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PubMedDate not supplied

"Staircase" saccadic intrusions plus transient yoking and neural integrator failure associated with cerebellar hypoplasia: a model simulation.

We present hypothesized ocular motor mechanisms of unique "staircase-like" sequences of saccadic intrusions in one direction that we have named, "staircase saccadic intrusions (SSI)," square-wave jerks/oscillations (SWJ/SWO), and transient failures of yoking and neural integrators in a patient with severe hypotonia, ataxic speech, motor and language developmental delays, and torticollis (Joubert syndrome). Brain magnetic resonance imaging showed hypoplasia of the cerebellar vermis and inferior cerebellar peduncles, abnormal superior cerebellar peduncles with deepening of the interpeduncular fossa, and enlargement of the fourth ventricle. During far and near fixation and smooth pursuit (rightward markedly better than leftward), the subject exhibited conjugate SSI (rightward more than leftward, with intersaccadic intervals equivalent to the normal 250 msec visual latency), SWJ, SWO, and uniocular, convergent and divergent saccades (including double saccades). Simulations using a behavioral ocular motor system model identified hypothetical mechanisms for SWJ, SWO, and SSI and ruled out the loss of efference copy as the cause. SSI may result from simultaneous dysfunctions: 1) a transient loss of accurate retinal-error information and/or sampled, reconstructed error; plus 2) a constant sampled, reconstructed retinal error that drives saccades.

Cerebellar Ataxia↗
PubMed2003

Experimental murine hyalohyphomycosis with soil-derived isolates of Fusarium solani.

Two strains of soil-borne Fusarium solani, both characterized for their ability to produce cyclosporin A and C, were examined for their pathogenicity in severe combined immunodeficiency (SCID) and BALB/c male mice. Intravenous (i.v.) infections with F. solani conidia were performed. No mortality was observed after infection with 0.3-1.6 x 10(7) cfu per mouse in SCID and BALB/c mice. When mice were infected with 0.8-1.5 x 10(6) cfu per mouse and 2 days later with 1.2-1.9 x 10(6) cfu per mouse, 28.6-85.7% survival occurred over a 25-day period, depending on the F. solani strain and the inbred mouse line used. Death was preceded by renal insufficiency affecting both kidneys. Furthermore, i.v. injection with heat-killed conidia followed 2 days later by injecting viable conidia resulted in renal infection in both breeds of mice. F. solani isolated from infected organs was more virulent than the original isolate, and 3/8 (37.5%) of BALB/c and 4/7 (57.1%) of SCID mice died after receiving a single dose. Dissemination to the brain was found only in SCID mice, but torticollis was observed in both mouse breeds. Soil-borne F. solani isolates possess poor pathogenic potential for mice, but either two successive infective doses or a primary injection with heat-killed conidia followed by a single infective dose breaks through host defenses in normal and immunoincompetent mice. Mouse passage increased the pathogenicity of two soil-derived F. solani strains.

Animals↗
PubMed1987

Metastasizing chordoma in early childhood: a pathological and immunohistochemical study with review of the literature.

A 2 1/2-year-old female with a sphenooccipital-vertebral chordoma presented with neck pain, torticollis, fever, a lytic lesion of C2 vertebra, and bilateral nodular infiltrates in the lung. The lung biopsy revealed multiple tumor emboli by an enigmatic epithelioid-appearing neoplasm with immunohistochemical staining for vimentin, cytokeratin, and epithelial membrane antigen. A thorough roentgenographic evaluation disclosed a destructive, prepontine mass in the region of the clivus, erosion of the odontoid process, and compression of the cervical spinal cord. The patient died after a clinical course of 3 months. We identified 16 additional cases of metastasizing chordomas in the pediatric-age population; this case is the first to our knowledge with pathologically documented pulmonary metastasis at presentation.

Bone Neoplasms↗
PubMed1984

Experimental hemichorea/hemiballismus in the monkey. Studies on the intracerebral site of action in a drug-induced dyskinesia.

Antagonists of the neurotransmitter gamma aminobutyric acid (GABA) were injected at seventy intracerebral sites in the conscious monkey. Injections located in or near to the subthalamic nucleus provoked involuntary movements of the contralateral limbs. These movements had the characteristics of chorea and, when severe, resembled hemiballismus as seen following subthalamic nucleus lesions in man and monkey. Localized injections of GABA antagonists into the medial segment of the globus pallidus were without observable effect on motor activity. These observations are discussed with regard to the role of GABA in subthalamopallidal relations. Injection of GABA antagonists at some other sites provoked different forms of dyskinesia. Injections in or near the zona incerta adjacent to the subthalamic nucleus induced torticollis and circling behaviour either in isolation or in addition to contralateral limb dyskinesia. Injections at some sites located in the lateral segment of the globus pallidus or in the putamen induced choreoathetoid or myoclonic movements, respectively.

Animals↗
PubMed1994

A study of hereditary essential tremor.

Twenty index patients with hereditary essential tremor and their kindreds were studied to define the phenotype of this condition. Ninety-three first degree and 38 more distant relatives were examined; 53 definite and 18 possible secondary cases were identified. The age of tremor onset was bimodally distributed with a median at approximately 15 years. Segregation analysis indicated autosomal dominant inheritance and penetrance was virtually complete by the age of 65 years. There were no examples of the disease skipping a generation. Men and women were affected in equal proportions. About 50% of cases were alcohol responsive. In the majority of families alcohol responsiveness was either consistently present or did not occur, but in 20% of kindreds definite heterogeneity of responsiveness was encountered within each family. The typical phenotype was a mild symmetrical postural tremor of the upper limbs. Tremor of the legs, head, facial muscles, voice, jaw and tongue occurred but never in isolation and rest, task specific (e.g. primary writing tremor) and primary orthostatic tremors were not found. Head tremor was invariably mild and 75% was of a 'no-no' type. Dystonia (e.g. torticollis and writer's cramp) were not encountered, a finding which strongly suggests that many previous studies of 'essential tremor' were contaminated by cases of idiopathic or hereditary torsion dystonia. No association with Parkinson's disease was found but classical migraine occurred in approximately 26% of cases and co-segregated with tremor. The severity of arm tremor (assessed using a clinical rating scale and by scoring tremor in Archimedes spirals) and disability increased with advancing age and increasing tremor duration, but there was no correlation between age at tremor onset and either tremor severity or disability. Men and women were affected with equal severity. The sex of the affected parent had no influence on the severity of tremor or the degree of disability experienced by an affected child. Disability commenced in the second decade and progressively increased. All the index patients and 59% of the definite secondary cases had tremor induced disabilities. Eighty-five percent of index patients and 38% of secondary cases also reported some degree of social handicap. Twenty-five percent of index patients and 12% of secondary cases had been compelled to change jobs or retire. Biological fitness was normal.

Adolescent↗
PubMed1995

Non-decussating retinal-fugal fibre syndrome. An inborn achiasmatic malformation associated with visuotopic misrouting, visual evoked potential ipsilateral asymmetry and nystagmus.

We report a newly identified syndrome in which nasal retinal fibres fail to decussate due to the inborn absence of an optic chiasm. Visual evoked potential (VEP) assessment and neuro-opththalmic evaluation in two unrelated, non-albino children revealed the unusual visual pathway anomaly in the form of misrouted retinal-fugal projections. Monocular VEP responses across the occiput, regardless of stimulus mode (full- or partial-field pattern onset, pattern reversal, luminance flash or high temporal frequency luminance flicker) showed unequivocal evidence of pathological VEP ipsilateral asymmetry. Marked attenuation of primary visual evoked responses from the occiput contralateral to the eye of stimulation, indicative of aberrant contralateral retinal-fugal projections, was confirmed by MRI which depicted the remarkable achiasmatic condition. MRIs and neurological evaluation also confirmed the absence of accompanying congenital or acquired brain malformations or anomalies. Ophthalmic evaluation revealed that both achiasmatic children had reduced distance acuity for age, alternating esotropia, torticollis, head tremor and ocular motor instability; visual fields were normal. Eye movements were also monitored and indicated congenital nystagmus waveforms in the horizontal plane; see-saw nystagmus was observed in the the horizontal plane; see-saw nystagmus was observed in the vertical and torsional planes. The age range of the two children during evaluation and follow-up, over a 6-year period, was about 4-15 years. Comparisons of VEP responses from age-matched normal, albino and idiopathic congenital nystagmus controls, recorded under the same VEP test conditions, were also performed. In contrast to the achiasmatic ipsilateral inter-ocular asymmetry, the albinos showed the expected monocular VEP topography pattern of contralateral asymmetry. Also as expected, VEP profiles from the normal controls and those with congenital nystagmus, evinced no aberrant asymmetry patterns. In general, the results indicate that the VEP misrouting protocol is indispensable for the non-invasive electrophysiological detection and differential diagnosis of optic pathway mutations and may well identify individuals with purported idiopathic congenital nystagmus or albinism that are, in fact, achiasmatic.

Adolescent↗
PubMed1998

The natural history of tardive dystonia. A long-term follow-up study of 107 cases.

The clinical picture, risk factors and natural history of tardive dystonia resulting from dopamine-receptor antagonist (DRA) treatment in 107 patients (57 male and 50 female), seen between 1972 and 1995, are described. The mean age at onset (+/- SD) was 38.3 +/- 13.7 years (range 13-68 years), and the age at last follow-up was 46.3 +/- 15.7 years (range 15-80 years). These patients had received DRAs for schizophrenia (39%), for other psychiatric conditions (51.5%) and for non-psychiatric disorders (9.5%). All classes of neuroleptics used were implicated in producing tardive dystonia, which was found to develop at any time, ranging from 4 days to 23 years after their introduction (median 5, mean 6.2 +/- 5.1 years); there was no 'safe' period. Men were significantly younger than women at onset of dystonia, which developed after shorter exposure in men. At onset, the dystonia was focal in 83% of cases, but progressed over months or years and remained focal in only 17% at the time of maximum severity. The craniocervical region was involved in 87% of cases, and was the most commonly affected site both at onset and at maximum severity. There was a correlation between the site and age of onset; the site of onset ascended from the lower limbs to the face as the mean age of onset increased. Overall, the phenomenology of tardive dystonia was indistinguishable from that of primary (idiopathic) dystonia, although retrocollis and anterocollis, as well as torticollis to the right, were significantly more common in tardive dystonia. It is a very persistent disorder; only 14% of our patients had a remission over a mean follow-up period of 8.5 years. Remission occurred after a mean of 5.2 years from onset (range 1-12 years) and 2.6 years after discontinuation of neuroleptics (range 1 month to 9 years). Discontinuation of neuroleptics increased the chances of remission fourfold. Patients with < or = 10 years on neuroleptics had a five times greater chance of remission than those with > 10 years exposure, suggesting that the pathogenetic changes in tardive dystonia may become irreversible after long-term use of these drugs. None of the numerous treatments tried in these patients, including clozapine and botulinum toxin injections, seemed to relate to overall outcome, but there was a significant negative association between the occurrence of remission and the use of benzodiazepines. Although there were hints of a possible genetic predisposition, the question as to whether patients with tardive dystonia have an underlying vulnerability remains unanswered.

Adolescent↗
PubMed1976

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees.

Three pedigrees are described in which 28 living siblings suffered from a benign myopathy. The first symptoms were observed around the fifth year of life. The proximal muscles were more involved than the distal muscles, the extensors more than the flexors. Due to a marked paresis of the extensor digitorum communis muscles 22 patients showed a flexion contracture of the interphalangeal joints of the last four fingers. In addition 20 patients showed a flexion contracture of the elbows and 12 patients had a plantar flexion contracture of the ankles. A high incidence of congenital torticollis was found. The histopathological features were non-specific and remarkably uniform and consisted of a marked variation in muslce fibre diameter and a very marked increase of fatty tissue. Light-microscopy and electronmicroscopy did not show any specific structural changes. There was normal distribution of type I and type II fibres, without type-grouping or preferential atrophy of one of the fibre types. Lobulated type I fibres were found in 6 out of 12 biopsies. Post-mortem study of one case did not show any convincing features of a neurogenic disorder. As no relationship could be found between the siblings of the 3 pedigrees as far back as the beginning of the eighteenth century, this myopathy seemed to be a new nosological entity.

Adolescent↗
PubMed2001

Adverse effects of dietary lupine in broiler chickens.

This study describes the adverse effects of dietary lupines in broiler chickens for which lupine seeds (Lupinus angustifolius) in raw, dehulled, or autoclaved forms were used as a replacement for soybean meal (SBM) in practical diets. Test diets contained 35% SBM (control) or raw (40%), autoclaved (40%), or dehulled (35%) lupine seed meal. All diets were isocaloric (3,230 kcal/kg AME) and isonitrogenous (23% crude protein). Each diet was offered ad libitum to a group of 16 (four replicates with four birds per replicate) day-old male broiler chicks for 21 d. Chemical analysis of lupine seeds showed no detectable levels of mycotoxins, and total alkaloid contents were below 0.01%. Decreased food intake and growth rate were the main signs observed in all birds fed lupine-based diets. These adverse effects were observed during the first week and persisted throughout the trial. Acute signs of toxicity were observed in four chicks fed the diet containing raw lupine seed during the first week of exposure. Initial clinical signs included leg weakness, lack of coordination, and torticollis. In later stages, during Weeks 2 and 3, some birds fed lupine-based diets showed signs of muscle paralysis and skeletal deformity. Postmortem examination did not show gross pathological changes associated with the dietary treatments. Liver microsomal cytochrome P-50 content was higher (P < 0.05) in birds fed the raw lupine-based diet (mean 0.56 pmol/mg protein) in comparison with controls (mean 0.25 pmol/mg protein), which indicated a systemic effect. Based on the present results, it can be stated that high levels of some varieties of sweet lupines in broiler diets may cause significant adverse effects manifested as 1) decreased feed intake and growth rate in most of the birds, and 2) specific signs of acute and chronic toxicity in some individuals.

Animal Feed↗
PubMed1993

Intra-articular inclusions of the cervical synovial joints.

Two hundred and ten cervical synovial joints from 15 adult vertebral columns were studied by dissection to determine the form, dispositions and prevalence of intra-articular inclusions. Three types of inclusions were found. Fat pads occurred regularly in the atlanto-occipital joints but rarely in the zygapophysial joints. Capsular rims occurred occasionally at all levels. Fibro-adipose meniscoid occurred regularly in the atlanto-axial and zygapophysial joints. The function of fibroadipose meniscoids seems to be to protect the articular cartilages in gliding joints that subluxate during normal movement. Arguments are raised that these structures may act as a nidus for intra-articular fibrosis, and that meniscus extrapment may be a mechanism for torticollis.

Adipose Tissue↗
PubMed1996

Supernumerary limbs: a case report of a rare congenital anomaly.

We report a case of an 18-month-old female who presented with three supernumerary upper limbs of varying lengths on the right side. Each limb had a proximal, middle, and distal segment, and an intercalated elbow and wrist joint. A single digit was present in the superior limb, three digits in the middle limb, and two digits in the caudal-most limb. Right plagiocephaly, congenital torticollis, scoliosis involving the upper and mid thoracic region, and a hypoplastic right pectoralis major were the other abnormal features noted. Radiography showed two scapulae, humerus, a single forearm bone in each limb, and rudimentary metacarpals and phalanges. Limb duplication may rarely be encountered in parasitic conjoined twins. The role of mutagens, drugs, cellular contributions, and morphogens in the growth and differentiation of limbs has been studied in animals. It is rather difficult to deduce the time of action of the factors responsible for such a malformation.

Arm↗
PubMed2000

Saethre-Chotzen syndrome: review of the literature and report of a case.

Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral fissures, nasal deviation with high bridge, angled ears, scoliosis and torticollis, clinodactyly of the fourth and fifth toes, large halluxes, and neurosensorial hypoacusia. For correction of the deformity, a cranioorbital remodeling was performed. The craniofacial approach with remodeling of the frontal bar and reduction of the turricephaly resulted in a satisfactory morphological and functional outcome, with complete three-dimensional reshaping and remodeling of the frontonasoorbital area.

Acrocephalosyndactylia↗
PubMed1989

Three-dimensional computed tomography in evaluation of occipital condyle fracture.

Fracture of the occipital condyle is a rare sequela of craniocervical trauma. The diagnosis can be suspected in an injured patient with disproportionate torticollis, uncertain evidence of subluxation, and lower cranial nerve symptoms. Standard radiographic diagnosis of this fracture is difficult owing to its superimposition on other bony structures. Film tomography or computed tomography (CT) is usually required to identify the fracture. We report a case of occipital condyle fracture initially masked by atlantoaxial subluxation, but then best demonstrated by three-dimensional CT.

Aged↗
PubMed1990

Recordings from human dorsal column nuclei using stimulation of the lower limb.

Responses from the surface of the dorsal column nuclei and the dorsal surface of the spinal cord were recorded using monopolar electrodes after stimulation of the lower limbs (common peroneal nerve at the knee and posterior tibial nerve at the ankle) in patients undergoing neurosurgical operations for spasmodic torticollis. Those responses were smaller in amplitude than responses to stimulation of the upper limbs (median nerve at the wrist), and the waveforms differed. The negative deflection that is prominent in the response to stimulation of the upper limbs is more variable, broader, and relatively smaller in amplitude than the response to upper limb stimulation. Another difference between responses to upper and lower limb stimulation was that multiple peaks were superimposed on the initial response to stimulation of the lower limbs, but were not as consistently seen in the responses to upper limb stimulation. The negative peak in the response from the dorsal column nuclei to lower limb stimulation was of about the same latency as the P27 peak in the far-field response (somatosensory evoked potential) to stimulation of the peroneal nerve.

Action Potentials↗
PubMed1996

Reconstruction of the spinal accessory nerve with an anastomosis to the dorsal C3 branch: technical note.

Most lesions of the spinal accessory nerve are of traumatic origin. If the proximal part is sectioned next to its exit from the cranial base, the reconstruction might be difficult. In such a case, one option is intracranial identification of the spinal accessory nerve and transdural interposition of a graft to its distal stump. Cerebrospinal fluid leaks or infections, caudal nerve palsies, or even spinal neurological deficits are possible complications. From more than 70 patients who underwent selective peripheral denervations for the treatment of spasmodic torticollis in our department, we have learned that the dorsal C1-C6 branches can be sectioned without any functional impairment. The dorsal C2 and C3 branches have diameters comparable to that of the spinal accessory nerve. They contain between 600 and 700 myelinated fibers per square millimeter. Therefore, they seem to be ideal proximal donors for the reconstruction of a severed motor nerve. They may be used in patients with peripheral nerve injuries in the craniocervical region, if other possibilities are not suitable.

Accessory Nerve↗
PubMed1996

Primary hemangiopericytoma in the axis bone: case report and review of literature.

OBJECTIVE AND IMPORTANCE: To the best of our knowledge, this is the first reported case of primary hemangiopericytoma in the axis bone. With this report, we attempt to better characterize this uncommon lesion in the vertebral column. CLINICAL PRESENTATION: This report describes a case of primary heman-giopericytoma in the axis bone of a 16-year-old female patient who presented with acute torticollis. Her neurological status was unimpaired. A lateral radiograph of the cervical spine demonstrated an odontoid neck fracture and a C1-C2 rotatory deformity. The magnetic resonance imaging study showed a hypodense lesion with moderate enhancement on T1- and T2-weighted images on the dens and body of the axis with an odontoid neck fracture. Reviewing the literature, primary hemangiopericytoma in the spine is rare; 9 cases of hemangiopericytoma with vertebral bone involvement and 44 cases of this tumor with intraspinal meningeal involvement have been reported. INTERVENTION: The patient was treated with odontoidectomy via the transoral approach, along with posterior fixation using the Halifax clamp. She was followed up 17 months after surgery, and no evidence of tumor recurrence was found. CONCLUSION: The treatment for osseous hemangiopericytoma is still controversial. At present, adequate surgical removal with postoperative radio-therapy is recommended. In addition, although hemangiopericytoma is rare in the spine, it should be kept in mind in the differential diagnosis of spinal tumors.

Adolescent↗
PubMed2002

A man for all seasons: W.W. Keen.

William Williams Keen was the catalyst for the advent of neurosurgery in the United States. He served in the Civil War and collaborated with Silas Weir Mitchell in studying injuries sustained to the nervous system. These studies culminated in the publication in 1864 of "Gunshot Wounds and Other Injuries of the Nerves and Reflex Paralysis," which first described causalgia, reflex sympathetic dystrophy, and secondary paralysis. His most monumental accomplishment undoubtedly was being the first surgeon in the United States to successfully remove a primary brain tumor (1887) and have the patient survive for more than 30 years. As the editor of "Surgery, Its Principles and Practice," Keen invited Harvey Cushing to write the section on surgery of the head, which propelled Cushing to international recognition and provided a foothold for the new specialty of neurosurgery. Multiple sources were reviewed to prepare this comprehensive biographical account of Keen's contributions. Emphasis is placed on those achievements that furthered the discipline of neurosurgery. Although a general surgeon, Keen had a special interest in the nervous system. He treated patients with trigeminal neuralgia, performed cortical excisions for patients with epilepsy, and devised the procedure of posterior upper cervical root sections for spasmodic torticollis. He was the first surgeon to perform and advocate ventricular punctures. He served as a consultant and surgeon to both Grover Cleveland and Franklin Delano Roosevelt.

Brain Neoplasms↗
PubMed1998

Atlantoaxial subluxation after otoplasty.

A case of iatrogenic atlantoaxial subluxation after bilateral otoplasty is presented. Cineradiography was required for definitive diagnosis. Bed rest and Halter traction successfully resolved the condition. Great care is required while turning the head during skin preparation, draping, planning, and surgery, especially in young children. A high index of suspicion is necessary when a child develops torticollis after otoplasty.

Atlanto-Axial Joint↗