Development of Acute Inflammatory Demyelinating Polyneuropathy 11 Days after Spinal Surgery: A Case Report and Literature Review.

Guillain-Barré syndrome (GBS) usually has a good prognosis; however, patients may develop sequelae without prompt treatment. We herein describe an 81-year-old woman who developed acute-onset excruciating thigh pain and weakness in her lower extremities after spinal surgery. We diagnosed acute inflammatory demyelinating polyradiculoneuropathy by a nerve conduction study, which showed findings of demyelination without cerebrospinal fluid analysis because of a spinal prosthesis. Although anti-GM1 and anti-GalNAc-GD1a antibodies were positive, the patient was clinically diagnosed with acute inflammatory demyelinating polyradiculoneuropathy (a subtype of GBS), not acute motor axonal neuropathy. She recovered well with immunoglobulin therapy. A literature review of 18 cases revealed that unexplained weakness, areflexia, and numbness of the extremities after spinal surgery, a shorter time from spinal surgery to symptom onset to general GBS, abnormal nerve conduction study results, normal spinal imaging findings, and the development of atypical symptoms such as cranial and autonomic nerve syndrome and respiratory failure are useful for diagnosing GBS when cerebrospinal fluid examination cannot be performed after spinal surgery.

A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

We report a 45-year-old female with clinical features resembling Noonan syndrome (NS) who presented with significant nerve root hypertrophy. She was initially diagnosed with Charcot-Marie-Tooth disease because her gait disturbance gradually deteriorated and nerve conduction velocity was reduced. However, she did not carry a PMP22 gene mutation. RASopathies are a group of phenotypically overlapping developmental syndromes caused by germline mutations that encode components of the Ras/MAPK signaling pathway. These disorders include NS, cardiofaciocutaneous (CFC) syndrome, and Costello syndrome and are associated with molecular abnormalities in the Ras/MAPK pathway. The patient was suspected to have NS and related disorders because of pulmonary artery stenosis, lymphedema, distinctive facial appearance, and intellectual disability. Genetic analysis identified a heterozygous de novo mutation in KRAS (c.211T>G, p.Tyr71Asp), which is usually observed in patients with NS or CFC syndrome. Although our patient was diagnosed with NS, she revealed clinical manifestations that were typical to CFC syndrome, including intellectual disability. It has been reported that some patients diagnosed with RASopathies with mutations in PTPN11, SOS1, or KRAS developed nerve root hypertrophy. These results suggest that nerve root hypertrophy may be associated with RASopathy, although the onset mechanisms of nerve root hypertrophy are unknown.

Clinical Characteristics and Clinical Course of Body Lateropulsion in 47 Patients with Brainstem Infarctions.

BACKGROUND: In patients with lower lateral medullary infarction (LMI) located under the vestibular nucleus, proprioceptive impairment due to dorsal spinocerebellar tract (DSCT) is considered a pathological condition for body lateropulsion. In patients with brainstem infarction located at or above the level of the vestibular nucleus, other pathways, such as the crossed vestibulothalamic tract (CVTT), are considered responsible. RESEARCH QUESTION: The clinical course of body lateropulsion between each anatomical level of infarction remains unclear. Further, whether body lateropulsion refers to a static or a dynamic symptom also remains unclear. METHODS: We examined 47 patients who exhibited body lateropulsion and categorized them into four groups: lower LMI under the vestibular nucleus, LMI at the level of the vestibular nucleus, pontine infarction, and midbrain infarction. The patients' time to acquire static upright standing position and gait in a straight line were statistically analyzed by a log-rank test using the Kaplan-Meier method. RESULTS: Body lateropulsion in the static upright position was less frequent in the lower LMI group than in the other groups. SIGNIFICANCE: Lower LMI primarily affected body lateropulsion in gait. DSCT damage could affect ipsilateral hip joint or leg coordination, causing body lateropulsion in dynamic situation.

[Metabolic insult causing re-expression of old stroke (MICROS) presenting as stroke mimics].

BACKGROUND: Metabolic insult causing re-expression of old stroke (MICROS), one of the stroke mimics, is characterized by reappearance of impairment of past stroke and can be mistaken for a stroke recurrence. The aim of the present study was to identify the clinical characteristics of MICROS in emergency stroke care, and to investigate predictive factors for distinguishing MICROS from stroke recurrences. METHODS: In our Stroke Center, 519 consecutive patients admitted with suspected stroke in June 2016 to December 2017. MICROS was defined as an acute deterioration of neurological deficits of the previous stroke despite no evidence for stroke recurrences. Among the 70 patients with a past history of stroke, 14 were MICROS, 5 were transient ischemic attack, 15 were other stroke mimics, and 36 were stroke recurrences, respectively. We evaluated the clinical characteristics of MICROS and compared MICROS with stroke recurrences. RESULTS: The causes of MICROS were infectious disease (including influenza and pneumonia) in 4, transient somnolence after syncope in 4, hypo/hyperglycemia in 2, medication overdoses in 1, and anxiety in 3. Eight of the 14 MICROS patients were admitted within 4 hours after the symptom onset. In MICROS patients, fever (>37°C) was observed more frequently than those with stroke recurrences though the difference was not statistically significant. CONCLUSION: MICROS might be associated with fever, syncope, or serum glucose abnormality. MICROS patients sometimes visit the hospital emergency room within 4 hours, thus, distinction between MICROS and true stroke recurrences is important.

Hemophagocytic Lymphohistiocytosis Associated with Scrub Typhus: Systematic Review and Comparison between Pediatric and Adult Cases.

BACKGROUND: Scrub typhus is a mite-borne bacterial infection caused by Orientia tsutsugamushi. Hemophagocytic lymphohistiocytosis (HLH) is a potential severe complication. Most reported cases of HLH associated with scrub typhus were single cases or case series with a small sample sizes. Thus, no clear consensus exists on clinical manifestations and differences between pediatric and adult cases of this condition. METHODS: a systematic search of English and Japanese articles from PubMed, PubMed Central, and Directory of Open Access Journals databases was performed from 3 December 2016 to 28 December 2017. The primary outcome was mortality in patients with HLH associated with scrub typhus; secondary outcomes were differences in clinical symptoms, laboratory findings, and treatment between pediatric and adult patients with HLH associated with scrub typhus. RESULTS: thirty cases of HLH associated with scrub typhus were identified (age range: 2 months to 75 years; median age: 21.5 years, male:female ratio, 1:1). Eschar was frequently observed in the pediatric group (p = 0.017), whereas acute kidney injury was more prevalent in the adult group (p = 0.010). Two patients died of intracranial hemorrhage complicated with multiple organ failure; overall mortality rate was 6.7%. CONCLUSIONS: HLH associated with scrub typhus could be cured with remarkable improvement using single antibiotic therapy in approximately half the cases, with the mortality rate being relatively lower than that of HLH associated with other secondary causes.

Ipsiversive Ocular Torsion, Skew Deviation, and Hearing Loss as Initial Signs of Anterior Inferior Cerebellar Artery Infarction.

A 67-year-old man with hypertension and type 2 diabetes mellitus was admitted to our hospital because of left hearing loss and vertical diplopia. A neurological examination showed ocular torsion, skew deviation, and sensorineural hearing loss in the left ear. Brainstem and cerebellar neurological signs were not observed. Left middle cerebellar peduncle infarction was evident on magnetic resonance imaging. He was treated with antiplatelet, however, the infarct progressed after this administration. Ocular tilt reaction (OTR) involves the triad of ocular torsion, skew deviation, and head tilt. Ipsiversive OTR components associated with hearing loss can be early diagnostic signs of anterior inferior cerebellar artery infarction.

Medullary hemorrhage that preceded the onset of multiple cavernous angiomas.

Medullary hemorrhage is rare, and the causative role of hypertension still remains controversial. Cavernous angioma and other vascular malformations have been reported to cause medullary hemorrhage. A 53-year-old man was admitted to our hospital for vertigo. Medullary hemorrhage and multiple small hypointense lesions were detected on T2-star weighted magnetic resonance imaging (T2*W MRI). One and four months later, the appearance of new lesions confirmed the diagnosis of cerebral cavernous angioma. Cavernous angioma is often characterized by de novo appearance/progression on MRI. A follow-up MRI is required to diagnose cavernous angioma in patients with medullary hemorrhage.

A phase I study of aromatic L-amino acid decarboxylase gene therapy for Parkinson's disease.

Gene transfer of dopamine-synthesizing enzymes into the striatal neurons has led to behavioral recovery in animal models of Parkinson's disease (PD). We evaluated the safety, tolerability, and potential efficacy of adeno-associated virus (AAV) vector-mediated gene delivery of aromatic L-amino acid decarboxylase (AADC) into the putamen of PD patients. Six PD patients were evaluated at baseline and at 6 months, using multiple measures, including the Unified Parkinson's Disease Rating Scale (UPDRS), motor state diaries, and positron emission tomography (PET) with 6-[(18)F]fluoro-L-m-tyrosine (FMT), a tracer for AADC. The short-duration response to levodopa was measured in three patients. The procedure was well tolerated. Six months after surgery, motor functions in the OFF-medication state improved an average of 46% based on the UPDRS scores, without apparent changes in the short-duration response to levodopa. PET revealed a 56% increase in FMT activity, which persisted up to 96 weeks. Our findings provide class IV evidence regarding the safety and efficacy of AADC gene therapy and warrant further evaluation in a randomized, controlled, phase 2 setting.

[A case of Crow-Fukase syndrome with respiratory failure due to bilateral diaphragmatic paralysis].

A 62-year-old man with well-controlled diabetes mellitus developed numbness of the bilateral feet and hands, followed by subacutely progressive weakness and amyotrophy of extremities. He became bed-ridden state, and dyspnea also appeared, so he was referred to our hospital. Physical examination revealed a lean man, with dark-reddish skin pigmentation, crabbed fingers, bilateral pretibial pitting edema, and bristles in extremities. Thoracoabdominal paradoxical respiration was observed and pulmonary vesicular sounds was decreased markedly in the both lungs. Laboratory data revealed hypoproteinemia, abnormalities of endocrine system, but M-protein was not detected. Serum vascular endothelial growth factor level was quite high. Chest radiography revealed elevation of the bilateral diaphragm, the % vital capacity (%VC) was 24%, and arterial blood gas analysis showed marked hypoxia with hypercapnia. These findings suggested that his respiratory failure was induced by bilateral diaphragmatic paralysis caused by bilateral phrenic nerve palsy due to Crow-Fukase syndrome. He became somnolent because of hypercapnic narcosis, so non-invasive positive pressure ventilation (NIPPV) was started. We treated him with intravenous immunoglobulin and oral corticosteroids therapies, and after these therapies, his symptoms were remarkably recovered and NIPPV became unnecessary soon. The most frequent causes of respiratory failure in Crow-Fukase syndrome are pleural effusion and pulmonary hypertension, and only two cases of this syndrome with respiratory failure caused by bilateral diaphragmatic paralysis were reported until now. When the patients with Crow-Fukase syndrome complain of dyspnea, we should take the diaphragmatic paralysis into consideration, which may be improved by appropriate therapies.

Cell Adhesion and Fusion Induced by Insemination in Zona-Free Hamster Eggs: Electrophysiological Monitoring of the Fusion Process: (fertilization/hamster egg/cell fusion/electrical coupling/hyperpolarizing response).

Cell adhesion and fusion were found to occur in zona-free hamster eggs placed in contact and then inseminated. A cytoplasmic fusion occurred in 7% of paired eggs mainly between 10 and 50 min after insemination. All other eggs that failed to fuse adhered tightly to one another within about 1 hr. Electrophysiological monitoring of the fusion process revealed that an electrical coupling (EC) suddenly appears between apposed eggs and completed within 2-15 min as the first step of cell fusion. Periodic hyperpolarizing responses (HRs), which have been found previously in fertilized hamster eggs to reflect a periodic increase in cytoplasmic Ca2+ ions, become gradually synchronized and completely coincide in paired eggs 10-30 min after the establishment of EC. Thus the paired eggs become an electrically single cell as the second step. Then the boundary between the eggs breaks down, resulting in formation of a single, spherical egg in several minutes. On the other hand, most of adhered eggs showed neither EC nor synchronization of HRs. Some adhered eggs showed only a low efficiency EC.