Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report.

BACKGROUND: Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by PNPLA2 gene mutations. Clinical manifestations are heterogeneous, and diagnosis is often delayed, usually gaining patients' attention due to the increased risk of cardiomyopathy. CASE PRESENTATION: We herein report a 36-year-old Asian male presenting with progressive limb weakness, muscle atrophy of limbs and trunk, dysarthria, and heart failure. Electromyography indicated myogenic changes, and muscle biopsy results revealed characteristics of lipid storage myopathy. Genetic analysis of PNPLA2 revealed two heterozygous mutations: c.757 + 1G > T (chr11-823588, splice-5) on intron 6 and c.919delG (chr11-823854, p.A307Pfs*13) on exon 7. The patient improved limb strength, and dysarthria disappeared after the Medium Chain Fatty Acids diet. CONCLUSIONS: In conclusion, we report for the first time that the two heterozygous mutations PNPLA2 c.919delG and c.757 + 1G > T together induced NLSDM, which was confirmed by muscle biopsy.

Endovascular treatment without postoperative decompressive craniectomy in an acute stroke patient with very large ischemic infarct core: A case report and literature review.

Introduction: The benefits of endovascular treatment (EVT) on large ischemic infarct core mainly focus on a core size of 70-150 ml. The relationship between EVT and very large ischemic infarct core (>150 ml) is unclear. We herein present an acute stroke patient who achieved functional independence after EVT without postoperative decompressive craniectomy despite very large ischemic infarct core. Case report: A 50-year-old Asian male was admitted to our hospital with "sudden disturbance of consciousness with left limb weakness for 11 hours". The patient had a history of clipping treatment for ruptured aneurysms. After an emergency CTA and CTP, very large ischemic core of 190 ml and a mismatch ratio (Tmax > 6s volume/core volume) of 1.9 were shown in preoperative imaging. EVT was performed, and postoperative strict monitoring was conducted without decompressive craniectomy. The patient was discharged from the hospital on the 16th day, scoring 2 on the modified Rankin scale at a 2-year follow-up. Conclusion: Imaging suggests very large ischemic infarct core; if there is a substantial mismatch between major functional areas (large ischemic penumbra) and the patient is relatively young, aggressive EVT may be beneficial.

Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare. CASE PRESENTATION: In this study, we reported a plateau male worker of X-ALD characterized by progressive weakness accompanied by gait instability, mild nystagmus, and constipation. After 2 years of onset, a brain Magnetic Resonance Image (MRI) scan showed no abnormality but genetic analysis revealed a heterozygous mutation (c.1534G>A) in the ABCD1 gene. After 7 years of onset, although the patient was given aggressive dietary and symptomatic treatment in the course of the disease, a brain MRI scan showed predominantly brainstem damage, but serum concentrations of very long-chain fatty acids were normal, and he had been bedridden for almost 2 years with severe bladder dysfunction, forcing him to undergo cystostomy. The patient was discharged with improved urinary retention and renal function. CONCLUSIONS: We reported an X-ALD patient with a novel ABCD1 variation characterized by brainstem damage and retrospectively summarized the clinical manifestation, MRI features, and genetic features of X-ALD patients with brainstem damage.

Cerebral toxoplasmosis mimicking stroke in a woman living with undiagnosed HIV.

Toxoplasma gondii is an opportunistic pathogen that can intrude into the blood-brain barrier and reside in the brain only with low inflammatory reaction. When infected with HIV, the immune system becomes severely compromised and leads to the reactivation of latent toxoplasmosis infection, which can mimic the clinical manifestation of stroke. We report a case of a 65-year-old female patient who presented with sudden right limb weakness, walking difficulty, and numbness without other typical symptoms, raising suspicion of acute ischemic stroke. The HIV serology returned positive, which expedited the diagnostic workup for opportunistic infection. Combining imageological examination and metagenomics next-generation sequencing of cerebrospinal fluid, HIV-associated cerebral toxoplasmosis was confirmed. The patient underwent treatment for toxoplasmosis and HIV. Six months after onset, the patient can walk independently but still exhibits weakness in the right upper limb. In HIV-infected patients, cerebral toxoplasmosis, particularly presenting as isolated stroke-like episodes, poses a more significant challenge, emphasizing the need for more thorough investigations to reduce the potential for misdiagnosis.

Wernicke encephalopathy induced by glucose infusion: A case report and literature review.

Introduction: Wernicke encephalopathy (WE) is a potentially fatal condition caused by thiamine (vitamin B1) deficiency. Chronic alcoholism is the most common cause of WE; however, other conditions responsible for thiamine deficiency should also be considered. Case Report: We report the case of a 64-year-old woman with a history of diabetes who presented with confusion and apathy. Magnetic resonance imaging of the brain showed T2 hyperintensities involving dorsolateral medulla oblongata, tegmentum of the pons, vermis of the cerebellum, periaqueductal region, and the bilateral mammillary bodies. She had a history of intravenous glucose administration before her mental symptoms developed. On suspicion of WE, she was treated with a high dose of thiamine empirically. Her clinical condition improved rapidly in 2 weeks. Conclusion: Endogenous thiamine stores can be rapidly depleted in the case of enhanced glucose oxidation. Patients who receive glucose should also be prescribed thiamine to avoid inducing or exacerbating WE.

Sex difference in cerebral atherosclerotic stenosis in Chinese asymptomatic subjects.

Background and purpose: Sex difference in cerebral atherosclerosis has been noted in previous studies, but the precise characteristics remain incompletely elucidated. This study aims to identify the sex difference in patients with asymptomatic cerebrovascular stenosis. Materials and methods: The image and clinical data of 1305 consecutive patients who had head and neck computed tomography angiography (CTA) were collected. Fifty hundred and seventy-three patients (287 males) with asymptomatic atherosclerotic stenosis in cerebral arteries were finally included. The stenosis number, distribution, severity and their changes with age were analyzed and compared between males and females. Simple linear regression was used to assess the change in lesions with age. Results: A total of 2097 stenoses were identified in 573 patients, males had more stenoses than females (3 [2, 5] vs 3 [2, 4], p=0.015). The number of stenoses in extracranial arteries was much higher in males (p = 0.001). Females had higher percentage of stenosis in anterior (89.6% vs 85.9%, p = 0.012) and intracranial arteries (63.3% vs 57.1%, p = 0.004) than males. Males had higher percentage of moderate-severe stenosis (5.1% vs 3.2%, p = 0.026). Age (OR = 1.67; 95% CI 1.24-2.25; p < 0.001) and hypertension (OR = 2.53; 95% CI 1.24-5.15; p = 0.01) were associated with moderate-severe stenosis. In patients over 50 years old, the number of stenoses increased by 1.03 per 10 years (p < 0.001), with 0.72 more stenoses in males (p = 0.003). Conclusions: Cerebral atherosclerotic stenosis was different between sexes regarding the distribution, severity and the change pattern with age, which underline the sex specific management in patients with cerebral atherosclerosis.