An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.

Krabbe disease is a lysosomal storage disease caused by a deficiency of the galactocerebrosidase (GALC) enzyme, which leads to demyelination of the central and peripheral nervous systems. Almost all patients with Krabbe disease are infants, and this is the first report of adult-onset cases that describe pathological findings. Here, we present two autopsy cases: a 73-year-old female and a 2-year-old male. The adult-onset case developed symptoms in her late thirties and was diagnosed by the identification of GALC D528N and L634S mutations and by T2-weighted magnetic resonance imaging; she had increased signal in the white matter along the pyramidal tract to the bilateral precentral gyrus, as well as from the triangular part to the posterior horn of the lateral ventricle. Microscopically, Klüver-Barrera staining was pale in the white matter of the precentral gyrus and occipito-thalamic radiation, and a few globoid cells were observed. The GALC mutations that were identified in the present adult-onset case do not completely inactivate GALC enzyme activity, resulting in focal demyelination of the brain.

Significant Correlation between Delayed Relief after Microvascular Decompression and Morphology of the Abnormal Muscle Response in Patients with Hemifacial Spasm.

Although microvascular decompression (MVD) is a reliable treatment for hemifacial spasm (HFS), postoperative delayed relief of persistent HFS is one of the main issues. In patients with hemifacial spasm, stimulation of a branch of the affected facial nerve elicits an abnormal response in the muscles innervated by another branch. Several specific types of waves were found in the abnormal muscle response (AMR). This study aimed to confirm the relationship between the initial morphology of the AMR wave and delayed relief of persistent HFS after MVD. We retrospectively analyzed and compared the data from 47 of 155 consecutive patients who underwent MVD for HFS at our hospital between January 2015 and March 2020. Based on the pattern of the initial AMR morphology on orbicularis oculi and mentalis muscle stimulation, patients were divided into two groups, namely, the monophasic and polyphasic groups. The results of MVD surgery for HFS were evaluated 1 week, 1 month, and 1 year postoperatively, by evaluating whether or not the symptoms of HFS persisted at the time of each follow-up. There were significantly higher rates of persistent postoperative HFS in patients with the polyphasic type of initial AMR at 1 week and 1 month after the surgery (p < 0.05, respectively), as assessed using Yates chi-squared test and Fisher's exact test. A significant correlation was observed between delayed relief after MVD and polyphasic morphology of the AMR in electromyographic analysis in patients with hemifacial spasm.

Sequential Change of Facial Nerve Motor Function after Microvascular Decompression for Hemifacial Spasm: An Electrophysiological Study.

Hemifacial spasm (HFS) patients occasionally present with preoperative facial weakness (PFW) or develop delayed facial palsy (DFP) after microvascular decompression (MVD). This study is aimed to evaluate the neurophysiology underlying facial nerve motor dysfunction in HFS patients preoperatively and postoperatively. In all, 54 HFS patients without prior botulinum toxin injection who underwent MVD were retrospectively reviewed. The compound muscle action potential (CMAP) amplitude ratios of the affected and unaffected facial nerves, measured at 4 time points from preoperation to 1 year post-surgery, were aggregated. Clinical outcomes and the CMAP amplitude ratios were evaluated. Six patients (11.1%) presented with PFW, which correlated with advanced age (p = 0.007) and symptom duration (p = 0.001). The average duration to achieve PFW relief was 2.67 months postoperatively. The preoperative CMAP amplitude ratios of PFW patients were lower than those of patients without PFW (85.3% vs 95.7%). The ratios showed the lowest value at 1-week post-surgery in both groups (70.3% vs 90.9%), had a tendency toward improvement at 1 month, and finally recovered to almost the same level as that before the surgery at 1 year. Three patients (5.6%), whose CMAP ratios showed a persistent decrease from 1 week (56.5%) to 1 month (31%) after MVD, developed DFP. This study illustrates PFW in HFS patients reflects facial nerve axonal stress. MVD is effective in resolving spasm and PFW, without long-term damage to the facial nerve in most patients. In DFP patients, the direct and subsequent secondary axonal disorder develops on the postoperative facial nerve.

[A case of cerebral syphilitic gumma mimicking a brain tumor].

We report a case of young immunocompetent woman who was presented with a left parieto-temporal mass as the first and single manifestation of syphilis. A 23 year-old woman with no significant past medical history was reffered to our hospital due to 3 month history of headache. She had a single unprotected sexual intercourse with a promiscuous man 6 month before the time of admission. Physical and neurological examinations revealed no obvious abnormalities. A brain tumor was firstly suggested according to the findings of brain magnetic resonance imaging (MRI). However, the serologic and cerebrospinal fluid test of syphilis proved to be positive, syphilitic gumma was most likely suspected. She responded dramatically to benzylpenicillin potassium. Cerebral syphilitic gumma is a rare manifestations of the neurosyphilis. Treponemal invasion of the cerebrospinal fluid occurs in approximately 25 to 60% of patients after the infection, but most cases spend asymptomatic. Cerebral gumma should be considered in differential diagnosis of any intracranial mass lesions, even in the early syphilitic stages.

Clinicopathological features of neuropathy associated with lymphoma.

Lymphoma causes various neurological manifestations that might affect any part of the nervous system and occur at any stage of the disease. The peripheral nervous system is one of the major constituents of the neurological involvement of lymphoma. In this study we characterized the clinical, electrophysiological and histopathological features of 32 patients with neuropathy associated with non-Hodgkin's lymphoma that were unrelated to complications resulting from treatment for lymphoma. Nine patients had pathologically-proven neurolymphomatosis with direct invasion of lymphoma cells into the peripheral nervous system. These patients showed lymphomatous cell invasion that was more prominent in the proximal portions of the nerve trunk and that induced demyelination without macrophage invasion and subsequent axonal degeneration in the portion distal from the demyelination site. Six other patients were also considered to have neurolymphomatosis because these patients showed positive signals along the peripheral nerve on fluorodeoxyglucose positron emission tomography imaging. Spontaneous pain can significantly disrupt daily activities, as frequently reported in patients diagnosed with neurolymphomatosis. In contrast, five patients were considered to have paraneoplastic neuropathy because primary peripheral nerve lesions were observed without the invasion of lymphomatous cells, with three patients showing features compatible with chronic inflammatory demyelinating polyneuropathy, one patient showing sensory ganglionopathy, and one patient showing vasculitic neuropathy. Of the other 12 patients, 10 presented with multiple mononeuropathies. These patients showed clinical and electrophysiological features similar to those of neurolymphomatosis rather than paraneoplastic neuropathy. Electrophysiological findings suggestive of demyelination were frequently observed, even in patients with neurolymphomatosis. Eleven of the 32 patients, including five patients with neurolymphomatosis, fulfilled the European Federation of Neurological Societies/Peripheral Nerve Society electrodiagnostic criteria of definite chronic inflammatory demyelinating polyneuropathy. Some of these patients, even those with neurolymphomatosis, responded initially to immunomodulatory treatments, including the administration of intravenous immunoglobulin and steroids. Patients with lymphoma exhibit various neuropathic patterns, but neurolymphomatosis is the major cause of neuropathy. Misdiagnoses of neurolymphomatosis as chronic inflammatory demyelinating polyneuropathy are frequent due to a presence of a demyelinating pattern and the initial response to immunomodulatory treatments. The possibility of the concomitance of lymphoma should be considered in various types of neuropathy, even if the diagnostic criteria of chronic inflammatory demyelinating polyneuropathy are met, particularly in patients complaining of pain.

Correlation between periodic sharp wave complexes and diffusion-weighted magnetic resonance images in early stage of Creutzfeldt-Jakob disease: a report of two cases.

We evaluated the correlation between the periodic sharp wave complexes (PSWC) on EEG and the spreading lesions on diffusion-weighted (DW) magnetic resonance images (MRI) in two cases of Creutzfeldt-Jakob disease (CJD). In Case 1, DW-MRI showed increased signal intensity in bilateral caudate, bilateral parietal, and right temporo-occipital cortex at 7 weeks after onset. EEG showed PSWC of 1Hz frequency at 8 weeks after onset. Source localization analysis of the PSWC was conducted by low resolution electromagnetic tomography (LORETA), and localized the source in the cortex of bilateral parietal lobes and mesial frontal lobe, predominantly on the right side. At 10 weeks after onset, the PSWC source spread to bilateral parietal and frontal lobes, and the same spread was also observed for the lesion depicted on DW-MRI. In Case 2, DW images showed high signal intensity in the right parietal cortical lesion at 4 weeks after onset. PSWC of 2Hz frequency were seen in the routine EEG, and the source was localized in bilateral frontal lobes and right parietal lobe at 7 weeks after onset. The lesions on DW images also spread to bilateral frontal and parietal lobes. Nine weeks after onset, the source of PSWC extended to the right frontal lobe and bilateral parietal lobes, while the lesions on DW images progressed to the right temporal lobe and bilateral fronto-parieto-occipital lobes. Spreading DW-MRI lesions may correlate with the appearance of PSWC.