Case Reports in Neurology最新文献

Dominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow progression. We present a case of SPTLC1-associated JALS followed for 30 years. She was initially evaluated at age 22 years for upper extremity weakness. She experienced gradual decline in muscle strength with development of weakness and hyperreflexia in lower extremities and diffuse fasciculations in the upper extremities at 26 years. She lost independent ambulation at age 45 years. Pulmonary function declined from a forced vital capacity of 94% predicted at 27 years to 49% predicted at 47 years, and she was hospitalized twice for respiratory failure. To our knowledge, this is the longest documented follow-up period of JALS caused by a de novo pathogenic variant in SPTLC1.

Cytotoxic lesions of the corpus callosum (CLOCCs) are secondary lesions associated with a variety of clinical causes. The presence of a small and reversible lesion in the splenium of corpus callosum with restricted diffusion on cranial magnetic resonance imaging is the defining feature. The clinical-radiological manifestations have been documented as mild and reversible. Severer presentations were scarcely reported. In this report, we described a 25-year-old man with preceding fever, worsening somnolence, and convulsions. He was diagnosed with acute meningoencephalitis and Mycoplasma pneumoniae infection after workups. After medical treatments, he had neurological deterioration and progressing CLOCCs from a small oval lesion in the center of splenium extending to the whole corpus callosum and bilaterally adjacent white matter. The patient received intravenous methylprednisolone and immunoglobulin successively, and his neurological conditions improved. The CLOCCs, not always mild and reversible, could present with severe clinicoradiological features.

Nitrous oxide-induced myelopathy is a relatively well-known clinical entity. Less well-known, however, is the rare inverse Lhermitte phenomenon, where neck flexion elicits an ascending, rather than descending, electric shock-like sensation. This is a characteristic symptom and sign that may occur in nitrous oxide toxicity. In this article, we present the case of a patient who was admitted to our hospital with suspected Guillain-Barré syndrome due to her ascending numbness and unsteady gait. We describe her examination and laboratory features leading to the correct diagnosis, along with a historical review of the various subtypes of the Lhermitte phenomenon and the pathophysiology of nitrous oxide-induced myelopathy.

Isoniazid is one of the most important drugs in the management of pulmonary tuberculosis; of all the antituberculous drugs, it is one of the most commonly implicated drugs in drug-induced psychosis. We report a case of isoniazid-induced psychosis in a 31-year-old patient with pulmonary tuberculosis.

Although the prognosis in Guillain-Barré syndrome (GBS) is generally good, protracted and incomplete courses of recovery can be a heavy burden. Animal studies suggest growth hormone (GH) treatment could stimulate myelin repair and thus accelerate functional recovery in acute polyneuropathy. We report on the first use of GH in GBS. Our objective was to monitor safety and tolerability as well as to evaluate the effect of an off-label GH therapy during recovery from GBS in 1 patient. A 28-year-old male with flaccid tetraparesis caused by pure motor GBS was treated off-label with GH (1 mg/day) for 10 weeks. Muscle strength was measured regularly before, during, and after the treatment over a total span of 330 days. Serum levels of IGF-I were assessed before, during, and after GH treatment. Changes in strength gain were used as the main parameter of efficacy. No side effects of GH treatment were observed. Serum IGF-I increased from 177 ng/mL at baseline to an average of 342 ng/mL (normal range 78-270 ng/mL) during treatment. Prior to GH administration, strength (R² = 0.99, p < 0.01) was associated with time, representing the natural course of recovery. During GH treatment, the slope of strength gain increased (Glass' ∆ = 1.08, p < 0.01). The association between alterations of strength gain and IGF-I serum levels reached trend level (R² = 0.36, p = 0.09). In this single case, GH treatment seemed to be associated with faster muscular strength gain. Controlled studies are needed in order to establish GH as a potential therapeutic approach in motor GBS.

We report a patient presenting with unique neuroophthalmological features of contraversive ocular tilt reaction and concomitant contralesional pseudo-abducens palsy. Magnetic resonance imaging confirmed the presence of an acute infarct in the right thalamomesencephalic region. We discuss the clinical topography of these unique neuroophthalmological findings.

Addressing the seminal pathophysiology in Alzheimer disease (AD) is the next logical focus for effective intervention, given the initial disappointing and more recent possibly encouraging results of monoclonal antibody trials. Endothelial cell dysfunction-induced blood-brain barrier leak with associated prolonged capillary mean transit time (cMTT) and glymphatic outflow dysfunction is the most proximal events in the degeneration cascade. Sensitive and reproducible markers are required to both identify early disease and assess future treatment trial outcomes. Two participants, with mild cognitive impairment (MCI) and one with AD, were evaluated clinically prior to MRI in this small case series report. From seven 3D turbo gradient and spin echo (TGSE) pulsed arterial spin echo (PASL) MRI sequences six homologous region of interest in bitemporal, bifrontal, and biparietal lobes for each sequence were examined and plotted against time. By choosing late perfusion times during cMTT phase of perfusion linear analysis of signal decay could be utilized. A reference axial FLAIR sequence was also obtained. Slope of the linear analysis correlated to the rate of labeled proton clearance with reduced clearance occurring in AD participants compared to normal participants in our previous study. Whether similar differences in clearance rate extend to either MCI or early AD was investigated. Participants were categorized by clinical phenotype before MRI and compared to previously published phenotype cohorts: n = 18 normal/healthy, n = 6 AD, n = 3 MCI. Significant differences in labeled proton clearance rates between AD and MCI/control phenotypes within bilateral temporal lobes (left p = 0.004, right p = 0.002) and within bilateral frontal lobes AD versus controls (left p = 0.001, right p = 0.008) and AD versus MCI (left p = 0.001, right p = 0.001) were found. This noninvasive MRI technique has potential for identifying MCI transition to AD.

Central nervous system vasculitis (CNSV) is an uncommon and poorly understood form of vasculitis. Early recognition is important because medical treatment might improve the outcome. However, randomized clinical trials on CNSV treatment do not exist. Endovascular treatment has been reported in few cases, but no data exist for intracranial stenting. We report 2 cases of patients with suspected CNSV and recurrent clinical episodes, treated with intracranial stenting. A 48-year-old man had relapsing episodes of right hemiparesis. Neuroradiological exams showed severe left carotid terminus stenosis. Despite immunosuppressive therapy, neuroradiological follow-up exams showed a worsening of the aforementioned stenosis with many transient episodes of weakness in the right limbs and aphasia. A 64-year-old woman had a sudden onset of dysarthria and transient aphasia. Neuroradiological exams showed a severe arterial stenosis involving the origin of left anterior cerebral artery and middle cerebral artery (MCA). Despite dual antiplatelet therapy, she presented an acute onset of severe aphasia, due to an occlusion of the left carotid terminus and proximal MCA. In both cases, endovascular procedure and intracranial stenting was performed, with marked improvement of cerebral blood flow. No more clinical episodes were reported. Intracranial stenting may be a valid therapeutic option in selected patients with CNSV and involvement of medium or large size vessels with clinical worsening despite best medical treatment.

This case report highlights a possible consequence of damage to the left frontoinsular region. A 53-year-old woman with chronic obesity and headaches presented with seizure, leading to the discovery and resection of a large sphenoid wing meningioma. Postoperative brain imaging revealed loss of the left frontoinsular cortex and portions of the underlying white matter, claustrum, and striatum. Throughout her adult life, this patient had tried and failed to lose weight, but after surgery, she no longer desired to eat large meals, and without effort, her body mass index decreased from 38.6 (85th percentile) to 24.9 (25th percentile). Combined with previous research implicating the insular cortex in interoception, appetite, and drug-related urges, her reduced hunger and effortless weight loss after resection of the left frontoinsular cortex suggest that this region of the human brain may play a role in hunger-related urges that contribute to overeating.

Posterior ischemic optic neuropathy (PION), a relatively rare condition, is diagnosed primarily based on the clinical presentation of sudden visual impairment, an optic nerve-related visual field defect, and an initial normal optic disc that corresponds to its pathology of acute ischemia. Among its etiologies, nonarteritic PION is one of the most common causes. Studies on cases of PION associated with herpes zoster ophthalmicus (HZO) are limited, and the diagnosis was made based on the appearance of visual symptoms shortly following rashes. We describe a 64-year-old Asian woman with sudden painless visual loss in the upper half visual field of the left eye 6 weeks after ipsilateral HZO. Within a week, her left vision progressed to total visual loss. Initial examination revealed a near-total visual defect and a normal appearance of the optic disc in the left eye. Laboratory and imaging studies excluded the compressive, infiltrative, or inflammatory etiologies of the left optic nerve. Considering the temporal relationship between the skin rash and visual loss, HZO was the most likely cause of the nonarteritic PION. The patient was given a short course of oral valaciclovir and aspirin. At 6 weeks after the visual loss, an examination revealed stationary visual acuity and visual field defect in the left eye with a pale optic disc, and a retinal nerve fiber loss in the left eye. Compared with previous studies, our case demonstrated a delayed presentation of nonarteritic PION following HZO and broadened the scope of herpes zoster optic neuropathy.