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1/343. Progressive ponto-bulbar palsy with deafness. A clinico-pathological study.

    Progressive ponto-bulbar palsy with deafness is a rare disease. It seems to be an abiotrophic process with autosomal recessive inheritance in most instances. Only one autopsy case had been briefly described (Lelong et al., 1941). The clinical features and the pathological findings of a new case are reported. The structures primarily involved are the grey matter of the brain stem and the spinal cord, including to some extent the optic tracts and most of the fiber tracts in the brain stem with exception of the pyramidal tracts.
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keywords = palsy
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2/343. kearns-sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial dna deletion.

    kearns-sayre syndrome (KSS) and Pearson's marrow-pancreas syndrome (PMPS) are rare disorders caused by the same molecular defect, one of several deletion mutations in mitochondrial dna (mtDNA). KSS is an encephalomyopathy with ophthalmoplegia, retinal degeneration, ataxia, and endocrine abnormalities. PMPS is a disorder of childhood characterized by refractory anemia, vacuolization of bone marrow cells, and exocrine pancreas dysfunction. Children with PMPS that have a mild phenotype, or are supported through bone marrow failure, often develop the encephalomyopathic features of KSS. The subject of numerous reports in the neuromuscular, genetic, and pediatric literature in recent years, very few cases of either disorder have ever been studied at autopsy. We report the results of our studies of a patient with clinically documented KSS who presented with renal dysfunction and was found to have a novel mtDNA deletion and degenerative changes in the central nervous system, retina, skeletal muscle, and pancreas.
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ranking = 45.575931784069
keywords = ophthalmoplegia
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3/343. Marin-Amat syndrome: case report and review of the literature.

    We report a 10-year-old girl with Marin-Amat syndrome, a rare facial synkinesis sometimes referred to as the inverted Marcus Gunn phenomenon. Symptoms were apparent 6 months following unilateral peripheral facial nerve palsy. Her facial synkinesis failed to improve, despite improvement in her facial palsy consistent with an aberrant regeneration of the facial nerve. The clinical Several neurologic syndromes feature abnormal interactions, or synkinesis, between anatomically proximate muscle groups. Among these, the Marcus Gunn phenomenon (trigemino-oculomotor synkinesis) is one of the best described in children. The Marcus Gunn phenomenon, or 'jaw-winking phenomenon,' consists of unilateral congenital ptosis and retraction of the ptotic lid upon moving of the lower jaw. Although many adults have been reported with this synkinesis, it is usually most prominent in newborn infants, in whom rapid spasmodic movements of the lid are seen during periods of nursing. In general, the Marcus Gunn phenomenon is unilateral and sporadic although familial and bilateral cases have been reported. Marin-Amat syndrome (or 'inverse Marcus Gunn phenomenon') is a rarely reported synkinesis in which one eyelid closes upon full opening of the jaw or movement of the jaw laterally. We now report a 10-year-old patient who began to develop features of Marin-Amat syndrome involving the right eyelid 1 month following right facial nerve palsy. This is the first documented report of this syndrome in a child.
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keywords = palsy
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4/343. Moebius syndrome: the new finding of hypertrophy of the coronoid process.

    The first detailed description of congenital facial paralysis was reported by Moebius in 1888. It is characterized by either unilateral or bilateral paralysis of the facial muscles and an associated abducens palsy. The present report is of two patients with Moebius syndrome, who were also diagnosed with trismus at birth. Each patient also demonstrated bilateral hypertrophy of the coronoid process of the mandible. In effect, the zygoma obstructed the excursion of the mandible because of a "coronoid block." A three-dimensional computed tomography scan demonstrated normal temporomandibular joints but bilateral hypertrophy of the coronoid processes and micrognathia. Both patients demonstrated less than 10 mm of oral excursion. Bilateral coronoidectomies were performed through an intraoral approach. The oral excursions after surgery increased to at least 20 mm. In each of these patients, the coronoid process was enlarged relative to the zygoma, which was of normal size and configuration. The trismus was associated with blocking of the coronoid by the anterior zygoma, preventing open or full excursion of the hypoplastic mandibles. Moebius syndrome can have a variable presentation at birth. In two patients, the authors describe a new finding of hypertrophy of the coronoid process and trismus secondary to obstruction of the coronoid by the hypertrophic zygomas during oral excursions. Each patient is described, and a review of the literature is discussed.
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keywords = palsy
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5/343. Uncommon causes of anterior knee pain: a case report of infrapatellar contracture syndrome.

    The uncommon causes of anterior knee pain should always be considered in the differential diagnosis of a painful knee when treatment of common origins become ineffective. A case is presented in which the revised diagnosis of infrapatellar contracture syndrome was made after noting delayed progress in the rehabilitation of an active female patient with a presumed anterior horn medial meniscus tear and a contracted patellar tendon. The patient improved after the treatment program was augmented with closed manipulation under arthroscopy and infrapatellar injection of both corticosteroids and a local anesthetic. Infrapatellar contraction syndrome and other uncommon sources of anterior knee pain, including arthrofibrosis, Hoffa's syndrome, tibial collateral ligament bursitis, saphenous nerve palsy, isolated ganglions of the anterior cruciate ligament, slipped capital femoral epiphysis, and knee tumors, are subsequently discussed. Delayed functional advancement in a rehabilitation program requires full reassessment of the patient's diagnosis and treatment plan. Alternative diagnoses of knee pain are not always of common origins. Ample knowledge of uncommon causes of anterior knee pain is necessary to form a full differential diagnosis in patients with challenging presentations.
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keywords = palsy
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6/343. cochlear implantation for symptomatic hereditary deafness.

    Recently, the effectiveness of cochlear implantation for hereditary deafness has been reported. We performed cochlear implantation for two patients with symptomatic hereditary deafness. deafness in one patient was thought to be a result of albinism-deafness syndrome and in the other patient, a result of chronic progressive external ophthalmoplegia syndrome. Since their speech perception abilities improved dramatically, we believe that cochlear implantation should be actively performed for these two syndromes.
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ranking = 45.575931784069
keywords = ophthalmoplegia
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7/343. Nonconvulsive status epilepticus in a child with congenital bilateral perisylvian syndrome.

    A 9-year-old male with congenital bilateral perisylvian syndrome is described. He had pseudobulbar palsy, mental retardation, and intractable epilepsy. Computed tomography and magnetic resonance images of the brain demonstrated bilateral perisylvian malformations and a diffuse pachygyric appearance. At 8 years of age, he had episodes of excessive drooling, fluctuating impairment of consciousness, unsteady sitting, and frequent head drop that lasted several days. The electroencephalogram demonstrated continuous diffuse slow spike and waves. These findings suggested atypical absence status epilepticus. Intravenous administration of diazepam resulted in transient improvement of clinical and electroencephalographic findings. status epilepticus recurred within several minutes after diazepam administration. Although no patient has been reported to have a history of status epilepticus among those affected by this syndrome, it seems that atypical absence status can occur more frequently than expected, as seen in Lennox-Gastaut syndrome. After recognition and confirmation of nonconvulsive status epilepticus, immediate treatment must be attempted.
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ranking = 0.2
keywords = palsy
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8/343. Management of abducens palsy in patients with petrositis.

    Our objective was to discuss the management and outcome of abducens nerve palsy in patients with Gradenigo's syndrome. In a retrospective analysis of patients with Gradenigo's syndrome at a tertiary-care center in Houston, texas, from 1987 to 1995, we identified 2 patients with Gradenigo's syndrome, both female. One had bilateral involvement, so that the total was 3 ears. Both patients had complete recovery of their abducens nerve palsy. In 2 ears with chronic mastoiditis, sixth nerve palsies failed to respond to medical therapy alone, but resolved after mastoidectomy with drainage of the petrous apex. We recommend that patients with Gradenigo's syndrome and evidence of chronic mastoiditis be treated with aggressive medical and surgical care.
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ranking = 1.2
keywords = palsy
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9/343. Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome.

    Foix-Chavany-Marie syndrome (FCMS) is a distinct clinical picture of suprabulbar (pseudobulbar) palsy due to bilateral anterior opercular lesions. Symptoms include anarthria/severe dysarthria and loss of voluntary muscular functions of the face and tongue, and problems with mastication and swallowing with preservation of reflex and autonomic functions. FCMS may be congenital or acquired as well as persistent or intermittent. The aetiology is heterogeneous; vascular events in adulthood, nearly exclusively affecting adults who experience multiple subsequent strokes; CNS infections; bilateral dysgenesis of the perisylvian region; and epileptic disorders. Of the six cases reported here, three children had FCMS as the result of meningoencephalitis, two children had FCMS due to a congenital bilateral perisylvian syndrome, and one child had intermittent FCMS due to an atypical benign partial epilepsy with partial status epilepticus. The congenital dysgenetic type of FCMS and its functional epileptogenic variant share clinical and EEG features suggesting a common pathogenesis. Consequently, an increased vulnerability of the perisylvian region to adverse events in utero is discussed. In honour of Worster-Drought, who described the clinical entity in children 40 years ago, the term Worster-Drought syndrome is proposed for this unique disorder in children.
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ranking = 0.2
keywords = palsy
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10/343. Jefferson fracture resulting in Collet-Sicard syndrome.

    STUDY DESIGN: A case report and review of the literature. OBJECTIVE: To increase awareness of and add to the spectrum of injury that can result from Jefferson fractures, to suggest a possible mechanism of injury, and to give a brief review of pertinent facts regarding C1 burst fractures and the Collet-Sicard Syndrome. SUMMARY OF BACKGROUND DATA: To the author's knowledge, this is the first reported case of a Jefferson fracture resulting in Collet-Sicard Syndrome. It represents only the second reported case of cranial nerve palsy caused by Jefferson fracture. methods: A 56-year-old man sustained a C1 burst fracture in a rollover motor vehicle accident. Repeated neurologic examinations over the ensuing days revealed lesions of cranial nerves IX, X, XI, and XII on the left side. RESULTS: Two weeks of traction, 10 weeks in a halo vest, and 2 weeks in a cervical collar resulted in adequate fracture healing and almost complete resolution of the patient's neurologic symptoms. CONCLUSION: Although this is the first reported case of Collet-Sicard Syndrome caused by Jefferson fracture, the authors' review of the literature suggests that cranial nerve injuries may go unrecognized in some patients with C1 burst fractures. The importance of a thorough neurologic examination, including examination of the cranial nerves, in all cases of cervical spine injury cannot be overemphasized.
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keywords = palsy
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