Gene/Protein Disease Symptom Drug Enzyme Compound
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Three cases (case 1, female, aged 30; case 2, male, aged 32; case 3, male, aged 34) of benign brainstem encephalopathy with truncal ataxia were reported. Two patients had prodromal symptoms Neurological examination revealed truncal ataxia in all cases. As additional neurological signs, anisocoria, mydriasis, nystagmus, ptosis, transient opsoclonus, and facial palsy were seen. There was neither drowsiness nor myoclonus in the three cases. On laboratory examinations, cold agglutination test revealed significant elevation in two cases. The examination of cerebrospinal fluid showed a moderate rise of proteins in one case, but did not revealed pleocytosis in any of the cases. Magnetic resonance imaging of one patient revealed an area of high intensity in the left pontine tegmentum by T2-weighed imaging. The prognosis for all these cases was good, and the reappearance of neurological signs was not present until now. Our cases were different from brainstem encephalitis (Bickerstaff's encephalitis) because of an absence of disturbed consciousness and no pleocytosis in the cerebrospinal fluid. Our cases were also different from "myoclonus-opsoclonus syndrome" because of an absence of myoclonus. We discussed a possibility of a new clinical syndrome which we call "benign brainstem encephalopathy with truncal ataxia".
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PMID:[Benign brainstem encephalopathy with truncal ataxia--a clinical study of 3 cases]. 128 89

A case report is discussed in which a clinically diagnosed case of an L4-L5 nuclear prolapse with a sequestrated fragment was verified by computerized axial tomography and magnetic resonance imaging at the initiation of the treatment period. It was treated with flexion-distraction manipulation, hot and cold fomentation, positive galvanism, a lumbosacral support, nutritional supplementation, abstinence from sitting and exercises. Four wk after initiation of treatment, the patient was asymptomatic. Eight wk after initiation of treatment, and 6 wk after the original scan, magnetic resonance imaging verified a reduction in the size of the prolapse within the vertebral canal. An 11 month follow-up examination indicated the patient had no exacerbations of her condition and all objective findings were negative.
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PMID:Conservative management of an L4-L5 left nuclear disk prolapse with a sequestrated segment. 140 16

This article has overviewed complications of rhinoplasty. Generally, these complications fall into two categories: aesthetic (that is, cosmetic sequelae that may require a revision rhinoplasty) and nonaesthetic. Of the nonaesthetic complications, infection has the widest span of severity. A localized Staphylococcus aureus abscess or Pseudomonas infection of the nose may occur postoperatively. Owing to the proximity of the nose to the cranium, a cavernous sinus thrombosis or basilar meningitis may result. Postoperative toxic-shock syndrome is a rare occurrence that surgeons should be aware of; most cases have occurred with the presence of nasal packing, but a case using only plastic nasal splints has been reported also. Bacteremia seems to be uncommon during rhinoplasty. Infection after rhinoplasty is generally much less frequent than one would expect from an operation in an unsterile field. Antibiotics are frequently utilized electively. Postoperative nasal-periorbital edema and ecchymosis are regarded as unavoidable but may be lessened significantly by postoperative head elevation and cold packs. The possibility of postoperative bleeding must be evaluated by the surgeon preoperatively. This sequela usually occurs either within 72 hours postoperatively or at around 10 days postoperatively. Many different causes exist for chronic postoperative nasal obstruction, from poorly supported nasal valves closing upon inspiration to an enhanced allergic rhinitis leading to chronic nasal mucosal edema. The latter may be treated by injection of steroid into the turbinates. Among aesthetic complications, supratip prominence, saddle deformity, and persistent hump are among the more commonly reported. Supratip prominence--"polly-beak"--can be caused by inadequate reduction of tip cartilaginous or soft-tissue elements, especially in relation to the reduction of the dorsum. An over-reduced dorsum will leave an otherwise normal nasal tip with a relative prominence. An accumulation of blood or a mucous cyst occurring under the skin of the tip will produce a prominence. Poor tip projection, tip ptosis, and alar collapse are the result of overreduction of tip elements. A dislocated alar cartilage can appear as an asymmetric nasal bossa. Saddle-nose deformity occurs after overaggressive bony and/or cartilaginous hump removal. Infractured nasal bones that subsequently drop into the piriform aperture can create a bony saddle. Persistent hump is due to inadequate reduction of a bony or cartilaginous hump. If the septal cartilage reduction is disproportionate to the bony septum reduction, the appearance of either a hump or a saddle is possible.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Postoperative sequelae and complications of rhinoplasty. 332 Aug 72

The diagnosis of myasthenia gravis (MG) can usually be made on the basis of the characteristic clinical history and signs, improvement by the use of anticholinesterase drugs, decremental responses in repetitive nerve stimulations, and assay of anti-acetylcholine receptor (AchR) antibody titers. We, however, have difficulty to make diagnosis of ocular MG patients with mild symptoms because muscular weakness is minimal and ancillary tests are negative. In the present communication, we report clinical usefulness of a hot test to provoke ptosis by warming the eyelid in ocular MG patients with minimal fatigability. Patient 1, a 27-year-old housewife, developed drooping of the right upper eyelid in May 1985. The ptosis was absent in the morning, but became apparent and worsened later. Neurological examination carried out 3 months after the onset revealed mild right ptosis, but fatigability of the levator palpebrae superioris could not be elicited by the provocative procedures such as sustained upward gaze or repeated opening and closing of eyelids. Both Tensilon and cold tests yielded negative responses. Repetitive nerve stimulations produced no decremental responses. Titers of anti-AChR antibody and antistriational antibody were within normal limits. In order to find a possible neuro-muscular blockade, we warmed the right upper eyelid by applying hot water of about 45 degrees C in a vinyl bag for 3 minutes. The hot test worsened the right ptosis and induced mild left ptosis. Tensilon administration reversed the eyelids to the previous position. Patient 2 was a 12-year-old boy with a typical history and clinical signs of ocular MG. His symptoms remitted spontaneously without any medication 3 weeks after the onset.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Diagnostic usefulness of a hot test in patients with mild ocular myasthenia gravis]. 342 58

A common symptom of myasthenia gravis is eyelid ptosis. Often, the edrophonium test is negative, particularly in ocular myasthenia gravis. Myasthenic weakness is often improved by cold. We applied ice packs to the eye in 10 myasthenic patients and 7 disease controls. Eight of 10 patients with myasthenia gravis improved, whereas none of the controls improved. The ice pack test is useful in the diagnosis of myasthenia gravis.
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PMID:Ice pack test for myasthenia gravis. 361 64

Twenty-five patients (14 males and 11 females aged 11 to 45 years) with rhythm disorders and valvular defects were operated on. Supraventricular paroxysmal tachycardia was the most common of rhythm disorders occurring in 15 cases, with Ebstein's anomaly in 11, mitral valve incompetence in 2, combined mitral defects in 1 and aortic stenosis in 1 of those. Atrial fibrillation was recorded in 7 patients, with Ebstein's anomaly in 2, mitral stenosis in 2, mitral incompetence in 2 and mitral prolapse in 1 of those. Nodal tachycardia was found in 1 patients with Ebstein's anomaly and in 1 patient with mitral valve incompetence. Left-ventricular tachycardia was diagnosed in a female patient with mitral prolapse. The operations were simultaneous and comprised two steps; they were performed under extracorporeal circulation and drug- and cold-induced cardioplegia, with the elimination (surgical interruption) of accessory conduction pathways or removal of arrhythmogenic areas as the first step, and reconstructive surgery on heart valves as the second step.
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PMID:[Surgical treatment of rhythm disorders with simultaneous correction of heart valve defects]. 371 46

A case of transient ptosis due to GPC in a 14-year-old white female was presented. The hydrogel contact lenses were removed and after 3 days of cold compress management, the ptosis disappeared. After two months of spectacle wear the patient was refitted with hydrogel lenses made from a different material in a different design. In addition the solution regimen was changed to non-preserved saline and thermal disinfection. A review of the GPC literature and pathophysiological mechanism were presented.
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PMID:Transient ptosis secondary to giant papillary conjunctivitis in a hydrogel lens patient. 664 95

We here report a case of Miller Fisher syndrome (MFS) in which serum anti-cerebellar antibody was detected by Western blot analysis. The 32-year-old male studied suffered from diplopia, gait ataxia and sensory disturbance in the distal portion of the upper limbs preceded by cold-like symptoms. Neurological examination on admission revealed that he had external ophthalmoplegia with bilateral ptosis, cerebellar ataxia and areflexia. A cerebrospinal fluid examination showed albuminocytologic dissociation with a protein concentration of 60 mg/dl. Brain CT and MRI showed no significant abnormalities. The patient was diagnosed as MFS, and treated it with two sessions of immunoadsorption plasmapheresis (IAPP). After receiving IAPP therapy, the patient's neurological symptoms and signs were improved. Western blot analysis showed the existence of antibody directed against mouse cerebellum but not against mouse cerebrum, brain stem, and spinal cord in his serum, the level of which was decreased after the IAPP therapy. Serum anti-GQ1b antibody was also elevated. As far as we are aware, there have been no reports showing the existence of anti-cerebellar antibodies detected by Western blot analysis. Though the pathogenesis of MFS remains unclear, our findings suggest that anti-cerebellar antibody detected by Western blot analysis may be caused by cerebellar ataxia in MFS.
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PMID:[The detection of anti-cerebellar antibody western blot analysis in serum from a patient with Miller Fisher syndrome]. 853 14

We report a family with three generations affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or cold muscle spasms may appear. The gene is expressed with differing intensity in each individual. Myopathic electromyographic alterations are only found in functionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers.
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PMID:[Late centronuclear myopathy: autosomal dominant form]. 921 90

The ice pack test may be helpful in establishing that ptosis is due to ocular myasthenia gravis, since cold improves neuromuscular transmission. However, the role of the test in determining whether diplopia is of myasthenic origin has yet to be established.
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PMID:Can myasthenia gravis be diagnosed with the 'ice pack test'? A cautionary note. 1068 28


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