1/112. Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient.A white Italian boy, aged 5 years and 8 months, is reported with failure to thrive, hypotonia, truncal ataxia, psychomotor retardation, and congenital horizontal pendular nystagmus with only waves I and II on auditory brainstem responses. Our patient's clinical picture resembles that previously reported in 10 male Oriental patients. He did not manifest spastic diplegia by the age of 2 years, as did the subjects reported in the literature, but knee-jerk hyperreflexia was evident at the most recent clinical reevaluation. Serial brain MRI studies revealed a cystic brain lesion and peritrigonal hyperintensities with no brainstem abnormalities. To date, no other child with a similar syndrome has been described either in europe or in America. The clinical features of this condition are consistent and characteristic. A definitive diagnosis is achieved by demonstrating the absence of all waves following wave I or wave II on auditory brainstem responses as early as 3 months of age. Due to the predominance of males, the occurrence in siblings, the early age at onset, the non-progressive course, and the characteristic auditory brainstem response findings, the syndrome may have a genetic origin and be attributable to a dysgenetic brainstem lesion.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
2/112. A patient with cerebral palsy whose mother had a traffic accident during pregnancy: a diffuse axonal injury?A 16-year-old girl had spastic cerebral palsy (CP) with triplegia and focal epilepsy. The patient's past history included her mother's lower abdominal trauma caused by a traffic accident at the 7th month of gestation. brain examination with magnetic resonance imaging (MRI) revealed encephalomalacia at the bilateral parieto-temporal lobes and the left caudate nucleus, segmental narrowing of the splenium of the corpus callosum, dilatation of the left lateral ventricle and an abnormally high intensity at the right posterior portion of the internal capsule. These findings might indicate a diffuse axonal injury (DAI), but not an asphyxic brain damage. In this patient, CP might be caused by an intrauterine DAI when her mother was involved in the accident.- - - - - - - - - - ranking = 3.0943849458951keywords = epilepsy (Clic here for more details about this article) |
3/112. The Innsbruck Sensorimotor Activator and Regulator (ISMAR): construction of an intraoral appliance to facilitate ingestive functions.Oral sensorimotor therapy is practiced widely with children who have neuromotor impairments, such as cerebral palsy and eating problems. Although improvement in ingestive skills can be achieved in the short term (5 months), long-term effects (over 12 months) remain to be examined. Interventions with intraoral appliances are used in children with moderate impairments of the oral-motor system and offer an opportunity for long-term treatment. Instead of the daily oral sensorimotor exercises, which must be provided by a qualified therapist, the intraoral appliance is worn during the night, so that the "therapy" is initiated and controlled by the child. The purpose of this paper is to describe the appliance: its prescription, fabrication and therapeutic use. A case study illustrates that improvement in ingestive skills, efficiency of eating, and marked weight gain can be achieved.- - - - - - - - - - ranking = 8keywords = motor (Clic here for more details about this article) |
4/112. cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.Pyruvate dehydrogenase (PDH) complex deficiency, a common cause of congenital lactic acidosis, is mostly due to mutations in the X-linked gene coding for the E1alpha subunit of the complex. We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency. PDH deficiency was diagnosed in adolescence and both girls had low PDH complex activity in muscle but normal amounts of all subunits on Western blotting, and a normal lactate/pyruvate ratio in blood and CSF. mutation analysis of the E1alpha gene at the cDNA or dna level revealed an arginine to histidine substitution at amino acid position 288 (R288H) in the girl with hypocalcaemia and a 12 bp insertion, predicting a four amino acid duplication at the c-terminal end of the protein in the second girl. They both carried a normal and a mutated E1alpha gene and X-inactivation studies showed skewed patterns. CONCLUSION: mutation identification in pyruvate dehydrogenase complex deficiency remains important especially for the determination of the recurrence risk and for reliable genetic counselling in couples with an affected child.- - - - - - - - - - ranking = 1.3153910752286keywords = seizure (Clic here for more details about this article) |
5/112. Motor benefit from levodopa in spastic quadriplegic cerebral palsy.We report on a 16-year-old girl with spastic quadriplegic cerebral palsy associated with premature birth and typical periventricular leukomalacia, who had a dramatic improvement in motor function after treatment with carbidopa/levodopa. Kinematic and electromyographic analyses of reaching movements demonstrate that levodopa decreased muscle co-contraction, decreased unwanted movements, and improved her ability to maintain a steady arm posture. These findings suggest that levodopa be considered as an adjunct therapy for the treatment of spastic quadriplegic cerebral palsy.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
6/112. Violent recurrent ballism associated with infections in two children with static encephalopathy.A variety of cerebral insults can result in static encephalopathy with developmental delays and relatively fixed motor and cognitive deficits. We describe two boys with static encephalopathy who experienced recurrent episodes of generalized, violent ballism seemingly provoked by relatively minor infectious illnesses or surgical procedures. These episodes first began at ages 14 and 9 years, respectively. The baseline clinical states included relatively mild choreoathetosis plus cognitive impairment, as well as spasticity and/or ataxia. These episodes of ballism developed over hours, remained for weeks, and ultimately returned to baseline. Neuroleptics, anticonvulsants, and benzodiazepines were only partially beneficial; responses corresponded to the degree of sedation. Potential for self-injury or rhabdomyolysis/myoglobinuria led to the use of general anesthetics or neuromuscular blocking agents during selected episodes. blood, urine, and cerebrospinal fluid studies, magnetic resonance imaging head scans, and electroencephalography revealed no diagnostic clues as to the precise causative factor precipitating these episodes.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
7/112. Reorganization of the motor cortex in a patient with congenital hemiparesis and mirror movements.Abnormal branching of corticospinal fibers from the unaffected motor cortex is responsible for mirror movements in patients with congenital hemiparesis, but it is unknown which mechanisms enable these patients to lateralize motor activity. Using multiunit electromyographic analysis and transcranial magnetic stimulation, the authors provide evidence for nonbranched crossed and uncrossed corticospinal projections and intracortical inhibition of the mirror hand. They propose that this remarkable reorganization of the unaffected motor cortex helps these patients to reduce mirror movements.- - - - - - - - - - ranking = 7keywords = motor (Clic here for more details about this article) |
8/112. Repetitive sleep starts in neurologically impaired children: an unusual non-epileptic manifestation in otherwise epileptic subjects.sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usually single, brief body jerks that coincide with sleep onset. We describe sleep starts occurring repetitively in three epileptic children with spastic-dystonic diplegia and mental retardation. Repetitive sleep starts began at age 18 months in two children and at 9 months in the third. All three children had had feto-neonatal asphyxia; two presented with spastic and one with dystonic tetraparesis. One had West syndrome and two had partial motor seizures in the first year of life. seizures were controlled in all three patients by antiepileptic drug therapy. Video/EEG recordings of all the children during the afternoon nap revealed clusters of sleep starts during the transition between wakefulness and sleep. Cluster lasted 4-15 min and comprised from twenty to twenty-nine contractions. The EEG counterpart of the event sometimes showed an arousal response, at times inducing complete awakening. Repetitive sleep starts should be recognized and clearly differentiated from epileptic seizures, especially if they appear in epileptic subjects. In neurologically compromised patients, they could represent an intensification of an otherwise normal event, due to the lack of strong inhibitory influence of the pyramidal tract resulting from the pyramidal lesion.- - - - - - - - - - ranking = 3.6307821504571keywords = seizure, motor (Clic here for more details about this article) |
9/112. Motor control testing of upper limb function after botulinum toxin injection: a case study.OBJECTIVE: To evaluate changes in upper extremity function in a hemiparetic patient after treatment with botulinum toxin (BTX) using motor-control testing (MCT) techniques. DESIGN: Interventional with longitudinal study, open label. SETTING: A children's hospital and a motor-control laboratory at a major academic center. PARTICIPANTS: A 16-year-old male with right hemiparetic cerebral palsy and a healthy 12-year-old control subject. INTERVENTIONS: BTX injections to the elbow and wrist flexors. MAIN OUTCOME MEASURES: MCT was used to examine 4 upper extremity movements: forward reach, bilateral rhythmic movements (both muscle homologous and direction homologous), isometric pinch, and hand tapping. The patient was tested before treatment and at 2, 4, 6, 12, 18, and 24 weeks after treatment. In addition, range of motion (ROM), the Ashworth scale of spasticity, Functional Independence Measure, and the mobility and activities of daily living (ADL) sections of the Pediatric Evaluation of the Disability Inventory were performed. RESULTS: Forward reach demonstrated little change initially despite patient reports of "feeling looser." Improvement was noted after 18 weeks, but returned to baseline level at 24 weeks. Bilateral rhythmic movements also showed slight improvement at 18 weeks. Pinch force increased significantly after 2 weeks, but declined again at 6 weeks. Improvements occurred in ROM and the Ashworth rating of spasticity, but were not temporally associated with each other or with MCT results. Functional assessment data did not change during the study period. CONCLUSIONS: Improvements in more complex motor tasks were noted after significant delay from the time of treatment, while simpler tasks demonstrated a more rapid improvement, followed by a rapid return to baseline levels. This case suggests that MCT techniques can provide quantitative and qualitative data, which can add new information about upper extremity motor disability and the outcome of treatment.- - - - - - - - - - ranking = 4.0135609532785keywords = motor, major (Clic here for more details about this article) |
10/112. Improvement of sleep apnea in a patient with cerebral palsy.Intrathecal baclofen (ITB) can reduce spasticity in adults and children with cerebral palsy. Benefits of ITB therapy include improved Ashworth scores, activities of daily living, and mobility. The impact of ITB therapy on sleep apnea in patients with cerebral palsy has not been reported. This case report describes a 29-yr-old female with mixed spastic athetoid quadriparetic cerebral palsy with dystonia, gross motor function IV, who had sleep apnea, requiring nightly continuous positive airway pressure. She received ITB with the goal to improve her wheelchair positioning and decrease her excessive movements. After the initiation of the ITB, reduction of her spasticity and dystonia was noted, as well as improvement of her sleep apnea. This case suggests that ITB therapy may improve respiratory function through reduction of respiratory muscle spasticity.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
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