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Myasthenia gravis is a neuromuscular disease of insidious onset, characterized by weakness and fatigability of voluntary muscles. Most patients present with symptoms relating to the head and neck and thus may be seen first by the otolaryngologist. Predominant symptoms may be ocular (ptosis or diplopia) or related to fatigue of the oropharyngeal or laryngeal musculature (dysarthria, dysphonia, or dysphagia). Alleviation of muscular weakness and fatigability after administration of anticholinesterase drugs is pathognomonic of myasthenia gravis.
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PMID:The otolaryngologic presentation of myasthenia gravis. 44 37

A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum beta-lipoproteins and HDL apoproteins. These features are similar to those found in typical Friedreich's ataxia.
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PMID:Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 64 99

A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.
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PMID:Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. 170 Jul 20

In late September 1986, we found 7 patients from a printing factory in Chang-Hwa city who developed an endemic disease manifested by general malaise, ptosis, double vision, dysarthria, dysphagia, and proximal limb weakness. After clinical, epidemiological, microbiological, and toxicological investigations, an outbreak of botulism was confirmed 2 weeks later, Commercially canned peanuts made by an unlicensed cannery were identified as the vehicle of botulinum toxin transmission. Antitoxin was given to 2 patients who needed ventilator support. One of the 7 victims died from medical complications and the remaining 6 patients recovered. Several administrative problems exposed in this outbreak were the poor governmental supervision of canned food, the inadequate quantities of "orphan drugs" stored in this country, the inefficient system for recalling the problem products, and the delayed broadcasting of warnings to the public. Since commercially processed food is increasingly popular with modernization, the possibility of future botulism outbreaks should not be overlooked.
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PMID:Outbreak of type A botulism caused by a commercial food product in Taiwan: clinical and epidemiological investigations. 217 23

This is the first report of unilateral palatal myoclonus with which two different ocular movements were synchronized. A 55-year-old woman was admitted to our hospital due to intubation and dysarthria of sudden onset after three similar attacks for these four years. On admission right ptosis, hypalgesia in the right face, right facial nerve palsy, dysarthria, bilaterally increased deep tendon reflexes and trunkal ataxia were noted. Continuous repetitive contractions at 110/min frequencies were observed in the left soft palate, pharynx and larynx. On electronystagmography and electro-magnetic search coil system (Skala system), two different ocular movements, i.e., rotary oscillation with torsion and nystagmus to the right, successively alternated each other at random during eyelids closure. They were synchronized with palatal myoclonus. True nystagmus synchronized with palatal myoclonus has not been reported. When she calculated, rotary oscillation disappeared. In sleep polygraphy, rotary oscillation reduced in amplitude in stage 1 and disappeared in stages 2, 3, 4 and REM. On the other hand, the nystagmus reduced in amplitude in stage 1 and 2 and disappeared in stages 3, 4 and REM. The direction of nystagmus was converted to the left in stages 1 and 2. Similarly, in a drowsy state induced by intravenous injection of 7 mg diazepam, the direction of the nystagmus was converted to the left. On brain magnetic resonance imaging (MRI) right inferior olive was identified as a well circumscribed, enlarged increased signal area on T2-weighted and proton density-weighted images in addition to the lesions of infarcts in left corona radiata, posterior limb of right internal capsule and tegmentum pontis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Unilateral palatal myoclonus with peculiar ocular movements--neurotological studies and MRI]. 275 41

The patient, a man aged 57, was admitted to our clinic on May 1, 1987, because of severe vertigo and unsteadiness in standing. Since the age of 55 he had been suffered from hypertension and atrial fibrillation. In September, 1986, he experienced vertigo but recovered soon without therapy. On April 25, 1987, while working, he noticed severe vertigo, nausea and vomiting. He was admitted to a hospital, and then transferred to our clinic. On admission, he was alert and the mentality was normal. Slight ptosis abducent nerve paresis, hypalgesia on the forehead, nose and cheek, facial paresis of peripheral type and hypacusis were detected on the left side. No anisocoria was observed. Sweating was impaired over the left side of the face. Elevation of the soft palate was limited on the left side and the tongue deviated to the left on protrusion. Dysarthria was detected. Though there was no muscular weakness in the extremities, incoordination and dysmetria were noted in the left arm and leg. He could not stand up because of vertigo and unsteadiness. There was no sensory disturbance in the trunk and extremities. Deep tendon reflexes were well elicited and no pathological reflex was observed. These clinical manifestations, except for the ipsilateral palatal and lingual disturbances, were typical of the lateral inferior pontine syndrome caused by occlusion of anterior inferior cerebellar artery, and the lesion was clearly demonstrated by horizontal and coronal MRI. The palatal and lingual disturbances might be due to the involvements of the corticobulbar tracts of the 10th and 12th nerves after the fibers had decussated.
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PMID:[Lateral inferior pontine syndrome: a case report]. 280 19

The involvement of the central nervous system in acute leukemia was studied in 15 adult patient. 60% of the patients were up to 35 years of age and 12 of them (80%) were with acute lymphoblastic leukemia. In 12 of the patients the nervous system was affected in the acute course of the disease, in one female patients--in the course of induction treatment and in the remaining patients--after the induction treatment. The manifestations of neuroleukemia are predominantly meningoradicular irritation with headache--in 86.7% of the patients, diplopia, papilledema, dysarthria and palpebral ptosis with affection of the cranial nerves (III, IV, V, VI, VII, VIII, IX, XII). In 12 patients (87.5%) blast cells were found in the cerebrospinal fluid in numbers ranging from 70 up to 36,000/mm3. In 26.7% of the patients other extramedullary localizations of leukemia were found parallelly (testes, thyroid gland hypopharynx, muscles). The application of methotrexate intrathecally and radiation therapy of the cranium led to a remission in 43% of the patients. Favourable results with considerably prolonged survival can be achieved also in patients with many recurrences of the disease. The need of neuroleukemia prophylaxis is proved (it is obligatory for the patients with acute lymphatic leukemia and with some forms of acute myeloblastic leukemia).
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PMID:[Extramedullary localization of acute leukemia. I. The involvement of the central nervous system]. 316 77

Two brothers and their sister aged 8, 13, and 7 years were found to have unusual facies (gross, rough and abundant hair, wide forehead, mild palpebral ptosis, small nose, anteverted nostrils, thick lips, and down-slanting corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, feet deformities, and limb and gait ataxia. The characteristic clinical picture in the three sibs, once compared with other ataxic syndromes, allowed one to conclude that this could correspond to a distinct entity probably inherited as an autosomal recessive disorder.
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PMID:A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance. 398 16

A 17 year old high school boy experienced fever and diarrhea, which subsided within 4 days by appropriate medications. Six days later, however, he developed unsteadiness and limb spasm. On the morning of admission, he was found to have drowsiness, dysarthria, gait disturbance and involuntary jerks. When he was brought to the hospital, he was lethargic but could follow simple verbal commands. Frequent involuntary movements manifested by facial grimacings, limb spasms and twitchings with dystonic features were seen. Decorticate posturing was readily elicited by painful stimuli. There was no meningeal irritation sign or gross sensory impairment. The deep tendon reflexes were symmetrically exaggerated with bilateral Babinski signs. Bilateral lateral rectus muscle weakness was found together with mild ptosis and upward gaze limitation. Nystagmus was not present and the funduscopic examination was normal. Immediately he was placed on anticonvulsants, steroid hormone, gamma-globulin and antibiotics as well. A brain CT scan and a CSF examination revealed no abnormality. Meanwhile he continued to show a progressive deterioration associated with fever and status epilepticus, and within 24 hours he lapsed into coma in decorticate posture. An EEG obtained at the 3rd hospital day was compatible with spindle coma. In spite of aggressive treatment he remained febrile and comatous. Therefore, vidarabine (adenine arabinoside) was initiated from the 3rd hospital day for 5 days. Then he began to groan and show frequent choreic movements. For the subsequent 2 weeks he made a slow recovery.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of brain stem encephalitis with complete recovery (Bickerstaff's encephalitis)]. 620 73

It is well recognized that food contamination can result in botulism either from ingestion of performed toxin, in classical botulism, or through absorption of toxin from bacteria within the gut, in infant botulism. Botulism due to contamination of wounds with Clostridium botulinum is not commonly recognized. We report a case of wound botulism occurring in an eight-year-old boy, characterized by early ptosis, dysphagia and dysarthria and then followed by progressive generalized paralysis and fixed dilated pupils, but with intact sensorium. Management consisted of early wound debridement and prolonged intensive respiratory and nutritional support. Recovery was complete.
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PMID:Wound botulism. 742 26


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