brainstem syndromes

The diagnostic approach for patients with tremor is challenging due to the complex and overlapping phenotypes among tremor syndromes. The first step in the evaluation of tremor is to identify the tremulous movement and exclude the tremor mimics. The second step is to classify the tremor syndrome based on the characteristics of tremor from historical clues and focused examination (Axis 1). Comprehensive tremor examinations involve the assessment of tremor in different conditions (rest, action or mixed, position or task-specific), distribution of tremor (upper limb, lower limb, head, jaw), positive signs for functional tremor (FT) if suspected (distractibility, entrainment, co-contraction), and associated neurological signs including parkinsonism, dystonic posture, cerebellar/brainstem signs, neuropathy, and cognitive impairment...

BACKGROUND: MAPT variants are a known cause of frontotemporal dementia and Parkinsonian syndrome, of which progressive supranuclear palsy syndrome (PSP) is a rare manifestation. OBJECTIVE: To report a novel MAPT variant in a PSP pedigree with autosomal dominant inheritance pattern, and to produce a literature review of PSP patients with MAPT variants. METHODS: A comprehensive clinical, genetic, and molecular neuroimaging investigation was conducted on a 61 years-old female proband diagnosed with PSP...

We report a rare case of acute ischemic stroke from concurrent large vessel occlusions (LVOs) and subsequent successful mechanical thrombectomy revascularization in a patient with active coronavirus disease 2019 (COVID-19) pneumonia. A 59-year-old woman presented to the emergency department after one week of intermittent chest pain, dyspnea, and diarrhea found to have COVID-19 pneumonia. On hospital day three, the patient developed acute altered mental status and hemiparesis with a National Institutes of Health Stroke Scale (NIHSS) of 22...

Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome characterized by the development of both central and peripheral nervous system tumors. Low-grade glioma (LGG) is the most prevalent central nervous system tumor occurring in children with NF1, arising most frequently within the optic pathway, followed by the brainstem. Historically, treatment of NF1-LGG has been limited to conventional cytotoxic chemotherapy and surgery. Despite treatment with chemotherapy, a subset of children with NF1-LGG fail initial therapy, have a continued decline in function, or recur...

Open spina bifida, also known as myelomeningocele (MMC), is the most challenging and severe birth defect of the central nervous system compatible with life and it is due to a failure in the dorsal fusion of the nascent neural tube during embryonic development. MMC is often accompanied by a constellation of collateral conditions, including hydrocephalus, Arnold - Chiari II malformation, brainstem disfunction, hydrosyringomyelia, tethered cord syndrome and scoliosis. Beyond early surgical repair of the dorsal defect, MMC requires lifelong cares...

AIM: Leigh syndrome (LS), the most common paediatric presentation of genetic mitochondrial dysfunction, is a multi-system disorder characterised by severe neurologic and metabolic abnormalities. Symmetric, bilateral, progressive necrotizing lesions in the brainstem are defining features of the disease. Patients are often symptom free in early life but typically develop symptoms by about 2 years of age. The mechanisms underlying disease onset and progression in LS remain obscure...

Oxidative phosphorylation involves a complex multi-enzymatic mitochondrial machinery critical for proper functioning of the cell, and defects herein cause a wide range of diseases called "primary mitochondrial disorders" (PMDs). Mutations in about 400 nuclear and 37 mitochondrial genes have been documented to cause PMDs, which have an estimated birth prevalence of 1:5000. Here, we describe a 4-year-old female presenting from early childhood with psychomotor delay and white matter signal changes affecting several brain regions, including the brainstem, in addition to lactic and phytanic acidosis, compatible with Leigh syndrome, a genetically heterogeneous subgroup of PMDs...

A 40-year-old woman presented with mediastinitis, necrotizing pancreatitis, and severe acute respiratory distress syndrome with refractory acidemia (pH 7.14) and hypercapnia (PaCO2 115 mmHg), requiring veno-venous extracorporeal membrane oxygenation (ECMO). Eight hours after cannulation, and rapid correction of PaCO2 to 44 mmHg, she was found to have bilaterally fixed and dilated pupils. Imaging showed a 60 mL left-sided temporoparietal intracranial hemorrhage with surrounding edema, 8 mm midline shift, intraventricular hemorrhage, and impending herniation...

Lateral medullary syndrome is a common presentation of posterior circulation ischemia that presents with ipsilateral Horner syndrome, ipsilateral facial numbness, contralateral body numbness, vestibular symptoms, ataxia, dysphagia, and dysarthria. Here, we describe an 84-year-old who presented to the hospital with right upper motor neuron facial weakness and gait abnormality found to have a right lateral medullary ischemic stroke. Multiple MRI's, including with thin brainstem slices, were without evidence of pontine, midbrain or cerebral ischemia outside the medulla...

Progressive supranuclear palsy is a neurodegenerative disease characterized by the deposition of four-repeat tau in neuronal and glial lesions in the brainstem, cerebellar, subcortical and cortical brain regions. There are varying clinical presentations of progressive supranuclear palsy with different neuroimaging signatures, presumed to be due to different topographical distributions and burden of tau. The classic Richardson syndrome presentation is considered a subcortical variant, whilst progressive supranuclear palsy with predominant speech and language impairment is considered a cortical variant, although the pathological underpinnings of these variants are unclear...

BACKGROUND: Bickerstaff brainstem encephalitis (BBE) is a rare disease considered caused by acute demyelination of the brainstem, most often resulting from secondary autoimmune responses. To our knowledge, this is the first probable case report of shingles-associated BBE with anti-sulfatide IgM positivity. CASE PRESENTATION: We report the case of an 83-year-old woman with symptoms of progressive limb weakness, difficulty swallowing food, and disturbed consciousness that occurred 4 weeks following herpes zoster infection...

Rett syndrome (RTT) is a neurodevelopmental disorder that is caused by loss-of-function mutations in the methyl-CpG binding protein 2 ( MeCP2 ) gene. RTT patients experience a myriad of debilitating symptoms, which include respiratory phenotypes that are often associated with lethality. Our previous work established that expression of the M 1 muscarinic acetylcholine receptor (mAchR) is decreased in RTT autopsy samples, and that potentiation of the M 1 receptor improves apneas in a mouse model of RTT; however, the population of neurons driving this rescue is unclear...

INTRODUCTION: Anti-sulfatide antibodies are key biomarkers for the diagnosis of Guillain-Barré syndrome (GBS). However, case reports on anti-sulfatide antibody-related GBS are rare, particularly for atypical cases. CASE DESCRIPTION CASE 1: A 63 years-old man presented with limb numbness and diplopia persisting for 2 weeks, with marked deterioration over the previous 4 days. His medical history included cerebral infarction, diabetes, and coronary atherosclerotic cardiomyopathy...

PURPOSE: This article presents a comprehensive exploration of neurovascular anatomy of the encephalon, focusing specifically on the intricate network within the posterior circulation and the posterior fossa anatomy; enhancing understanding of its dynamics, essential for practitioners in neurosurgery and neurology areas. METHOD: A profound literature review was conducted by searching the PubMed and Google Scholar databases using main keywords related to neurovascular anatomy...

Dengue is a systemic viral infection, and clinical findings vary from asymptomatic to life-threatening, including shock and neurological complications. Despite efforts in vector control, the disease continues to spread worldwide, and the number of annual dengue infections is estimated to be 390 million. For patients with severe dengue, early diagnosis is important; however, owing to the wide range of symptoms and severity, diagnosis can be difficult. Herein, we report the case of a 24-year-old man from Vietnam who was found to have dengue shock syndrome complicated by meningoencephalitis, even though he did not show the typical clinical manifestations of dengue infection...

UNLABELLED: Paediatric acquired demyelinating syndrome(ADS) constitute group of treatable disorders with acute neurologic dysfunction. Neuroimaging has played significant role in diagnosis of ADS. We describe clinico-radiologic spectrum, outcome and compare the groups Acute disseminated encephalomyelitis (ADEM), Neuromyelitis-optica-spectrum disorder (NMOSD), clinically-isolated-syndrome (CIS), Multiple sclerosis (MS) and Myelin-oligodendrocyte-glycoprotein antibody associated disorders (MOGAD)...

UNLABELLED: Cardiovascular diseases and diabetes mellitus, debuting as arterial hypertension (AH) syndrome and prediabetes, are common types of chronic non-communicable processes, that are the leading cause of death in the world. The main treatment method for above mentioned disorders, according to the current guidelines, is pharmacotherapy. However, it is possible to effectively apply non-pharmacological correction methods, aimed at the probable etiological factor and inversive mechanism involved in AH maintenance, in the early stages when no permanent changes are maintaining a high level of blood hypertension (BH) and glycemia...

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a recently described chronic inflammatory central nervous system disease. This case report describes a young female patient presenting with weakness in bilateral upper and lower limbs and tinnitus for 2 months. A neurological examination revealed signs of brainstem and cerebellar involvement. MRI brain showed characteristic features of CLIPPERS, with punctate and nodular enhancement in the pons and cerebellum...

BACKGROUND: Pathogenic variants in the NDUFV1 gene disrupt mitochondrial complex I, leading to neuroregression with leukoencephalopathy and basal ganglia involvement on neuroimaging. This study aims to provide a concise review on NDUFV1-related disorders while adding the largest cohort from a single center to the existing literature. METHODS: We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explored reported instances in existing literature...

BACKGROUND: MAPT is a causative gene in frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), a hereditary degenerative disease with various clinical manifestations, including progressive supranuclear palsy, corticobasal syndrome, Parkinson's disease, and frontotemporal dementia. OBJECTIVES: To analyze genetically, biochemically, and pathologically multiple members of two families who exhibited various phenotypes of the disease. METHODS: Genetic analysis included linkage analysis, homozygosity haplotyping, and exome sequencing...