Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding

Gaucher disease, a rare lysosomal storage disease caused by deficiency of glucocerebrosidase, may present with gastrointestinal bleeding. We report about an 11-month-old boy suffering from acute neuronopathic Gaucher disease who died after massive gastrointestinal bleeding. A gastric ulcer was found as the sole bleeding source. The gastric mucosa showed marked infiltration with Gaucher cells, in particular around the ulcer. Alterations of the gastrointestinal mucosa offer a new explanation for gastrointestinal bleedings in this disease.     

Neuroleptic malignant syndrome complicated by massive intestinal bleeding in a patient with chronic renal failure

A patient with chronic renal failure (CRF) developed neuroleptic malignant syndrome (NMS) after administration of risperidone and levomepromazine. In addition to the typical symptoms of NMS, massive intestinal bleeding was observed during the episode. This report suggests that NMS in a patient with CRF may be complicated by intestinal bleeding and needs special caution for this complication.     

Anterior spinal artery syndrome complicated by the ondine curse

BACKGROUND: Anterior spinal artery (ASA) syndrome results in motor palsy and dissociated sensory loss below the level of the lesion, accompanied by bladder dysfunction. When the cervical spine is involved, breathing disorders may be observed. OBJECTIVE: To describe the polysomnographic findings in a patient with cervical ASA syndrome complicated by a sleep breathing disorder. SETTING: Unit of neurology at a sleep center.Patient A 30-year-old man had an ischemic lesion that affected the anterior cervical spinal cord (C2-C6) bilaterally because of an ASA thrombosis. He developed ASA syndrome associated with respiratory impairment during sleep. RESULTS: The polysomnographic study during sleep showed a severe sleep disruption caused by continuous central apneas that appeared immediately after falling asleep. Treatment by intermittent positive pressure ventilation normalized the respiratory pattern and sleep architecture. CONCLUSIONS: The sleep breathing pattern was compatible with central alveolar hypoventilation due to automatic breathing control failure caused by a lesion of the reticulospinal pathway, which normally activates ventilatory muscles during sleep. This autonomic sleep breathing impairment resembles that found as a complication in patients who undergo spinothalamic tract cervical cordotomy for intractable pain. This surgical complication is known as the Ondine curse.     

A successfully treated parkinsonian patient with neuroleptic malignant syndrome complicated by status epilepticus and disseminated intravascular coagulation]

A 57-year-old woman with a 7-year history of Parkinson's disease was admitted to our hospital because of a high fever, disturbance of consciousness, increased muscular rigidity, tachycardia and hyperhidosis after she stopped taking her prescribed levodopa + carbidopa (Menesit) 400 mg/day. In the laboratory examinations, the erythrocyte sedimentation rate was 109 mm/h, thrombocytes 7.8 x 10(4)/mm3, fibrinogen 457 mg/dl, FDP 74.8 micrograms/dl, thus suggesting disseminated intravascular coagulation (DIC). According to her biochemical examination, the serum AST (253 IU/l), ALT (178 IU/l), CK (7115 IU/l) and BUN (25 mg/dl) levels were all increased. These laboratory data and the clinical course indicated the patient to be suffering from neuroleptic malignant syndrome (NMS) with DIC. She was diagnosed to have NMS associated with DIC. She was treated with dantrolene sodium, bromocriptine, and gabexate mesilate, and her symptoms thereafter gradually improved. On day 7, she developed status epilepticus in spite of the clinical improvement in her symptoms of NMS and DIC including a clouding of consciousness. The status epilepticus was also attenuated by the use of thiamylal sodium. Patients with Parkinson's disease associated with NMS are considered to have a low incidence of DIC, status epilepticus, and in Japan this may be the first case report of the successful treatment of NMS with DIC and status epilepticus in a patient with Parkinson's disease.     

A patient with brucellar cervical spondylodiscitis complicated by epidural abscess

Brucellar cervical spondylodiscitis and epidural abscess are serious medical conditions that can cause permanent neurological deficits. Fortunately, they are rare. We report a 34-year-old male patient, complaining of fever and neck pain and stiffness, with increased deep tendon reflexes. A lumbar puncture was normal. Brucella species organisms were isolated from blood cultures, and the Rose-Bengal test and the standard tube agglutination (STA) test were positive. The diagnosis was made on MRI. The patient was treated with doxycycline and rifampin daily for 16 weeks. On day 51 of treatment, the patient had no symptoms and his physical and neurological examinations were normal. His repeat cervical MRI was almost normal. The STA test was negative at week 20. It is important to consider brucellar cervical spondylodiscitis with epidural abscess in endemic regions.     

A patient with Parkinson's disease complicated by hypothyroidism who developed malignant syndrome after discontinuation of etizolam]

A 59-year-old man, who was diagnosed as having Parkinson's disease and depression seven years ago and was on oral antiparkinsonian agents, antianxiety agents, and antidepressants, developed a high fever, disturbed consciousness, and marked muscle rigidity after discontinuation of etizolam and amitriptyline. He was admitted to a nearby hospital. Hypothyroidism had been noted two months before admission. Marked muscle rigidity and increased serum CK were observed. Since discontinuation of benzodiazepine has been known to rarely trigger a neuroleptic malignant syndrome (NMS), he was diagnosed as having NMS. After receiving dantrolene and bromocriptine, these symptoms temporarily improved but he again developed consciousness disturbance, and convulsive seizures associated with an elevated serum CK. He was transferred to our hospital. On admission, the CK level was normal at 168 IU/l, while free T4 was 0.6 ng/dl (normal range, 0.9-2.3) and TSH was 108.7 mU/ml (normal range, 0.2-4.2) in serum, indicating the presence of primary hypothyroidism. As an increase in thyroid hormone dosage improved the thyroid function to normal level, his disturbed consciousness and muscle rigidity gradually improved. Convulsive seizure and recurrence of NMS in a short interval are unusual in neuroleptic malignant syndrome. In this patient, hypothyroidism may have contributed to the development of malignant syndrome through metabolic changes of the central dopaminergic system, and discontinuation of etizolam, a kind of benzodiazepine, may have triggered NMS, since there has not been reported that discontinuation of antidepressants including amitriptyline triggers NMS.     

A case of necrotizing tracheitis and tracheobronchomalacia in a patient with severe motor and intellectual disabilities

We report a 23-year-old male patient with severe motor and intellectual disabilities due to sequelae of intracranial hemorrhage, who have had suffered from pneumonia with pleural effusion after influenza infection followed by mechanical ventilation. This patient also had complication of tracheobronchomalacia. Positive pressure ventilation in addition to thoracheocentesis was necessary for the drainage of pleural effusion. Abrupt hypooxygenation during mechanical ventilation revealed the presence of necrotizing tracheitis, which was improved with removal of necrotic tissues by bronchoscopy and inhalation of steroid thereafter. To relieve the compression which worsened the tracheobronchomalacia, partial resection of the sternal bone was performed. This patient died of complications after operation. This case suggests the importance of accurate diagnosis and treatment of the mechanical ventilation complications including necrotizing tracheitis and tracheobronchomalacia which may be life-threating.     

Post-traumatic cervical kyphosis with surgical correction complicated by temporary anterior spinal artery syndrome.

Post-traumatic undiagnosed disco-ligamentous and osseous lesions of the cervical spine may eventually result in irreducible extreme kyphosis. Correction of such consolidated deformities requires major surgery with a combined posterior and anterior approach, aiming to correct bony impingement on neural and vascular structures, reduce deformity and to attain circumferential instrumentation and fusion in physiological alignment. This can be achieved using either a single-staged or a two-staged procedure. Regardless, this type of major surgery entails considerable neurological risks. Therefore, thorough planning of the intervention and considerable surgical experience is needed. We present an elderly woman with gross restriction of forward gaze and intractable nuchal and radicular pain due to cervical spine deformity. Her cervical kyphosis was corrected using preoperative skeletal axial traction for four days and subsequent operative reduction with circumferential instrumentation and fusion. The post-operative course was complicated by a temporary anterior spinal artery syndrome despite normal intraoperative somatosensory evoked potentials (SSEP) and by a wound infection requiring removal of the implant. Nevertheless, segmental fusion in physiological alignment was successfully achieved and the patient fully recovered from the neurological deficit and infection. Quality of life was significantly improved.     

Elevated fibrinopeptide A (FPA) in patients with Lesch-Nyhan syndrome.

The detection of elevated fibrinopeptide A (FPA) level in a patient with the Lesch-Nyhan syndrome complicated with cerebral infarction prompted us to examine FPA level in 3 other patients with the syndrome. FPA level significantly increased in all patients. Fibrinopeptide B beta 15-42 (FPB beta 15-42) level was increased in two, and both beta-thromboglobulin (beta TG) and platelet factor 4 (PF4) levels were elevated in one patient. These results suggest coagulation abnormalities in patients with Lesch-Nyhan syndrome.     

A progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy.

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B-cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia-Parkinsonism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management.     

颈动脉狭窄与急性脑卒中并发脑心综合征的相关性研究

目的 探讨颈动脉狭窄与急性脑卒中并发脑心综合征的相关性。方法 选取2015年6月-2018年6月本院收治的急性脑卒中患者100例作为脑卒中组,依据是否并发脑心综合征分为单纯组(n=64例)和脑心组(n=36例),同期体检中心健康人员50例作为健康组,检测所有人员颈动脉狭窄、左心功能[左心室内径(LAD)、左心室舒张末期内径(LVEDD)、左心室射血分数(LVEF)],分析颈动脉狭窄与急性脑卒中并发脑心综合征的相关性。结果 脑卒中组颈动脉狭窄程度、斑块发生率为(28.12±6.54)%、56.00%。脑卒中组LAD、LVEDD明显高于健康组,脑卒中组LVEF明显低于健康组(P<0.05); 脑心组颈动脉狭窄程度、斑块发生率、LAD、LVEDD明显高于单纯组,脑心组LVEF明显低于单纯组(P<0.05); 重度脑卒中患者的LAD、LVEDD明显高于轻度脑卒中患者,重度脑卒中患者的LVEF明显低于轻度脑卒中患者(P<0.05); Pearson相关性分析显示,颈动脉狭窄程度与LAD、LVEDD呈正相关(r=0.615,0.623,P<0.05),但与LVEF呈负相关(r=-0.618,P<0.05)。结论 颈动脉狭窄与急性脑卒中并发脑心综合征有关,检测颈动脉狭窄程度可作为评估急性脑卒中并发脑心综合征的重要参考指标。     

Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report

The purpose of this case report is to review the management of a boy with Lesch-Nyhan syndrome with deep-brain stimulation who had remission of self-injurious behaviors as a result. This patient was treated with intrathecal baclofen and, later, with deep-brain stimulation to reduce hypertonia. Goals were to improve wheelchair positioning for school attendance and to reduce the use of restraints for comfort. Intrathecal baclofen was implanted twice and decreased the hypertonia, but both were explanted because of infection. Deep-brain stimulation was initiated 2.5 years ago, and since that time, comfort and function have improved and caregiver burden has decreased. Improvements in dystonia with deep-brain stimulation have also occurred, and self-injurious behaviors have resolved.     

Cavernous sinus dural arteriovenous fistula complicated by edematous cerebral lesions from venous etiology

The authors report the case of a 38-year-old woman with a cavernous DAVF resulting in edematous lesions located in the territory of the ipsilateral basal vein. Transarterial embolization led to subtotal regression of the fistula associated with the regression of cerebral abnormalities. The authors discuss the pathophysiology of the cerebral edematous lesions and the therapeutic consequences according to the venous drainage of the cavernous sinus.     

脊髓空洞症合并吉兰-巴雷综合征一例

目的探讨脊髓空洞症(SM)合并吉兰-巴雷综合征(GBS)的临床特点、影像学及实验室检查特征、诊断标准。方法分析1例SM合并GBS临床资料。结果患者肌电图(EMG)提示周围神经轴索损害,脑脊液(CSF)未出现"蛋白-细胞"分离现象,胸椎MRI示胸7~8椎体水平脊髓内异常信号,考虑SM。结论 GBS脑脊液检查可能不出现"蛋白-细胞"分离现象;SM临床特点结合MRI即可确诊;两者的病因、发病机制均不同,为一合并症。     

A patient with Wallenberg's syndrome induced by severe cough.

A 45-year-old man developed severe cough with cervical pain. The patient was unable to hold an upright position. The origin of the right posterior inferior cerebellar artery was not enhanced by angiography. MRI showed a high signal intensity string-like structure of the right vertebral artery. In young patients, Wallenberg's syndrome related to mild head trauma has been reported. However, none of the previous studies related to vertebral arterial dissection was induced by severe cough. When cervical pain is present in young patients with severe cough, MRI should be performed to evaluate the possibility of vertebral arterial dissection.     

Massive bleeding from tracheoarterial fistula in an amyotrophic lateral sclerosis patient treated with long-term invasive ventilation: an autopsy case report]

We report a 43-year-old woman with familial amyotrophic lateral sclerosis (FALS) who died of massive bleeding from a tracheoarterial fistula. Four years after the onset of the disease, she received invasive ventilation by tracheostomy because of respiratory failure. Four years and 7 months later, she showed an abrupt hemorrhage from the tracheostomy and died. The postmortem examination revealed a fistulous tract between the tracheal mucosal ulcer and the brachiocephalic trunk. The ulcer was in close proximity to the tracheostomy tube. In order to avoid such unexpected complications, we should observe the contact site between the tracheal mucosa and the tracheal tube in chronic tracheostomy patients.