episodic weakness syndrome

BACKGROUND: This report delves into the diagnostic and therapeutic journey undertaken by a patient with Sneddon's syndrome (SS) and cerebral venous sinus thrombosis (CVST). Particular emphasis is placed on the comprehensive elucidation of SS's clinical manifestations, the intricate path to diagnosis, and the exploration of potential underlying mechanisms. CASE SUMMARY: A 26-year-old woman presented with recurrent episodes of paroxysmal unilateral limb weakness accompanied by skin mottling, seizures, and cognitive impairment...

This report describes a patient who developed recurrent hypoglycemia episodes after 23 days of antiplatelet therapy with clopidogrel for left subclavian artery stent implantation. The patient suffered from palpitation, profuse sweating and weakness on the 23rd day of clopidogrel treatment. The minimum plasma glucose was 2.2 mmol/L, and the hypoglycemia was associated with significantly elevated levels of insulin. A diagnosis of insulin autoimmune syndrome (IAS) was made with the presence of insulin autoantibody and a comprehensive differential diagnosis of other conditions related with hypoglycemia...

A 36-year-old woman complained of bilateral lower limb weakness for the last 3 days. She could move her upper limb, neck, and facial muscles and had no respiratory or swallowing difficulties. About 4 years ago, she complained of sudden weakness involving her lower limbs. Two years later, she had another episode involving only the right upper limb. In both cases, she was hypokalemic and received oral and intravenous potassium. She is a known diabetic and has polycystic ovary disease. Her blood pressure was 150/100 mm Hg, and body mass index was 29...

OBJECTIVE: To analyze the clinical and genetic characteristics of a patient with long QT syndrome type 14 (long QT syndrome-14, LQT14, OMIM # 616247) caused by a de novo CALM1 mutation. METHODS: The clinical data of the patient were collected, next-generation sequencing technology was used to determine the exome gene sequence of the patient, and the suspected pathogenic locus was verified by Sanger sequencing. RESULTS: A 5-year and 9-month-old girl was admitted to the hospital due to a syncopal episode...

INTRODUCTION AND IMPORTANCE: SARS-CoV-2 infection, besides respiratory symptoms, as cardinal manifestation, may present with neurological involvement. Immune-mediated polyradiculoneuropathy is one of the important neurological complications manifested by COVID-19 mainly includes Guillain-Barré syndrome (GBS), treatment-related fluctuation of GBS, and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Also, there are several reports of COVID-19 vaccine-related GBS and CIDP...

OBJECTIVE: Stiff Person Syndrome (SPS) is a rare autoimmune disorder that affects approximately one in every million people. It is characterized by progressive muscle rigidity and intense, episodic muscle spasms triggered by environmental and psychosocial (i.e., emotional stress) factors. While original diagnostic criteria for classical SPS included the absence of frank cognitive impairment (aside from what would be expected from seizures), more recent literature suggests a number of neurocognitive difficulties potentially associated with reduced GABA levels...

OBJECTIVE: Major neurocognitive Disorder (NCD) is a largely heterogeneous condition with numerous etiological possibilities. Most diagnosed cases have unspecified origins. As such, Fahr's syndrome (FS) is a rare neurodegenerative condition that clinically presents with varying neurologic, neuropsychiatric, and movement disorder features. FS is characterized by bilateral basal ganglia calcifications secondary to other conditions (e.g., endocrine and metabolic disorders, infectious diseases)...

We report a case of a 32-year-old lady who was admitted to the hospital with right-sided weakness that preceded an episode of seizure. On the day of admission, she woke up early in the morning with mild right-sided weakness and numbness. She had difficulty walking and later had a seizure, which was witnessed by her son. She had no signs of infection prior to this. She had no fever, chest or abdominal pain, or urinary symptoms. In the emergency department, she complained of left-sided chest tightness and heaviness, which lasted for a few minutes with associated tachycardia, electrocardiogram (ECG) was consistent with Brugada syndrome type 2...

BACKGROUND: Capsular warning syndrome (CWS) is a rare clinical syndrome characterised by recurrent and transient episodes of focal neurological deficits with high risk of infarction. The exact physiological mechanism of CWS remains unclear but is most commonly believed to be a result of haemodynamic insufficiency in diseased, small penetrating vessels. There are no defined treatment guidelines or established effective therapy. CASE PRESENTATION: We describe the case of a 65-year-old man who presented to the emergency department with recurrent episodes of dysarthria coupled with right facial droop and right-sided weakness...

Celiac plexus blocks have been utilized to treat chronic abdominal pain of various etiologies that are refractory to medication management. This procedure is considered relatively safe; however, one rare complication is anterior spinal artery syndrome, which can result in temporary or permanent paralysis of the lower extremities. A 67-year-old male with a history of metastatic esophageal adenocarcinoma and chronic pain refractory to high doses of opioids presented for a celiac plexus neurolytic block. The block was performed successfully with a test block containing 2% lidocaine and 0...

BACKGROUND: There are some cases of Klippel-Feil syndrome with spinal cord injury in clinical work. However, there is no literature report on Brown-Sequard syndrome after trauma. We report a case of Brown-Sequard syndrome following minor trauma in a patient with KFS type III. Her Brown-Sequard syndrome is caused by Klippel-Feil syndrome. CASE PRESENTATION: We found a 38-year-old female patient with KFS in our clinical work. She was unconscious on the spot following a minor traumatic episode...

BACKGROUND: A subacute manifestation of muscle weakness in temporal association with a diarrheal intestinal infection is always suspicious of Guillain-Barré syndrome (GBS). GBS is characterized as an acute inflammatory polyneuroradiculopathy, mediated by cross-reacting autoantibodies and typically triggered by various infections, vaccinations or other causes. Hyponatremia can be associated with GBS and is usually seen in more severe cases. However, the presence of relevant hyponatremia in a case suspicious of GBS can lead to a diagnostic dilemma...

Complex regional pain syndrome (CRPS) is a systemic or regional pain pathology associated with the nondermatomal or dermatomal distribution of excruciating intolerable pain, which might be triggered by an insignificant or weak stimulus or sometimes without any. Its symptoms encompass neurological, musculoskeletal, dermatological, and vascular realms. It is usually preceded by an episode of nerve injury or intervention set in numerous circumstances ranging from trauma to surgeries to chronic diseases. CRPS has been shrouded in a veil of mystery  and was called a psychological  phenomenon without any proper organic basis when it was described by Ambroise Pare initially...

Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. The periodic paralysis conditions include hypokalemic periodic paralysis, hyperkalemic periodic paralysis, and Andersen-Tawil syndrome. Clinical history is key, and diagnosis is confirmed by next-generation genetic sequencing of a panel of known genes but can also be supplemented by neurophysiology studies and MRI...

BACKGROUND: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. METHODS: We report the clinical phenotype of two children with TANGO2 deficiency disorder. RESULTS: Patient 1 is a female child presenting with developmental delay and microcephaly during the second year of life, who evolved with severe cognitive impairment, facial dysmorphisms, spastic paraparesis, and atonic seizures...

INTRODUCTION/AIMS: The periodic paralyses are muscle channelopathies: hypokalemic periodic paralysis (CACNA1S and SCN4A variants), hyperkalemic periodic paralysis (SCN4A variants), and Andersen-Tawil syndrome (KCNJ2). Both episodic weakness and disabling fixed weakness can occur. Little literature exists on magnetic resonance imaging (MRI) in muscle channelopathies. We undertake muscle MRI across all subsets of periodic paralysis and correlate with clinical features. METHODS: A total of 45 participants and eight healthy controls were enrolled and underwent T1-weighted and short-tau-inversion-recovery (STIR) MRI imaging of leg muscles...

BACKGROUND: Parsonage-Turner syndrome (PTS) is an underdiagnosed disorder characterized by the acute onset of severe pain in the shoulder/scapula/arm followed by muscle weakness/numbness in the distribution of nerves derived from the brachial plexus (BP). Surgical procedures are one of several antecedent events of PTS. This study describes the clinical spectrum of postsurgical Parsonage-Turner syndrome (PSPTS) in a large cohort of patients. MATERIALS AND METHODS: Charts of patients diagnosed with PTS during a 16-year (2006-2022) retrospective review were analyzed to identify cases of PSPTS...

Increasingly complex and constantly emerging cancer treatment protocols are associated with kidney toxicities. Data clearly demonstrate that when patients with cancer develop acute or chronic kidney disease, severe fluid and electrolyte abnormalities, outcomes are inferior, and the promise of curative therapeutic regimens is lessened. We present a case of a 74-year-old woman with metastatic, recurrent ER+/PR-/HER2+ invasive ductal carcinoma of the right breast, status post bilateral mastectomies, chemotherapy, radiation therapy, and hormonal therapies, who were clinically stable on Trastuzumab/Pertuzumab maintenance for about a year...

Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy. A 66-year-old man presented with a 60-year history of episodic weakness in the proximal muscles of the upper and lower limbs. The man has been diagnosed with muscle pathology and has undergone genetic examinations in many hospitals since childhood. We conducted a correct diagnosis in combination with the patient's history, electrical physiology, and genetic analysis and identified a heterozygous KCNJ2 gene variant (c...

BACKGROUND AND PURPOSE: Defects in the mitochondrial respiratory chain (MRC) can lead to combined MRC dysfunctions (COXPDs) with heterogenous genotypes and clinical features. We report a patient carrying heterozygous variants in the TUFM gene who presented with clinical features compatible with COXPD4 and radiological findings mimicking multiple sclerosis (MS). METHODS: A 37-year-old French Canadian woman was investigated for recent onset of gait and balance problems...