case history in neurology

Leukoencephalopathy (LE), characterized by structural changes affecting cerebral white matter, presents a complex clinical picture with diverse etiologies. This case report details the presentation, clinical findings, and physiotherapy management of a 32-year-old female with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy and a history of diabetes and hypertension. She suddenly stopped her medications, which led to the worsening of her condition. She presented with symptoms of headache, slurred speech, visual disturbances, cognitive impairment, and impaired balance and coordination, due to which her activities of daily living were affected...

Over the last years, new evidence has accumulated on multiple aspects of diagnosis and management of cerebral venous and dural sinus thrombosis (CVT) including identification of new risk factors, studies on interventional treatment as well as treatment with direct oral anticoagulants. Based on the GRADE questions of the European Stroke Organization guideline on this topic, the new German guideline on CVT is a consensus between expert representatives of Austria, Germany and Switzerland. New recommendations include:• CVT occurring in the first weeks after SARS-CoV-2 vaccination with vector vaccines may be associated with severe thrombocytopenia, indicating the presence of a prothrombotic immunogenic cause (Vaccine-induced immune thrombotic thrombocytopenia; VITT)...

The sellar region, though uncommon for metastatic spread, may become more prevalent due to longer survival of patients with metastatic malignancies. Compression of adjacent vital anatomy can cause disabling symptoms and endocrine disturbances, leading to significant morbidity METHODS: This study analyzed sellar pathologies treated via endonasal approach from January 2011 to December 2021 to assess the incidence of sellar metastases. Patient demographics, presenting symptoms, radiological and histological findings, management, and outcomes were evaluated RESULTS: Among 334 patients treated during the study period, eight (2...

INTRODUCTION: Iatrogenic botulism is a rare, serious disease that progresses with descending paralysis and develops after cosmetic or therapeutic botulinum toxin-A (BoNT-A) application. CASE PRESENTATIONS: In this case series; six cases of iatrogenic botulism followed up in our center are presented. Four of these developed after gastric BoNT-A and two after axillary BoNT-A application. RESULTS: The most important cause for the disease was the use of unlicensed products and high-dose toxin applications...

BACKGROUND: Immune checkpoint inhibitors (ICI)-induced myasthenia gravis (MG) is an uncommon but potentially fatal neurotoxicity. We aim to help physicians familiarize themselves with the clinical characteristics of ICI-induced MG, facilitating early diagnosis and prompt intervention. METHODS: We searched the Chinese People's Liberation Army General Hospital medical record system from January 2017 to August 2023 for patients diagnosed with ICI-induced MG. We systematically reviewed the literature until August 2023 to identify all similar patients...

To external validate the risk assessment model (RAM) of venous thromboembolism (VTE) in multicenter internal medicine inpatients. We prospectively collected 595 internal medical patients (310 with VTE patients, 285 non-VTE patients) were from Beijing Shijitan Hospital, Beijing Chaoyang Hospital, and the respiratory department of Beijing Tsinghua Changgeng Hospital from January 2022 to December 2022 for multicenter external validation. The prediction ability of Caprini RAM, Padua RAM, The International Medical Prevention Registry on Venous Thromboembolism (IMPROVE) RAM, and Shijitan (SJT) RAM were compared...

Occupational exposure to manganese (Mn) primarily occurs through the inhalation of manganese-containing fumes and dust, with welding environments being significant sources of such exposure. Elevated levels of Mn in welding fumes can lead to a neurological syndrome known as manganism. A 28-yr-old male welder with 14 yr of experience, is presenting with complaints of forgetfulness, reasoning disorder, and decreased mental functions persisting for 10 yr. Three months ago, when he started working at the new workplace, he underwent employment screening conducted by the workplace physician...

A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history. On examination, he had a spastic paraparesis. Imaging revealed atrophy of the thoracic spine. Lumbar puncture demonstrated a raised protein but other constituents were normal, including no presence of oligoclonal bands...

Epstein-Barr virus (EBV) infection has been advocated as a prerequisite for developing multiple sclerosis (MS) and possibly the propagation of the disease. However, the precise mechanisms for such influences are still unclear. A large-scale study investigating the host genetics of EBV serology and related clinical manifestations, such as infectious mononucleosis (IM), may help us better understand the role of EBV in MS pathogenesis. This study evaluates the host genetic factors that influence serological response against EBV and history of IM and cross-evaluates them with MS risk and genetic susceptibility in the Swedish population...

Hypothermia is defined as a significant drop in core body temperature below 35°C (95°F). It is traditionally staged as mild, moderate, severe, and profound at temperatures of 35°C to 32°C (95°F to 89.6°F), 32°C to 28°C (89.6°F to 82.4°F), <28°C (<82.4°F), and <24°C (75.2°F), respectively. It can also be classified into the same stages by clinical presentations. We present a patient that fits into two different stages based on core body temperature and clinical presentation...

BACKGROUND: The Klippel-Feil syndrome (KFS) is a rare congenital anomaly characterized by the fusion of cervical vertebrae, which may be associated with other malformations, such as dermoid tumors and teratoma. Some theories explain the embryology of these associations. Another condition that may be present is the dermal sinus (DS), communication between intracranial tumors and the subcutaneous tissue, and predisposing infections. This case report aims to describe an association between these three pathologies as well as correlate them from the literature...

BACKGROUND: Deep brain stimulation (DBS) has consistently demonstrated high efficacy and safety in patients with Parkinson's disease. Twiddler's syndrome is a rare occurrence of hardware failure in patients undergoing neuromodulation. We report here a case of subclinical cable twisting jeopardizing Twiddler's syndrome in a patient with Parkinson's disease who underwent DBS surgery targeting the globus pallidus internus (GPI). CASE DESCRIPTION: A 70-year-old woman with a 7-year history of Parkinson's disease refractory to medication was referred to our department for treatment of involuntary movements of the left hand and leg...

BACKGROUND: Primary extranodal marginal zone mucosa-associated lymphoid tissue-type B-cell lymphoma (EMZMBCL), which presents as a dural mass, is a rare intracranial tumor that mimics a subdural hematoma or meningioma. CASE DESCRIPTION: A 49-year-old woman presented to our hospital with transient right upper limb paresis, dysarthria for 10 min, and ongoing right upper-limb numbness. Computed tomography (CT) of the head revealed extra-axial lesions in the left frontal and parietal lobes...

Multiple sclerosis (MS) is the most common demyelinating disease affecting the central nervous system. It has a wide range of manifestations and commonly affects the visual system. Many patients with MS report decreased vision, diplopia, nystagmus, and abnormal ocular motility. Nevertheless, bilateral horizontal gaze palsies are exceptionally rarely seen. We present the case of a 24-year-old female who came to our pediatric ophthalmology clinic complaining of bilateral horizontal gaze palsy, photophobia, and eye pain for 2 days...

Serotonin syndrome (SS) is a drug-induced clinical syndrome characterised by a combination of cognitive, neuromuscular and autonomic dysfunctions. The symptoms may include mild non-specific symptoms such as tremors and diarrhoea to coma and sudden death. Herein, we describe a case of SS in which acute dizziness was associated with supine hypertension and orthostatic hypotension. A man in his mid-30s had a 10-month history of anxiety, depression and chronic tension-type headache. He had been on amitriptyline (25 mg daily) and sertraline (50 mg daily)...

BACKGROUND: Ventriculoperitoneal shunt (VPS) represents one of the most classic and widely used treatments for hydrocephalus in pediatric patients. Migration and externalization of the distal end of the catheter through the rectum are extremely rare complications of intestinal perforation with devastating consequences such as meningitis or peritonitis due to enteric bacteria that are significantly life-threatening. Besides, one of the biggest topics with that is that it can happen without producing symptoms, like the patient we present in this case report, which further masks the condition and puts the patient's life more at risk...

Neurocysticercosis is a rarely diagnosed but significant clinical problem from infestation with taenia solium. It occurs as a result of ingestion of infested pork and the mode of transmission is usually feco-oral. It is commonly associated with non-specific neurologic manifestations expected of intracranial space-occupying lesions with its most common neurological presentation being seizures. However, its diagnosis without seizure is rarely reported. We report a recent experience in this regard and outcome of this disease which was inadvertently managed surgically...

Carcinomatous meningitis (CM) is characterized by the multifocal dissemination of malignant cells into the cerebrospinal fluid (CSF), pia mater, and subarachnoid space. Involvement can occur in the advanced stage of malignancy, causing multifocal involvement and a wide array of symptoms. Diagnosis requires suspicions and a multimodal approach that includes imaging, lumbar puncture, and diagnostic laboratory evaluation. This case represents a female with a history of non-Hodgkin's lymphoma (NHL) and venous thromboembolism on chronic anticoagulation who presented due to acute encephalopathy, hallucinations, and right cranial nerve III palsy for 10 days before arrival...

Intradural Extraosseous Ewing sarcoma (IEES) is an infrequent occurrence. We report a case of a 66-year-old male who presented with a 2-month history of low back pain and bilateral S1 sciatica, with acute sphincter dysfunction. Imaging studies revealed an intradural extramedullary lesion in the cauda equina spanning from level L4 to S1. The patient underwent partial removal of the intradural lesion. Histopathological examination showed the presence of small round cells, which were consistent with Ewing Sarcoma...

BACKGROUND: The primary intracranial peripheral primitive neuroectodermal tumor (pPNET) is a lesion subtype within the Ewing sarcoma family of tumors. pPNETs are extremely uncommon pathologies, accounting for 0.03% of intracranial tumors and 1% to 2% of Ewing sarcoma cases. Given its histological aspect similar to other highly proliferative malignant neuroectodermal neoplasms, pPNET merits extensive workup for accurate diagnosis and treatment. OBSERVATIONS: A 36-year-old male presented to the emergency department with a 1-year history of headaches in the right frontoparietal area, generalized tonic-clonic seizures, and a history of the resection of a tumor labeled as a meningioma 5 years before admission...