Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 24-year-old pregnant woman started to have hyperemesis gravidarum 6 weeks before admission. Four weeks later she had vertigo, diplopia, staggering gait, mild dyspnea, dysphagia, and incontinence of urine. On admission she presented with ophthalmoplegia, ptosis, ataxia, decreased tendon reflex, and memory disturbance. Brain magnetic resonance imaging revealed abnormal intensities in medial thalamic-hypothalamic regions and the periaqueductal area, and she was diagnosed with Wernicke's encephalopathy. Urodynamic studies revealed decreased bladder volume and detrusor hyperreflexia. Six weeks after the administration of 100 mg/day of thiamine, urge incontinence gradually recovered, together with neurological signs. Lesions of the medial thalamic-hypothalamic area and the periaqueductal gray matter seemed to be mainly responsible for micturitional disturbance in our patient with Wernicke's encephalopathy.
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PMID:Micturitional disturbance in Wernicke's encephalopathy. 904 73

Liver transplantation (LTX) is an approved method to treat patients with end-stage liver cirrhosis and acute liver failure due to Wilson's disease. Initially, there was some consideration about the indication for LTX in the case of Wilson's disease with severe neurological impairment but normal liver function. From 1988 until 1995, 13 out of 700 LTX (1.9%) were performed for Wilson's disease. Indications for LTX were (I) intractable neurological impairment with normal liver function (n = 4; including one patient with Child A cirrhosis), (II) fulminant hepatic failure (n = 3), and (III) end-stage liver cirrhosis (n = 6) (Child B, n = 1; Child C, n = 5). There were 8 females and 5 males with a mean age of 27 yr (range 15-34 yr). All patients of group I required continuous nursing care before LTX, in spite of pretreatment with d-penicillamine and zinc. The most frequent symptoms in these patients were dysphagia (n = 4), dysarthria (n = 4), tremor (n = 4), sialorrhea (n = 3), ataxia (n = 3), dystonia (n = 3) and handwriting difficulties (n = 3). All patients of group II presented with hemolytic anemia. The survival rate was 100%, and all patients were doing well after a mean follow-up period of 32.8 months (range 8-68 months). The postoperative course was without severe infectious and other complications. All patients of group I revealed the first signs of improvement for all types of neurological symptoms 4-6 wk after LTX. One patient has been without any symptoms from 18 months until 5.5 yr after LTX. Two patients with short-term follow-up also had noticeable improvement of neurological impairment, but residual symptoms are still present. One patient showed only slight improvement. We conclude that Wilson's disease may be a good indication for LTX for both neurological manifestation with stable liver function and hepatic manifestation with cirrhosis or acute liver failure.
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PMID:Liver transplantation: treatment of choice for hepatic and neurological manifestation of Wilson's disease. 919 46

A 55-years-old woman had left neck pain and headache, dizziness, left Horner's sign, left abducens palsy, diplopia, left peripheral facial palsy, left loss of hearing, left tinnitus, left paralysis of vocal cord and soft palate, dysphagia, left limb ataxia, truncal ataxia, disturbance of temperature and pain sensation over Th10 on the right involving the right face. Left vertebral angiography revealed tapering occlusion of the left vertebral artery. Right vertebral angiography showed normal angiogram of the basilar artery and bilateral anterior inferior cerebellar arteries. MRI disclosed infarcts in the left lateral inferior pons, left lateral medulla, and cerebellum of territories in the anterior inferior cerebellar artery and posterior inferior cerebellar artery. T2 weighted image showed septum (intimal flap) in the left vertebral artery. This is the very rare case of lateral inferior pontine syndrome and lateral medullary syndrome due to the vertebral artery dissection.
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PMID:[A case of vertebral artery dissection with lateral inferior pontine syndrome and lateral medullary syndrome]. 921 27

We report a case of large cystic acoustic neurinoma. A 52-year-old male was admitted to hospital with a history of progressive dysphagia, gait disturbance and diplopia for 2 months. On admission, neurological examinations revealed Bruns' type nystagmus to the left side, hypesthesia in the distribution of the second and third divisions of the left trigeminal nerve, and partial paresis of cranial nerves IX, X, and XII on the left side, and truncal ataxia. A pure-tone threshold audiogram indicated the presence of 32 dB hearing loss in the left ear. Speech discrimination was 80%. Caloric vestibular responses were absent on the left side. Skull radiographs with polytomographs of the internal auditory canal (IAC) were normal. Bony changes in the IAC were not found by high-resolution bone-window computed tomography (CT) scan. A plain CT scan revealed a large low-attenuated cystic mass in the left cerebellopontine angle (CPA), which was associated with displacement of the fourth ventricle. An enhanced CT scan demonstrated a thin rim-enhancement in the cyst wall. Magnetic resonance imaging (MRI) scans disclosed a large rim-enhanced cystic mass extending superiorly into the tentorial incisura and inferiorly into the foramen magnum. At surgery via a left suboccipital approach, a large cystic mass was found at the left CPA arising from the VIIIth nerve, and compressing the Vth, VIth, VIIth and lower cranial nerves. The cyst was filled with a xanthochromic fluid and was firmly attached to the internal auditory meatus (IAM). However no tumor extension into the IAM was confirmed. The tumor was excised completely. The postoperative course was uneventful, except for impairment of the VIIth and VIIIth nerves. At 6 months after the first operation, the facial nerve had improved up to grade III (Hause-Brackmann stage). Histological examinations revealed a typical benign acoustic neurinoma with predominant representation of Antoni B tissues. The cyst wall contained numerous abnormal sinusoid and telangiectasia-like vessels which showed occasional thromboses. The vessel walls displayed endothelial proliferations and were frequently hyalinized. Hemosiderin deposits and hemosiderin-containing phagocytes were also found near these vessels. Myxoid degeneration and necrosis were evident in vast areas. These degenerative changes appeared to be the principal causes of the large cystic formation. 16 cases including our case have been reported. The broad characteristics of the clinical symptoms and radiological findings of these tumors are discussed.
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PMID:[Large cystic neurinoma: a case report]. 921 60

We report a 65-year-old woman with paraneoplastic cerebellar degeneration (PCD) who showed reduced cerebellar metabolism with preserved blood flow. She was admitted to Gunma University Hospital because of progressive gait and speech disturbances. Neurologic examination revealed nystagmus, dysphagia, explosive speech, reduced muscle tone in limbs, and marked truncal and limb ataxia, and mild hypesthesia in hands and feet. Cranial MRI demonstrated slight cerebellar atrophy. Laboratory findings disclosed high levels of serum CA19-9 and other tumor markers, and positive anti-Yo antibody, indicating that she had PCD. A specimen obtained from an axillary lymph node revealed metastasis of poorly differentiated adenocarcinoma, although systemic and vigorous checkup failed to find its origin. Cerebral blood flow (CBF) and cerebral metabolic rate of oxygen (CMRO2) were measured using positron emission tomography (PET) 15 months after the onset. CMRO2 was clearly decreased in the cerebellum, while CBF was almost normal. Moreover, PET with 2 18F-fluoro-2-deoxy-D-glucose (FDG) revealed that glucose metabolism was also reduced in the cerebellum. Single photon emission tomography using 99mTc-ethyl cysteinate dimer (ECD) showed a normal blood flow pattern in the whole brain. These results indicated that uncoupling of circulation and metabolism in the cerebellum of this patient. There are several reports showing uncoupling of cerebral perfusion and metabolism in ischemic disorders, encephalitis, mitochondrial diseases, brain tumors, epilepsy and Gaucher disease, although its pathophysiology is not elucidated. Because anti-Yo antibody evidently gives a suppressive influence on the cerebellar neurons, understanding the way the autoantibody acts may give a clue to the mechanism of reduced cerebellar metabolism with preserved perfusion in PCD.
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PMID:[Uncoupling of cerebellar blood flow and metabolism in paraneoplastic cerebellar degeneration: report of a case]. 936 81

The objectives of this study were to determine the dose limiting toxicity (DLT) and other major toxicities, the maximum tolerated dose (MTD) and the human pharmacokinetics of N1N11 diethylnorspermine (DENSPM), a new polyamine analog which in experimental systems inhibits the biosynthesis of intracellular polyamines and promotes their degradation by inducing the enzyme spermine/spermidine N-acetyl transferase. These objectives were incompletely achieved because of the occurrence of an unusual syndrome of acute central nervous system toxicity which forms the basis of the present report. Fifteen patients with advanced solid tumors were entered into a phase I study of DENSPM given by a 1 h i.v. infusion every 12 h for 5 days (10 doses). The starting dose was 25 mg/m2/day (12.5 mg/m2/dose) with escalation by a modified Fibonacci search. Doses of 25 and 50 mg/m2/day were tolerated with only minor side effects of facial flushing, nausea, headache and dizziness (all grade I). At doses of 83 and 125 mg/m2/day, a symptom complex of headache, nausea and vomiting, unilateral weakness, dysphagia, dysarthria, numbness, paresthesias, and ataxia, was seen in 3 patients, one after 2 courses of 83 and 2 after 1 course of 125 mg/m2/day. This syndrome occurred after drug administration was complete and the patients had returned home. Lesser CNS toxicity was seen in 2 other patients at lower daily doses. Preliminary pharmacokinetics of DESPM measured in plasma by HPLC in 8 patients showed linearity with dose and a rapid plasma decay with a t1/2 of 0.12 h. We conclude that great caution is warranted in administering DENSPM on this schedule at doses of > or = 83 mg/m2/day.
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PMID:Unusual central nervous system toxicity in a phase I study of N1N11 diethylnorspermine in patients with advanced malignancy. 938 45

Forty-one patients suffering from autosomal dominant cerebellar ataxia type I (ADCA-I) were subjected to a genotype-phenotype correlation analysis using molecular genetic assignment to the spinocerebellar ataxia type 1, 2 or 3 (SCA1, -2 or -3) genetic locus, clinical examination and nerve conduction as well as evoked potential studies. Pyramidal tract signs, pale discs, and dysphagia were more frequent in SCA1 compared with SCA2 and SCA3 patients, while double vision occurred less frequently. Visual evoked potentials and motor evoked potentials following transcranial magnetic stimulation were abnormal in almost all SCA1 patients, but only in a minority of SCA2 and SCA3 patients. In contrast, somatosensory evoked potentials were delayed or absent in the majority of patients with no significant differences between the mutations. Abnormalities of brainstem auditory evoked potentials were found in about half of the patients irrespective of the underlying mutation. In addition, reduced sensory nerve action potentials, suggesting sensory axonal neuropathy were found in all three mutations. These findings provide electrophysiological evidence that pyramidal and visual pathways are differentially affected in SCA1, SCA2 and SCA3 patients.
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PMID:Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. 944 69

We report a 49-year-old man with progressive bulbar palsy and respiratory failure. He was well until his 48 years of the age (December 1994) when he noted a difficulty in speaking in loud voice. In February, 1995, he noted regurgitation of foods to his nose and difficulty in his speech. He was admitted to our service in May 29, 1995. On admission, he was alert and oriented to all spheres and he was not demented. His higher cerebral functions were normal. In cranial nerves, he showed dysarthria and dysphagia; muscle atrophies were seen in the tongue, the bilateral sternocleidomastoid, supraspinatus, and infraspinatus muscles. Fasciculations were seen in these muscles. He showed no muscle weakness in his limbs except for the upper limb girdle muscles, no ataxia, no reflex abnormalities, nor sensory changes. EMG showed neurogenic changes in the affected muscles. MRI of the brain and the spinal cord was entirely normal. He was discharged for out patient follow-up, however, in October of 1995, he noted difficulty in swallowing solid foods. Gastrostomy was placed and he was discharged to his home. In February 11th of 1996, he was found unresponsive and brought into the ER of our hospital. On admission, he was comatose without spontaneous respiration. BP could not be obtained. He was immediately intubated and artificial ventilation was started. On the following morning, he became alert and he was not demented. He continued to show marked dysarthria and dysphagia; again no weakness was noted in the distal parts of the upper and lower extremities. Laboratory examination showed increase in serum CK to 2,173 IU/L and amylase to 2,032 IU/L. He was extubated on February 15th, however, his spontaneous respiration was not suffice to maintain his blood gas. According to his will, he was not placed on respirator and he died on February 24th, 1996. The patient was discussed in a neurological CPC and the chief discussant arrived at the conclusion that the patient had ALS. Although no upper neuron signs were observed clinically, it is not uncommon to see degeneration in the corticospinal tract in post-mortem examination. The question was what might have been the cause of increase in CK and amylase. Many participants thought that they were secondary to multiple organ failure due to prolonged hypoxic state at his last admission; other possibilities raised included acute myocardial infarction and acute bowel necrosis. Post-mortem examination revealed muscle atrophy in the facial, lingual, cervical, intercostal, and the upper limb girdle areas. The lungs were unremarkable except for old organized pneumonic foci in the right middle and lower lobes. Marked to moderate congestion was seen in many internal organs, however, no other gross abnormality was found. It was thought that respiratory palsy itself was the direct cause of his agonal event. In the spinal cord, the anterior horns showed various degree of neuronal loss and gliosis. No clear evidence of pyramidal tract degeneration was seen at the light microscope level. Lower brain stem motor neurons were markedly reduced. But no Bunina body was found. The substantia nigra showed moderate degree of neuronal loss and extraneuronal neuromelanins. The locus coeruleus showed similar but milder changes. The degree of nigral degeneration appeared to be well beyond those which could be seen in usual ALS patients. The question was whether or not this patient might have been in an early stage of the extended form of ALS.
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PMID:[A 49-year-old man with progressive bulbar palsy and respiratory failure]. 949 5

Hearing impairment is a rare but characteristic symptom of vertebrobasilar occlusive disease. Two patients with anterior inferior cerebellar artery (AICA) infarction and hearing loss as presenting complaint, are described. In patient 1 progressive bilateral AICA infarction was caused by occlusion of the basilar artery, verified by transcranial Doppler sonography. Initial dizziness and bilateral hearing loss were followed by ataxia, dysarthria, dysphagia and right facial sensory impairment. Hearing loss improved during the second week, parallel to a temporary partial recanalisation of the basilar artery, but the patient subsequently developed further progressive brain stem symptoms and died. A right-sided AICA-infarction was diagnosed in patient 2. Initial symptoms were right-sided deafness and dizziness. Neurological examination revealed nystagmus, ataxia and involvement of th 5th and 6th cranial nerve. A progressive improvement of hearing loss and total recovery of the other brain stem symptoms was evident. In conclusion every patient with sudden hearing loss should be examined for additional brain stem symptoms since this can be the presenting sign of a life-threatening basilar artery thrombosis.
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PMID:[Hearing loss as the leading symptom in anterior inferior cerebellar artery infarction]. 956 60

Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. The onset of symptoms is usually between 20 and 40 years. We describe an infant who presented with neonatal hypotonia, developmental delay, and dysphagia. Ocular findings of retinitis pigmentosa were noted at 10 months. Her father had mild spinocerebellar ataxia first noted at age 22 years. Molecular studies of the SCA2 gene showed a CAG expansion of 43 repeats in the father and an extreme CAG repeat expansion of more than 200 in the baby. Our report expands the known phenotype and genotype of SCA2. Testing for dominant ataxias should be included in the evaluation of infants with nonspecific progressive neurologic symptoms and retinitis pigmentosa, especially in cases with a positive family history for spinocerebellar ataxia.
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PMID:Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. 977 6


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