Case Reports in Neurology最新文献

Stiff person syndrome (SPS) is an extremely rare disease that presents with episodic painful muscle spasms and progressive muscle rigidity. Recent evidence suggests that SPS can rarely manifest with life-threatening respiratory complications. However, the pathophysiology behind respiratory failure in SPS is still not clearly understood. Here, we explored an extremely rare case of a 36-year-old African-American female with SPS presenting with multiple episodes of respiratory failure events for the past 9 years. She had an in-situ tracheostomy and was admitted to the hospital for tracheostomy evaluation and decannulation. 11 years ago she initially presented with gait abnormalities, stiffness, and spastic episodes. She was diagnosed 1 year later with SPS after detecting elevated anti-glutamic acid decarboxylase antibody levels in her blood. Through this report, we were able to follow a very rare case of SPS that presented with multiple episodes of respiratory failure. We pointed out the importance of early start and regular administration of diazepam, baclofen, and IVIg in not only controlling the symptoms and progression of the disease but also in preventing further respiratory failure and possible sudden death.

Prodromal dementia with Lewy bodies (DLB) refers to a state prior to the onset of dementia with clinical signs or symptoms that may indicate the future development of DLB. Prodromal symptoms can include not only cognitive deficits but also a mix of clinical features including sleep disorders, autonomic dysfunction, and neuro-psychiatric disturbances. While diagnostic criteria for the subtypes of prodromal DLB were recently published, they are largely used in research settings. However, these criteria have important implications for clinical practice. Recognition of prodromal DLB stages can lead to identifying deficits sooner, improved patient and family counseling, and advance care planning. This case series presents examples of the 3 subtypes of prodromal DLB - mild cognitive impairment onset, delirium onset, and psychiatric onset - to help clinicians identify individuals who may be on a trajectory to develop DLB.

West Nile virus (WNV) is classified as a Flavivirus, belonging to a Japanese encephalitis subgroup often transmitted via mosquitoes. The classic presentation of a WNV infection usually displays high fevers, myalgias, and headache which can progress to neck stiffness, stupor, and coma (Case Rep Infect Dis. 2020;2020:6501658). Our case study presented with a rare manifestation of ascending paralysis, encompassing the feared neuroinvasive disease pattern that is seldom exhibited. This case had an unusual presentation as certain manifestations experienced by our patient closely resembled that of Guillain-Barré syndrome, although others were more indicative of poliomyelitis-like syndrome. Overall, the mainstay of therapy in both conditions is supportive care, although the prognosis varies substantially depending on the underlying diagnosis.

COVID-19 is a novel virus which causes a variety of clinical manifestations in the body, some of which are yet to be discovered. The main aim of our study is to highlight the neurological manifestations of COVID-19 as it is still new to the medical world, and to emphasize the fact that the physicians have to be wary of the possibility that patients affected by COVID-19 can present with encephalitis. Only a few studies are available so far regarding the neurological manifestations of this novel virus which highlights the need for this study. We present a case series of 4 patients who were found to have COVID-19 encephalitis. There is still no disease-defining test for diagnosis so the mainstay of diagnosis is exclusion of all the common causes of encephalitis. Brain magnetic resonance imaging and cerebrospinal fluid analysis performs an ancillary in the diagnostic tools. Our study also supports the use of IV tocilizumab (4-8 mg/kg) and IV methylprednisolone (0.5-2 mg/kg) as possible treatment options with good results, as the patients described in our case series responded well to these medications.

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.