Clinical Neurology最新文献

The patient was a 72-year-old man who presented to our hospital with gait disturbance. He had sustained a spinal fracture one year earlier. Neurological examination revealed left-sided hemiparesis, dysarthria, and a National Institutes of Health Stroke Scale (NIHSS) score of 3. Brain MRI demonstrated cortical infarctions in both cerebral hemispheres. Transesophageal echocardiography revealed a grade 3 patent foramen ovale (PFO) accompanied by an atrial septal aneurysm. He exhibited hypoxemia in the upright position, which improved when supine, leading to a diagnosis of platypnea-orthodeoxia syndrome (POS). He underwent percutaneous PFO closure and was subsequently discharged home. Fifteen weeks after surgery, left-sided paralysis was observed, and paroxysmal atrial fibrillation was detected, leading to a diagnosis of cardioembolic stroke. A PFO, which had been asymptomatic, contributed to the development of POS due to its impact on thoracic compression fractures and atherosclerosis. In the care of elderly patients, the coexistence of multiple conditions is not uncommon, necessitating careful interpretation of test results.

The patient was a 65-year-old man who noticed difficulty raising his right upper limb. One month later, he began to feel numbness from the right posterior neck to the right posterior shoulder. Neurological examination revealed weakness in the muscles innervated by the right C5 and C6 nerves, but no corresponding abnormalities were identified on cervical MRI. Needle electromyography indicated fasciculation potentials, positive sharp waves and fibrillation potentials in the paraspinal muscles of the C5 and C6 levels, leading to a diagnosis of proximal cervical spondylotic amyotrophy (CSA). CSA is reported to have no significant findings on MRI in approximately half of cases. Diagnosis of CSA requires confirmation of muscle weakness and atrophy with a segmental distribution through neurological examination. Furthermore, neurogenic changes in the paraspinal muscles on needle electromyography serve as evidence of impairment from the anterior horn of the spinal cord to the posterior branches of the spinal nerves.

A 59-year-old woman had abnormal behavior, anorexia and drowsiness from three weeks ago. She had disorientation, recent memory impairment, elevated blood pressure, and hyponatremia. Brain MRI showed a FLAIR high signal intensity lesion in the left medial temporal lobe. The cerebrospinal fluid was normal. Autoimmune encephalitis was suspected, and steroid pulse therapy and plasma exchange were performed. Electroencephalogram showed repeated electrographic seizure waveforms, and lacosamide was administered. Serum anti-leucine-rich glioma inactivated protein 1 (LGI1) antibody was found to be positive. The lesion had disappeared by the 90th days after onset. In autoimmune encephalitis, the possibility of epilepsy should be suspected and electroencephalogram (EEG) recording should be actively performed. Electrographic seizure pattern on EEG may be useful for early diagnosis of LGI1 antibody-associated encephalitis.

We report a case of a 75-year-old woman who has had poor physical performance since childhood and developed bilateral lower limb muscle weakness at age 54. At 64, she was diagnosed with Charcot-Marie-Tooth disease type 4C (CMT4C) due to a homozygous p.Arg77Trp variant in the SH3TC2 gene. At 74, she developed memory impairment. At 75, brain MRI revealed extensive cerebral white matter lesions with T₂-weighted hyperintensity and linear high intensity signal along the corticomedullary junction on diffusion-weighted imaging. Suspecting neuronal intranuclear inclusion disease (NIID), we performed a skin biopsy which demonstrated p62-positive intranuclear inclusions, and genetic testing identified the GGC repeat expansion in the NOTCH2NLC gene. The pathogenicity of the SH3TC2 variant identified in this patient remains uncertain, and her peripheral neuropathy was consistent with mild demyelination attributable to NIID. Therefore, we interpret the patient's symptoms as primarily driven by NIID. This case highlights the importance of long-term follow-up and additional assessment when variants of uncertain significance are identified in genetic testing.

We report a case of a 79-year-old woman who presented with transient left upper limb weakness following recent cardiac surgery. Brain MRI revealed an acute infarction in the right caudate nucleus and multiple old microbleeds. Magnetic resonance angiography and contrast-enhanced CT demonstrated extensive fusiform dilatation of the supraclinoid internal carotid arteries, middle cerebral arteries, and posterior circulation, consistent with dolichoectasia involving both anterior and posterior circulations. The episode was diagnosed as a transient ischemic attack (TIA), and antithrombotic therapy was withheld due to coexisting chronic subdural hematomas and cerebral microbleeds. While posterior circulation dolichoectasia is relatively well documented, anterior involvement and combined anterior-posterior cases are rare. This case underscores the importance of considering dolichoectasia in the differential diagnosis of TIA, especially when neuroimaging reveals atypical vascular morphology. Recognition of this entity and further accumulation of case data are crucial to elucidate its underlying mechanisms and optimize treatment strategies.

A 36-year-old woman with a history of neurofibromatosis type 1 (NF1) presented with acute onset of left-hand weakness, numbness, and pain. Neurological examination revealed Horner's syndrome, distal weakness in the C8-T1 myotomes, and sensory disturbances in the corresponding dermatomes. The constellation of these signs was consistent with Pancoast syndrome, involving both the sympathetic trunk and the lower brachial plexus. Nerve conduction studies demonstrated reduced distal compound muscle action potentials and reduced or absent sensory nerve action potentials from multiple nerves in the C8-T1 territories, supporting involvement of the lower trunk. Chest X-ray revealed a large apical mass, and cervical MRI showed that the mass was compressing the brachial plexus at that level, accounting for her symptoms. Histopathological examination of a specimen obtained from the apical mass confirmed malignant peripheral nerve sheath tumor (MPNST). The patient underwent multimodal treatment including partial resection, embolization, radiotherapy, and chemotherapy, which controlled tumor growth and allowed her to maintain functional independence over a two-year follow-up. This case highlights the importance of early recognition of MPNST in NF1 patients presenting with new neurological symptoms. It also underscores the value of careful neurological examination and electrophysiological studies in accurately localizing the responsible lesion.

We report herein a 57-year-old man who presented with recurrent cerebral infarctions in one year. His father had multiple stroke episodes starting in his late 50s. Brain MRI FLAIR showed diffuse hyperintensities in the deep white matter, suggesting cerebral small vessel disease (CSVD). Notably, susceptibility-weighted imaging (SWI) revealed dot-like lesions along the surface of the midbrain ("Chocolate Chip Sign"). These findings suggested high temperature requirement A serine peptidase 1 (HTRA1)-related CSVD. The mutational analysis of the HTRA1 gene disclosed a heterozygous missense variant (NM_002775.4:c.754G>A, p.Ala252Thr). "Chocolate Chip Sign" on SWI could be useful in diagnosing heterozygous HTRA1-related CSVD.