Volume 89  ·   Issue 47  ·  2009

hepatolenticuler degeneration (HLD) is an autosomal recessive genetic disease, which was first described by Wilson in 1912, so it is also called Wilson's disease (WD). The pathogenic gene is ATP7B gene, which encodes ATP7B protein. The mutation of ATP7B gene can cause ATP7B protein to lose its function, cause the obstacle of copper excretion, cause excessive copper deposition in liver, brain, kidney and other important organs, and cause corresponding tissue degeneration. The clinical manifestations are mainly liver damage, extrapyramidal symptoms, mental abnormalities, renal damage and skeletal deformities.

A 19-year-old female was admitted to hospital because of headache and occipital mass found for 1 year, which aggravated for half a year.The patient developed intermittent headache 1 year ago, which was obvious in the right occipital region, showing persistent swelling and pain. A head CT examination in the local hospital found a skull mass without any treatment. Half a year later, the mass gradually grew and bulged outwardly, and the headache aggravated. In the past 2 months, she developed difficulty in walking, accompanied by choking and coughing after drinking water and dysphagia.

Objective To analyze the relationship between phenotype and genotype and the role of immune cells in the pathogenesis of X-linked Charcot-Marie-Tooth disease ( CMT1X ). Methods The probands of the two families with X-linked dominant inherited peripheral neuropathy were evaluated clinically, electrophysiologically, pathologically and genetically. The available family members were genetic analyzed and the novel mutations were compared with other known ones. Results ( 1 ) In both families, affected members presented progressive weakness and wasting of distal extremities and it seems that males suffered more severely than affected females with onset in the first decade of their life. Proband of family 1 showed moderately elevated CSF protein and marked increase of IgG-syn in CSF. (2) Nerve conduction velocity ( NCV) of the peripheral nerves was intermediately slow in both motor and sensory nerves exhibiting the features of demyelination. Brain-stem auditory evoked potentials ( BAEPs) was abnormal in the proband of family 1: delayed Ⅰ -Ⅲ interpeak intervals were recorded but with nomal Ⅲ-Ⅴ interpeak intervals. (3) Sural nerve biopsy in the probands of the two families showed a prominent distinguished loss of myelinated fibers and a few clusters of regenerating axons without conspicuous onion-bulb formations. Thinly myelinated fibers was prominent in family 2 but not in family 1. Immunohistochemical staining showed that there were positive CD68 cells in the endoneurial space and lamellar sheath. (4) By genetic testing, we identified two novel missense mutations of GJB1 gene, which resulted in Ile127Phe amino acid substitution in family 1 ( located in the intracellular loop of connexin 32) and Asp178Gly amino acid substitution in family 2 (located in the 2~(nd) extracellular loop of CX32) , respectively. Both mutations were highly conserved in low species and were predicted to be possibly damaging through Polyphen prediction tool. Conclusion The two novel GJB1 gene mutations cause a spectrum of clinical manifestations of CMT1 X in both families. However, the mutations site of CX32 alone cannot predict these phenotypic variations in CMT1X fully. The immune system may be involved in the pathogenesis of the disease.

Objective To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease (CMT) and to establish a quick and effective diagnostic method. Methods Through denaturing high-performance liquid chromatography (DHPLC) combined with DNA sequencing, MFN2 gene mutation analysis was carried out in 35 Chinese CMT2 patients including 9 probands of CMT2 pedigree and 26 sporadic CMT2 patients. Results The investigators found three abnormal sequence variations in MFN2 gene:c. 281G→A,c. 395G→A and c. 408A→T. c. 395G→A ( C132T) was a novel causative missense mutation firstly reported while c. 281G→A ( R94Q) a hotspot mutation and c. 408A→T( V136V) a single nucleotide polymorphism (SNP). The accuracy and specificity of DHPLC detection reached up to 100%. Conclusion Through DHPLC combined with DNA sequencing, MFN2 mutations are detected in Chinese CMT2 patients. There are two causative missense mutations; c. 395G→A (C132T) and c. 281G→A (R94Q) and one SNP c. 408A→T (V136V). Such a method is an effective and economic diagnostic screening tool of MFN2 gene in CMT patients on a large scale.

Objective To investigate the clinical features and detection of pantothenate kinase 2 (PANK2) gene mutation in a Chinese patient with Hallervorden-Spatz syndrome ( HSS). Methods The clinical features were analyzed in one HSS patient. PANK2 gene mutations were detected by polymerase chain reaction ( PCR) and DNA sequence analysis in this patient, her parents and 50 unrelated healthy persons. Results The main symptoms of this patient were involuntary movements, dysarthria and progressive course. MRI scans showed hypointensity with a central region of hyperintensity in medial globus pallidus on T2 and T2-weighted fluid attenuated inversion recovery (FLAIR) images, i.e. " eye-of-the-tiger" sign. Novel compound heterozygous PANK2 gene mutations, G115T and A803G, were found in this patient, leading to substitution of a glutamic acid for a premature stop codon at amino acid 39 ( E39X) and an aspartic acid for glycine codon at amino acid 268 ( D268G) respectively. The father was a heterozygote for G115T mutation and the mother a heterozygote for A803G mutation. Conclusion PANK2 gene mutations are present in Chinese HSS patients. And A803G mutation of PANK2 gene is probably a hot spot.

Objective To investigate the clinical, pathological and ultrastructural features of nemaline myopathy ( NM ) . Methods The clinical manifestations of four patients in a rare autosomal recessive kindred with nemaline myopathy were analyzed retrospectively. Biopsied specimens of left gastrocnemius from the proband were detected and observed through light microscope using enzymatic histochemical methods for histopathological changes and through electron microscope for ultrastructural features. Results Four affected siblings in this kindred had an onset at birth or fetal stage, among whom two case were respiratory independent with delayed attainment of motor milestones and general muscle atrophy complying with typical form of NM, whereas the other two did not achieve adequate spontaneous movement or breathing, and died at neonatal period according with severe form of NM. Other clinical characteristics of elongated face, tent-shaped mouth and high-arched palate were also found. The proband had normal serum muscle enzymes and the karyotypic analysis showed a normal G band. Brain magnetic resonance image (MRI) indicated no abnormality. Electromyogram (EMG) showed typical muscle-derived damages of biceps, triceps, brachioradial muscle, vastus medialis muscle, anterior tibial muscle and gastrocnemius with normal motor conduction velocity of bilateral tibial nerves and common peroneal nerves. Myofibrillar atrophy was found through light microscopy with fiber type 1 predominance shown by ATP enzyme staining, yet without indication of lipid or glycogen deposition by ORO or PAS staining. Modified gomori trichrome ( MGT) treatment resulted in dark-red staining of nemaline bodies in myofibril cytoplasm. And it was also observed as purple-red staining followed by hematoxylin-eosin ( HE) treatment. Electron microscopic observation by lead-uranium double staining showed widened interstitial myofibrils, focal myofilament disorganization, partial myofilament atrophy, focal dissolution or necrosis, partial myofibrils nucleus pyknosis, numerous subsarcolemmal and perinuclear rod-like structures, partial nemaline bodies connected with Z discs, and mitochondria vacuolation or disappearance. Conclusion NM is among congenital myopathies characterized by marked clinical and pathological heterogeneity. The diagnosis of NM should be based upon typical clinical and histopathological features.[Key words ] Congenital myopathy; Autosomal recessive; Clinical classification; Nemaline body

Objective To evaluate the therapies and clinical outcome for different types of odontoid process fracture. Methods Twenty-one patients with odontoid process fracture were treated with different therapies for different Anderson-D'Alonzo classifications: three cases of type Ⅰ were treated by traction of occipital-jaw band and fixed with head-neck-chest plaster at 6 weeks; thirteen cases of type Ⅱ were treated by cannulated screws following skull traction and reduction; and for the cases of type Ⅲ , one was fixed with screw when the fracture was reduced by skull traction, and four with atlantoaxial pedicle screw. Results All cases were followed up for a mean of 9 months (range; 3-48). All cases achieved bony union. No postoperative complication was found. Conclusion Odontoid process fracture should be treated according to different types. Conservative treatment for type Ⅰ fracture and cannulated screws for type Ⅱ and low type Ⅲ fracture can obtain a satisfactory outcome. Atlantoaxial pedicle screw should be chosen if the superficial type HI fracture is not suitable for cannulated screw.

Objective To investigate the role of various multiple slice computed tomography (MSCT) and its reconstruction techniques in diagnosing intestinal obstruction(IO). Methods 419 cases diagnosed as IO by MSCT and proved by opereations or follow up were analysed ,retrospectively. Result As to the presence diagnosis of IO, in all the patients, CT diagnosis was consistent with the final results, while X-ray plain film had an accuracy of only 60. 5% (237/392). The causes of IO included adhesion 88. 6% (117/132), neoplasm 98.2% (112/114), external or internal hernia 93.5% (43/46), intussusception 97. 4% ( 37/38) , inflammatory disease (including 7 cases paralytic ileus, 83.3%, 30/36 ), enterolith 88. 5% (23/26), bowel torsion 90. 9% (10/11), trauma 62. 5% (5/8) , ischemia 100% (6/6), congenital lesion (100% ,2/2). Total sensitivity of etiology diagnosis with CT was 92. 8% (384/419), with accuracy , false positive and false negative to be 91.9% (385/419), 1.0% (4/419) and 7.2% (31/419), respectively. Conclusion MSCT can correctly diagnose the presence of the ileus, as well as can obviously enhance the accurate rate of diagnosis of its causes and characteristics, position, existence of close-loop and strangulation.

Objective To assess the usefulness of single photon emission computed tomography (SPECT) in detection of mediastinal lymph node metastasis from lung cancer. Methods Computed tomography ( CT) and SPECT were performed in 110 patients with lung cancer. Surgical staging was performed in all patients, and the results of the two modalities were compared with the pathologic findings. Results Cancerous nodes were found in 56. 4% of the patients. The sensitivity of CT in detecting mediasfinal node metastasis was 63. 6% ; specificity was 69. 7%. These rates for SPECT were 83. 3% and 67. 4% , respectively. Furthermore, the accuracy of CT and SPECT were 67. 3% and 70. 9% , respectively. However, SPECT had more limited spatial resolution than did CT. Conclusion SPECT is useful in evaluation of mediastinal node metastasis in lung cancer, especially for patients with enlarged nodes at CT.

Objective To establish an objective, simple and sensitive scoring system to evaluate the severity of acute-on-chronic liver failure in hepatitis B. Methods The clinical data of patients ( 194 survivals and 215 deaths) with acute-on-chronic liver failure in hepatitis B were collected and analyzed prospectively. 7 clinical indexes, including the hepatic encephalopathy, creatinine, prothrombin activity, serum total bilirubin, infection, the dimension of liver, the maximum depth of ascites, were scored objectively and simply from 0 to 4 points according to their severity . Then we calculated every patient's total score and divided the 409 patients into two groups: the one was 309 patients and the other is 100 patients. The first group was to establish the severity scoring system and define the cut-off-point, the second group was to test the severity scoring system. Results The total score of the 144 patients in the survival group was 6. 9 ±3. 2, 165 patients in the dead group was 15. 8 ±4. 0, respectively. There were significant differences ( P < 0. 01) between the two groups. The area under ROC curve was 0. 953. The cut-off-point is 9. 5. The sensitivity was 0. 97,the specificity was 0. 82. The second group patients' total score were divided into two groups:the one is ≥10 score and the other is ≤9 score. The prognosis of the first group was much worse than the second group, it's mortality rate was 87.5%; the second was 2.3% .There were significant differences between the two groups (P < 0. 01). Conclusions This scoring system was simple , sensitive and objective to evaluate the severity of acute-on-chronic liver failure in hepatitis B.

Objective Retrospective study on 127 cases of early microsurgery combined with antivasospasm agents for treatment of subarachnoid hemorrhage after the rupture of intracranial aneurysm. To evaluate the microsurgery for early-stage (3 days) of ruptured aneurysm. Methods 127 cases of subarachnoid hemorrhage after the rupture of intracranial aneurysm were diagnosed by MRI and CTA. Patients underwent early microsurgical clipping of intracranial aneurysm followed by antivasospasm agents treatment were retrospectively analyzed for their clinical manifestation, characteristics of imaging presentation, the curative effects and experiences of different operative approaches, surgical methods and techniques, pharmaceutical treatment and other integrated management. Results In all 127 cases, organized blood clot accompanied with subarachnoid hemorrhage and cerebral vasospasm surrounding the ruptured aneurysm was found in the course of surgical probing, among which 21 aneurysms ruptured during the operation; according to the GOS ,109 cases were cured or free of symptom, 23 cases got a transient hemiparalysis or aggravation of hemipralysis, among which 18 cases were free of symptom, 9 were slight disability, 6 were severe disability, 3 cases die when discharged. Conclusions Early operation could prevent second-time rupture effectively, lower the death rate, and at the same time lower the occurrence of cerebral vasospasm and the succeeding damage caused. Cerebral vasospasm is still the serious complication of subarachnoid hemorrhage of ruptured aneurysm and inappropriate management would cause critical consequences. Antivasospasm agents used postoperative could help preventing cerebral vasospasm and maintaining function.

Objective To evaluate the safety and efficiency of treating the senile intertrochanteric fractures with cannulated compression screws (CCS) with across solid frame in femur head via biomechanical tests and clinical application. Methods Biomechanical tests;the fracture model was made in 31-A1. 3 style, 6 pairs of flesh and embalmed cadaveric femurs were mechanically tested in a single-limb stance configuration. A material testing machine was used to apply vertical loads onto the femoral head. Both stiffness and reverse turn were recorded. Clinical application: from 1998 to 2006, According to damage control orthopedics (DCO) and American Society of Anesthesiologists (ASA) and the Evans classification, 51 patients received treatment with CCS with across solid flame in femur head. All the cases were followed up for 12 to 36 months (mean; 18 months). Results the differences between two groups in BMD (bone mineral density) were of statistical significance. And tensile rigidity and torsional rigidity of CCS were strong enough to bear weight. The CCS group had a lesser amount of blood loss or transfusion and lower treatment expenses. Conclusion Cannulated compression screw with across solid flame is strong enough to be employed as an effective method to treat aged intertrochanteric hip fractures with the advantages of simple procedure, minimal invasion, stable fixation and weight bearing.

Objective To investigate the relationship between lymph vascular space invasion (LVSI) and various clinicopathologic factors in early-stage cervical squamous carcinoma; to explore the expression of P53, COX2 and CD44V6 in early stage squamous carcinoma of cervix and its relationship with prognosis. Methods A case-controlled study was conducted to compare LVSI positive group (n = 44) in early stage squamous carcinoma of cervix with LVSI negative group ( n = 44 ). Expression of P53 , COX2 and CD44V6 were evaluated by immunohistochemical method to analyze the relationship between LVSI, P53, COX2 and CD44V6 and various clinicopathologic factors and to investigate their prognostic influences. Results LVSI positive was correlated with lymph node metastasis and deep stromal invasion. The 5-year disease-free survival was 68. 9% in LVSI positive group versus 94. 7% in LVSI negative group (P<0. 01). And the 5-year overall survival was 70.2% in LVSI positive group versus 100% in LVSI negative group (P <0. 01) with a significant difference. COX2 was correlated with clinical stage and tumor volume while there was no correlation with P53, CD44V6 and clinical factors. The overall survival of P53, COX2 and CD44V6 positive cases were significantly shorter than that of negative ones, especially in constant positive cases of 3 markers ( disease-free survival 60. 0 months shorter than constant negative cases with an overall survival of 91.3 months, but there was no significant difference). Conclusion LVSI is correlated with lymph node metastasis and deep stromal invasion in the early-stage squamous carcinoma of cervix while it is negatively correlated with disease-free survival and overall survival. COX2 is correlated with clinical stage and tumor volume. Furthermore P53 and CD44V6 are not correlated with clinical factors. The overall survival of P53, COX2 and CD44V6 positive cases are significantly shorter than that of negative ones.

Objective To evaluate the effects of TP5 upon the production of IFN-γ and different T cell subsets by human peripheral blood mononuclear cells (PBMCs) from patients with myasthenia gravis (MG) and to provide experimental rationales for TP5 in clinical therapy of MG. Methods PBMCs were isolated from peripheral blood of MG individuals and cultured with anti-CD3. The level of IFN-γ in culture supernatants was examined by ELISA. The subsets and frequency of IFN-γ-producing cells were examined at a single-cell level by flow cytometry. Results After PBMCs stimulation with anti-CD3 and TP5 (300 μg/ml) , the level of IFN-γ expression was significantly inhibited ( P_(child) =0. 0001 , P_(adult) =0. 01 ) ; and the level of IFN-γ expression from normal adult and child controls was also significantly inhibited (P_(child) = 0. 009,P_(adult) =0. 0001 ). In addition, the inhibition of TP5 on the production of IFN-γ by PBMCs from MG children was lower compared with normal child control. But as compared with normal adult control, the inhibition of TP5 showed no significant difference in MG adults ( P_(adult) = 0.481 ). TP5 inhibited the expression of IFN-γ by CD8 + T cell and CD4 + T cell. Conclusion TP5 can inhibit the response of cellular immune by decreasing the production of IFN-γ in MG consequence display that the level of IFN-γ significant decreased with the addition of TP5 and anti-CD3. But after considering the age, the level of IFN-γ in MG children was no as much inhibited as normal child. TP5 inhibits the expression of IFN-γ by CD8 + T and CD4 + T cells.

Objective To investigate the prevalence of various mental disorders of suicide attemplers and analyze the clinical features of suicide attempters with mental disorders. Methods The investigators randomly selected four Class Ⅲ general hospitals from different parts of Shenyang and collected 239 suicide attempters over 15 years old at emergency room. When the conditions of suicide attempters improved after rescue, the investigators studied by suicide general table, self-injury questionnaire, Hamilton Depression Rating Scale for Depression-24 and Structure Clinical Interview for DSM- Ⅳ Axis Ⅰ Disorders-Patient Edition. Results The overall prevalence of mental disorders in attempted suicides was 69.46% while self-injury, one of the highest prevalent mood disorders, accounted for 48. 12%. During the year before suicide, only 7. 23% of the suicide attempters with mental disorders consulted a psychologist or psychiatrist, and took anti-psychosis drugs, anti-depression or anti-anxiety drugs. Suicide attempters with mental disorders often committed suicide less impulsively. And their purpose was to relieve themselves and reduce the burden of others so that the rate of self-help was lower after their injuries occurred; suicide attempters with mental disorders had more obvious symptoms. And their degrees of depression were greater (P < 0. 05 ) than ones without mental disorders. Conclusion The prevalence of mental disorders at emergency rooms in general hospitals is high in suicide attempts, but the pre-suicide consulting rate remains so low. The depressive components of mental disorders are most directly related to suicidal behaviors of suicide attempters.

Objective To explore protective mechanism of Lipo-PGE_1 on hepatic ischemia-reperfusion injury. Method Twenty-one adult dogs were divided into three groups randomly; CON group, Ⅳ group and SMA group, each group includes seven dogs. Animals were occluded porla hepatis 45 min and reperfused 60 min to establish I/R injury models. Lipo-PGE, administration was conducted once before porta occlusion 5 min and after reperfusion 60 min in Ⅳ and SMA group, the dosage of Lipo-PGE_1 was μg · kg~(-1) and rate was 0. 05 μg · kg~(-1) · min~(-1); and 0. 9% sodium chloride administration was conducted once at same time, the rate of NS was 2 ml·kg~(-1). CT perfusion imaging, free pressure of portal vein, oxygen content of portal vein and hepatic oxygen delivery, index of liver function (ALT, LDH and TB) were performed in succession and compared before and after I/R. Simultaneously, the morphology of liver samples were observed by light microscope and electron microscope. Results ( 1 ) The liver perfusion was markedly decreased in the CON group, and moderately decreased in Ⅳ group and mildly in SMA group. (2) There was no significant difference of CpvO_2 in group comparison (P>0. 05) before and after I/R, but there was an increasing tendency in SMA group after I/R. There was significant difference of HDO_2 in group comparison before and after I/R (P < 0. 05 ) , but mildly in SMA group. ( 3) FPP increased obviously after I/R in control group, but there were no significant differences in the other groups. (4)The serious injury of liver in CON group after I/R was detected under light microscope and electron microscope, and moderately improved in Ⅳ group and markedly improved in SMA group. Conclusion The protective mechanisms of Lipo-PGE_1 on hepatic ischemia-reperfusion injury include; improving microcirculation, releasing FPP, increasing CpvO_2 and HDO_2 ,as well as alleviating parenchyma injury.

Objective To investigate the effect of high thoracic epidural anesthesia on ventricular remodeling and cardiac function in rats with heart failure induced by myocardial infarction, and to investigate their mechanism. Methods Rats that had been established successively model were randomly divided into S group (n = 12) , HTEA group and CHF group (24/group). 9. 0 g/L normal sodium 100 μl/kg was injected to epidural cavity twice a day separately in group S and group CHF. 1. 25 g/L bupivacaine 100 μl/kg was injected to epidural cavity twice a day in group HTEA. Epidural injection was started 24 hrs after the epidural surgery and continued 4 weeks. Then the change of cardiac function was observed by using echocardiogram. The ratio of heart weight to body weight ( HW/BW ) and the ratio of left ventricular weight to body weight (LVW/BW) were measured. Noninfarct ventricular tissue were stained with hematoxylin-eosin (HE) and Masson's trichrome respectively. Β_3-adrenoceptor levels and eNOS levels were detected with reverse transcription-polymerase chain reaction ( RT-PCR) and immunohistochemistry. Results LVEDD and LVESD were significantly decreased in the group HTEA compared with group CHF ( P < 0. 01 ) , while LVEF% and LVFS% were significantly increased ( P < 0. 01 ). The ratios HW/BW and LVW/BW were significantly increase in the group CHF compared with the group S(P <0. 01), but they were limited in the group HTEA (P<0. 01). Hypertrophy and edema, degeneration and necrosis of myocytes can be seen in rats with CHF, as well as muscle fibers disruption and collagen fiber increase, while the pathological morphous were attenuated in HTEA rats. Β_3AR and eNOS mRNA levels were significantly decreasedinthegroupTHEA compared with the group CHF. Conclusions These results indicate that HTEA could ameliorate ventricular remodeling and cardiac function in rate with heart failure induced by myocardial infarction. The mechanism could involve decreases of β_3AR expression in rats of heart failure.

A 56-year-old female was admitted to hospital in March 2009 due to rash for 6 years, chest and back pain for 4 years, and low back pain for 3 years, which aggravated for half a year.In 2003, the patient developed needle-tip-sized impetus on the palmar side of both hands, plantar sole and lower leg without inducement, which was dense or scattered, accompanied by mild pruritus, and could rupture spontaneously. After rupture, desquamation and redness appeared, which appeared repeatedly. Two years later, intermittent swelling and pain in the upper sternum and anterior ribs, pain in the back and scapular area appeared, which affected activities, and no redness.

At present, the clinical treatment effect of primary malignant spinal tumor is still not ideal. Why? To improve the level of clinical diagnosis and treatment of primary malignant spinal tumor, it is necessary to deeply understand its biological behavior, and understand the basic research progress of primary malignant spinal tumor from the aspects of malignant tumor cell molecular biology and clinical application.

Germ cell tumors are tumors originating from embryonic germ cells, accounting for 0.5% ~2% of intracranial tumors, and 70% of them occur between 10 and 21 years old. The incidence rate of male and female is about 2:1. They are mainly located in the midline, and are more common in the pineal and suprasellar regions. According to the World Health Organization (WHO) classification of central nervous system tumors in 2007, there are six pathological types of germ cell tumors, including germ cell tumors, embryonic carcinoma, yolk sac tumors, choriocarcinoma, teratoma and mixed germ cell tumors.

A 26-year-old female was treated at the Third Hospital of Hebei Medical University at 19:00 on July 15, 2009, mainly due to sudden loss of vision in her right eye with eye pain for 6 h. The patient was treated with "psoriasis" on the forehead by subcutaneous injection of triamcinolone acetonide 6 h ago. Immediately after the injection, she developed headache, dizziness, nausea, general weakness, no vomiting and disturbance of consciousness. At the same time, she developed loss of vision in her right eye with eye pain and urgently went to the local county hospital. She was diagnosed as "central retinal artery occlusion in the right eye". After "20% mannitol 250 mJ intravenous drip" was given, the systemic symptoms were relieved, but the ocular symptoms were not relieved. For further diagnosis and treatment, she was transferred to our hospital 6 h after the disease.

A 35-year-old male was admitted to the hospital on August 5, 2009, mainly due to eyelid ptosis and double vision for 16 years, accompanied by episodic limb ankylosis and clonus for 9 years. Sixteen years ago, the patient gradually developed left eyelid ptosis without obvious inducement, accompanied by blurred vision and double vision, no light in the morning and heavy in the evening, and no muscle weakness in other parts of the body. He went to the local hospital and was given intramuscular injection of neostigmine, but the symptoms did not improve significantly, and no special treatment was given. Twelve years ago, the patient gradually developed right eyelid ptosis, which was not diagnosed and treated. Nine years ago, after exertion, the patient developed episodic upward turning of both eyes during night sleep, which did not respond to calls, and the limbs were ankylosis and clonus, which lasted for about 1 min and then relieved.