodic dysphonia; g) 10 patients (1.11 per cent) with spastic hemiparesis; and h) 25 patients (2.78 per cent) with miscellaneous group (i.e. tics, Gilles de la Tourette, facial myokimia, benign fasciculation, etc.). The results of treatment for hemifacial spasm were classified as excellent in 486 patients (82.09 per cent), moderate improvement in 60 patients (10.14 per cent), mild improvement in 39 patients (6.59 per cent) and no improvement or worse in 7 patients (1.18 per cent). There were complications of mild transient facial weakness in 50 patients (8.45 per cent) and mild ptosis in 12 patients (2.02 per cent). The effect of botulinum toxin treatment lasted 3-6 months. In occupational cramp and spasmodic torticollis the good response rate was around two-thirds of all patients, whereas, blephalospasm, spasmodic dysphonia, spastic hemiparesis and tics responsed in 79-88 per cent of the patients. Botulinum toxin A injection is thus a simple, safe, and effective out-patient treatment for patients with various kinds of movement disorders but it is a costly therapy.

Botulinum Toxins↗

[Congenital ptosis of the upper eyelid: indication for early ophthalmological examination].

OBJECTIVE: Description of the results of clinical investigation and surgical correction in patients with congenital upper eyelid ptosis. DESIGN: Descriptive. SETTING: The Eye Hospital, Rotterdam. METHOD: Evaluation of clinical findings and results of operative treatment in 114 consecutive patients with congenital ptosis. RESULTS: Amblyopia was present in 20% of the 114 patients, and was caused by stimulus deprivation due to the ptotic eyelid (22%), strabismus (48%), and refraction disorder (30%). Treatment of amblyopia did not induce visual improvement in 7% of the patients (8/114). These patients were all older than 7 years, meaning they were probably too old for treatment. Of the 114 patients, 14% showed strabismus without amblyopia, 8% showed abnormalities of eye movement without squint, and 6% showed torticollis due to the ptosis. At time of referral 28% were younger than 6 years and 35% had already been treated surgically for the ptosis elsewhere. Operative correction of ptosis induced symmetry within 1 mm in 62%, and symmetry within 2 mm in 22%. Reoperation was performed in 16%. Previous operation elsewhere had no influence on the results. CONCLUSIONS: Patients with congenital ptosis frequently show amblyopia, strabismus, and abnormalities of eye movement. In the patients referred to us, amblyopia had not always been diagnosed and treated in time. Ophthalmological examination in the first year of life is indicated in these patients. If the ptotic eyelid induces deprivation amblyopia or torticollis, direct ptosis correction is indicated. It is advised for psychological reasons to correct elective cases at the age of 4 or 5 years. For this reason, also, patients should be referred sooner.

Adolescent↗

[Clinico-pathological investigation for infantile brain stem glioma: report of two cases].

Thirty-three children harboring brain stem glioma were treated at Nagoya University, Department of Neurosurgery during in the 16-year period from 1976 to 1991. Infantile brain stem glioma is so rare and we have only two cases (6.1%) of all 33 cases. This paper reported clinico-pathological investigation of infantile brain stem glioma. Case 1: Patient 1 was born after 38 weeks gestation, and he showed no mental nor physical retardation. His parents noticed his torticollis at 4 months of age. MRI showed exophytic abnormal enhanced mass behind the medulla oblongata. The mass was partially removed by craniectomy, and its pathological study revealed astrocytoma grade II. Since 3 months after the operation, torticollis had been gradually improved and disappeared completely 6 months later. Case 2: Patient 2 born after 41 weeks gestation, two cafe-au-lait spots were seen on the abdominal skin and hemangiomas were seen on the left shoulder and femoral area. For the initial symptoms, left oculomotor palsy was recognized at 2 months old. CT showed intrinsic enhanced abnormal mass in the mid brain up to the pons and then it invaded into right frontal lobe soon. Open biopsy was performed and the pathological examination revealed astrocytoma grade III. After IAR therapy (Interferon-beta 140 x 10(4), ACNU 20 mg x 2. Radiation; whole brain 40.8 Gy, focal 9 Gy), although left oculomotor palsy was improved temporarily, the tumor enlarged invasively and the patient died at 11 months old.

Brain Neoplasms↗

[Treatments by local injections of botulinum toxin in neurology. Indications and results].

Local injections of botulinum toxin constitute the only truly effective treatment of certain abnormal movements and focal dystonias. The authors describe its indications and report on their personal experience. One hundred and seventeen patients were treated: 48 for blepharospasm, 46 for hemifacial spasm and 23 for spasmodic torticollis. The results were evaluated by means of a score taking into account the effectiveness of treatment, the duration of this effectiveness, the side-effects, if any, observed, and the course of the neurological disorder after several series of injections. The results were good or excellent in 91 percent of patients with hemifacial spasm and 79 percent of patients with blepharospasm. Spasmodic torticollis was much improved in 35 percent of the cases and less, but satisfactorily, improved in 48 percent. In this disease, the muscles which antagonize those responsible for the dystonia must absolutely be re-educated.

Aged↗

[Dystonia preceding dopa-responsive parkinsonism--heterogeneous clinical features].

We report six patients with dystonia-parkinsonism syndrome having a common characteristic clinical course of dystonia with subsequent development of levodopa-responsive parkinsonism. Various types of dystonic symptoms were observed such as hemidystonia, torticollis, axial dystonia, focal dystonia, or cranial dystonia (Meige's syndrome). Intervals between the onset of dystonia and that of parkinsonism varied from one year to about 20 years or the more. Levodopa and a dopamine against had inconstant effects on their dystonic symptoms except for the torticollis of the patients; on the other hand, parkinsonism were well relieved by levodopa in all of them. Dystonic symptoms showed heterogeneous drug effects. Carbamazepine had a beneficial effect on hemidystonia in a patient with hemidystonia-parkinsonism. In a patient with an unilateral hand cramp-ipsilateral parkinsonism, the focal dystonic symptom was evoked by cigarette smoking. Meige's syndrome became worse by the administration of levodopa. In contrast, in a patient with younger onset toriticollis-parkinsonism, both symptoms were fully relieved by levodopa. From the clinical and pharmacological points of views, this type of dystonia-parkinsonism, characterized by dystonia with later development of dopa-responsive parkinsonism, is a syndrome showing heterogeneous dopa-response, and it remains uncertain, at the present, that whether or not patients reported here share the same clinicopathological background such as striatal dopamine deficiency.

Adult↗

Spasmus nutans.

Spasmus nutans is classically described as a triad of nystagmus, head nodding and torticollis. It occurs in children, beginning in infancy and usually disappears in childhood. It is uncommon but its prompt recognition by ophthalmologists, paediatricians and neurologists can provide reassurance to the family of its benign nature. It is important to distinguish it from more serious conditions like gliomas which may present with signs mimicking spasmus nutans. We describe a case of a 3-year-old boy with acquired horizontal pendular nystagmus associated with head nodding and torticollis. The diagnosis of spasmus nutans, its implications and its management are discussed.

Child, Preschool↗

[Botulinum A toxin in the treatment of focal dystonias].

There are 3 clinical groups of dystonia: generalized, segmental and focal. Spasmodic torticollis, blepharospasmus, laryngeal dystonia and graphospasmus belong to the focal dystonia. The aetiology of dystonias is not clear but genetic factors are commonly accepted. Treatment with pharmacological and surgical methods is not satisfactory. Botulinum toxin A(BTX) has brought a new approach to the effective treatment of dystonias. Effectiveness of this method is estimated as 60 to 100%, depending on clinical factors, department and author. BTX acts on neuro-muscular junction and produces chemical denervation but the effect is not persistent and after 3 or more months the treatment should be repeated. The method is harmless and can be administered in out-patients practice. Adverse events are observed in 10% patients but they are not serious and transient. Details are described the methods of BTX injections in spasmodic torticollis, blepharospasmus and laryngeal dystonia.

Botulinum Toxins, Type A↗