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Objective To summarize the clinical characteristics of a patient with cerebellar ataxia,areflexia,pes cavus,optic atrophy and sensorineural hearing loss (CAPOS) syndrome,followed by relative literature review.Methods The medical history,physical examination and results of relative auxiliary examinations were collected from a CAPOS syndrome patient,who was definitely diagnosed by gene detection.Results The patient was a 20-year-old male,complaining of poor coordination for 19 years,impaired vision for 15 years and hearing loss for 13 years.When he was eleven months old,weakness of four limbs happened after diarrhea but recovered spontaneously a few days later.Then his poor coordination was discovered.His vision has decreased progressively since the age of five and he began to suffer from bilateral hearing loss after fever at the age of seven.Anti-infectious and immunoregulatory treatment was ineffective at that time.Physical examination showed that bilateral visual acuity decreased.Transient horizontal gaze-evoked nystagmus and bilateral hearing loss were detected.Obvious shaking was observed with closed eyes and toes together.Finger-to-nose,finger tracking,heel-knee-tibia and alternate motion tests were slightly inaccurate.Deep tendon reflexes disappeared and no pes cavus was observed.Pure tone audiometry revealed bilateral sensorineural hearing loss.Cranial magnetic resonance imaging indicated bilateral optic atrophy.ATP1A3 gene detection in the patient showed c.2452G＞A (p.Glu818Lys) heterozygous mutation while his parents were detected no such mutation in the same locus.Conclusions As for young patients who suffer from acute cerebellar ataxia after fever,disappeared tendon reflexes,atrophy of optic nerves or sensorineural hearing loss,they should be alerted to CAPOS syndrome when immunomodulating or anti-inflammatory therapy has been proved to be useless.Positive family history and ATP1A3 gene mutation would be beneficial to definite diagnosis.
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Objective@#To summarize the clinical characteristics of a patient with cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome, followed by relative literature review.@*Methods@#The medical history, physical examination and results of relative auxiliary examinations were collected from a CAPOS syndrome patient, who was definitely diagnosed by gene detection.@*Results@#The patient was a 20-year-old male, complaining of poor coordination for 19 years, impaired vision for 15 years and hearing loss for 13 years. When he was eleven months old, weakness of four limbs happened after diarrhea but recovered spontaneously a few days later. Then his poor coordination was discovered. His vision has decreased progressively since the age of five and he began to suffer from bilateral hearing loss after fever at the age of seven. Anti-infectious and immunoregulatory treatment was ineffective at that time. Physical examination showed that bilateral visual acuity decreased. Transient horizontal gaze-evoked nystagmus and bilateral hearing loss were detected. Obvious shaking was observed with closed eyes and toes together. Finger-to-nose, finger tracking, heel-knee-tibia and alternate motion tests were slightly inaccurate. Deep tendon reflexes disappeared and no pes cavus was observed. Pure tone audiometry revealed bilateral sensorineural hearing loss. Cranial magnetic resonance imaging indicated bilateral optic atrophy. ATP1A3 gene detection in the patient showed c. 2452G>A (p. Glu818Lys) heterozygous mutation while his parents were detected no such mutation in the same locus.@*Conclusions@#As for young patients who suffer from acute cerebellar ataxia after fever, disappeared tendon reflexes, atrophy of optic nerves or sensorineural hearing loss, they should be alerted to CAPOS syndrome when immunomodulating or anti-inflammatory therapy has been proved to be useless. Positive family history and ATP1A3 gene mutation would be beneficial to definite diagnosis.
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Objective To assess the value of bulbocavernosus reflex (BCR) in the differential diagnosis of Parkinson' s disease (PD) and multiple system atrophy (MSA).Methods BCR was compared in 55 patients with PD,20 patients with MSA,and 50 healthy controls,who were enrolled from the Department of Neurology,the First Affiliated Hospital of Wenzhou Medical University from May 2013 to April 2014.The clinical features of autonomic nerves dysfunction were also recorded.Results Among all related autonomic symptoms,the occurrence rate of constipation,urinary urgency and frequency in patients with MSA was higher than those with PD.The elicit percent of BCR in patients with PD was 93％,higher than those with MSA (70％).The average latency of BCR in patients with MSA was longer than those with PD (tmale left =16.275,tmale right =14.269,tfemale left =5.954,tfemmale right =5.905,all P ＜ 0.05).The degree of BCR amplitude decreasing in three groups was MSA ＞ PD ＞ healthy controls.There was statistically significant difference among three groups (Fmale left =75.73,Fmale right =73.13,Ffemale left =72.70,Ffemale right =59.44,all P ＜ 0.05).The area under receiver operating characteristic curve (ROC) in differential diagnosis of PD and MSA of the average latency of BCR in male and female was 0.947 and 0.948.The area under ROC curve in differential diagnosis of PD and MSA of the average amplitude of BCR in male and female was 0.886 and 0.920.The ROC curve showed the average latency of BCR in male of 44.80 ms with a sensitivity of 95％ and a specificity of 84％,and in female of 61.35 ms with a sensitivity of 86％ and a specificity of 88％ ; the average amplitude of BCR in male of 0.37 mV with a sensitivity of 96％ and a specificity of 68％,and in female of 0.36 mV with a sensitivity of 98％ and a specificity of 76％,which were critical cutoff values in differential diagnosis of PD and MSA with the best sensitivity and specificity.Conclusion The latency and amplitude of BCR test helps to increase the accuracy in the differential diagnosis of PD and MSA.
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Objective To retrospectively analyze clinical manifestations of autonomic nervous system (ANS) and skin sympathetic response (SSR) in Lambert-Eaton myasthenic syndrome (LEMS).Methods Fifty-three LEMS patients' medical records were reviewed and information regarding clinical symptoms and signs of ANS and SSR testing results were collected.Results ( 1 ) The most common initial symptom of LEMS was weakness of lower extremities ( n =41 ) and the most common symptom of ANS dysfunction was constipation ( n =25 ) and dry-mouth ( n =23),which could be occurred before the onset of the legs (n =7).(2) In symptoms of ANS,cardiovascular system dysfunction was found in 4 patients include one of ingone of bradycardia,one of postural hypotension and 2 of tachycardia- Secretory glands dysfunction was found in 34 patients:23 dry-mouth,6 dry-eyes,and 8 patients sweating dysfunctions.Twenty-eight patients complained of alimentary dysfunction including constipation and diarrhea.Bladder dysfunction was found in 2 patients,who complained of urinary incontinence.Seven male patients complained of sexual dysfunction.Abnormal skin scratch test was found in 17 patients.(3) SSR was performed in 33 patients and 18 found abnormal.Conclusions ANS manifestations are common and prominent in LEMS patients.SSR abnormality is also common in LEMS.More electrophysiology tests are needed in LEMS patients.
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São relatados dois casos de pacientes com diagnóstico de morte encefálica e que apresentaram movimentos complexos dos braços (sinal de Lázaro). Todos os critérios para o diagnóstico de morte encefálica estavam presentes nesses casos. Os eletroencefalogramas mostraram-se isoelétricos. No caso 1, o sinal foi deflagrado pela movimentação passiva da cabeça; no outro, logo após o início do segundo teste de apneia. A fisiopatologia provável é discutida, acompanhada de revisão da literatura. A presença do sinal de Lázaro não exclui o diagnóstico de morte encefálica e deve ser conhecido e entendido pelos profissionais envolvidos no diagnóstico de morte encefálica e também por aqueles dos serviços de procura e transplante de órgãos.
Two patients' case were reported with encephalic death and who presented complex arm movements (Lazarus'sign). All the criteria for the encephalic death diagnosis were present in these cases. The electroencephalograms were isoelectrical. In case 1, the sign was started by the head passive move; in the other, immediately after the second apneoa test. The probable physiopathology is discussed, followed by literature review. The presence of the Lazarus'sign doesn't exclude the encephalic death diagnosis and must be known and understood by the professionals involved in the encephalic death diagnosis and also by the people in the services of organs search and transplantation.
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Reflex movements have been reported to occur in up to 75% of brain-dead patients, but this issue has not been addressed in Korea. The patients admitted to our hospital who met the criteria for brain death were enrolled between March 2003 and February 2005. The frequency and type of reflex movements in these patients were evaluated prospectively using a standardized protocol. Brain death was determined according to the guideline of Korean Medical Association. Of 26 patients who were included, five (19.2%) exhibited reflex movements such as the pronation-extension reflex, abdominal reflex, flexion reflex, the Lazarus sign, and periodic leg movements. This finding suggests that the frequency of spinal reflex movements is not rare and the awareness of these movements may prevent delays in brain-dead diagnosis and misinterpretations.