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Cureus Mar 2023Lumbosacral plexopathy (LSP) encompasses a group of disorders affecting post-ganglionic fibers derived from the L1-S4 roots. The differential diagnosis is challenging...
Lumbosacral plexopathy (LSP) encompasses a group of disorders affecting post-ganglionic fibers derived from the L1-S4 roots. The differential diagnosis is challenging and includes other neuropathies of medullary, radicular, or peripheral origin. Defining the etiology is equally crucial, as LSP management relies on its cause. A thorough clinical history should address potential neoplastic disease (new-onset, progression, or relapse), diabetes mellitus, lumbar or pelvic trauma, and previous exposure to radiation. This is the case of a 78-year-old male, with a history of prostatic adenocarcinoma, treated with image-guided radiation therapy and hormone therapy five years before, with no evidence of relapse on follow-up. The patient presented with bilateral weakness, numbness, and paresthesia of lower limbs, gradually progressing over a three-month period, and followed by an acute worsening with inability to stand or walk. He also referred to distal mild edema, episodic hematuria, and urinary incontinence. Physical examination revealed paraparesis affecting proximal and distal leg muscles, along with bilateral hypoesthesia, impaired deep tendon reflexes, and proprioception below knee level. Pelvic, dorsal, and lumbosacral MRI excluded neoplastic lesions but identified somatic fracture of L5 without medullary or conus medullaris compromise. These findings did not explain the clinical picture. Further neurophysiologic studies characterized sensory-motor deficits as post-ganglionic, with specific spontaneous discharges of the muscle fibers, known as myokymia. These findings were consistent with radiation-induced LSP and were supported by MRI. Radiation-induced cystitis was also documented in pelvic MRI and urethral cystoscopy. This case highlights the clinical picture and differential diagnosis of radiation-induced LSP. Despite more typical symptoms and course, a neoplastic origin should always be carefully investigated and excluded. Radiation protocol should be carefully accessed, and its complications should not be overlooked, as they might cause severe morbidity.
PubMed: 37123691
DOI: 10.7759/cureus.36842 -
Movement Disorders Clinical Practice Jan 2023
PubMed: 36988999
DOI: 10.1002/mdc3.13602 -
Clinical Case Reports Mar 2023A 57-year-old man had trigeminal schwannoma in Meckel's cave with eyelid myokymia only. The evaluation of the trigeminal-evoked blink reflex was useful for confirming...
A 57-year-old man had trigeminal schwannoma in Meckel's cave with eyelid myokymia only. The evaluation of the trigeminal-evoked blink reflex was useful for confirming eyelid myokymia and contributed to surgical decision-making. In patients with persistent eyelid myokymia, neurophysiological and imaging evaluations may be useful for determining the underlying pathophysiology.
PubMed: 36937635
DOI: 10.1002/ccr3.7086 -
Journal of Neurosciences in Rural... 2022Morvan's syndrome is a rare anti-contactin-associated protein-like 2 (CASPR2) antibody-mediated autoimmune disorder. The clinical features of this syndrome include...
Morvan's syndrome is a rare anti-contactin-associated protein-like 2 (CASPR2) antibody-mediated autoimmune disorder. The clinical features of this syndrome include muscular twitching, insomnia, dysautonomia, peripheral nerve hyperexcitability, and fluctuating delirium. An underlying tumor is commonly found among Morvan's syndrome cases, with thymoma being the most frequent association. We describe an unusual case of a 39-year-old female with excruciating bilateral leg pain, insomnia, hyperhidrosis, peripheral nerve hyperexcitability, serum anti-CASPR2 antibody positivity, and a solid pseudopapillary tumor of the pancreas on histopathology. Furthermore, the patient's symptoms improved after receiving intravenous immunoglobulin (0.4 g/kg per day for 5 days). To the best of our knowledge, this is the first case of Morvan syndrome associated with a solid pseudopapillary pancreatic tumor to be reported in the literature to date. Our case adds to the spectrum of malignancies that are associated with Morvan's syndrome. The recognition of this rare syndrome and its various associations are important for the neurologist, as it is a potentially treatable condition.
PubMed: 36743755
DOI: 10.25259/JNRP-2022-3-49 -
Cureus Nov 2022Acetazolamide, a carbonic anhydrase inhibitor, is primarily used in the treatment of glaucoma, due to its role in decreasing intraocular pressure by lowering the...
Acetazolamide, a carbonic anhydrase inhibitor, is primarily used in the treatment of glaucoma, due to its role in decreasing intraocular pressure by lowering the production of aqueous humor. Additionally, by lowering cerebrospinal fluid (CSF) production, it is also used in the treatment of raised intracranial pressure. Drug-induced myokymia has rarely been reported, with known triggers being clozapine, gabapentin and flunarizine, and topiramate. Acetazolamide-induced myokymia itself has only been reported once before, to the best of our knowledge, and the exact mechanism behind this occurrence remains unknown. We, therefore, report a rare case of periorbital myokymia induced by the use of acetazolamide in a patient diagnosed with idiopathic intracranial hypertension. The nature of her symptoms was significant, as they caused her considerable distress, and subsided almost immediately upon discontinuation of the drug.
PubMed: 36579233
DOI: 10.7759/cureus.31920 -
Annals of Indian Academy of Neurology 2022Myokymia is a rare neuromuscular disorder and limb involvement is not common in this disease. To the best of our knowledge, isolated peroneus longus muscle myokymia was...
Myokymia is a rare neuromuscular disorder and limb involvement is not common in this disease. To the best of our knowledge, isolated peroneus longus muscle myokymia was not reported before in the literature; and for that reason treatment protocols were not established. Botulinum toxin type A (BoNT-A), which is used in the treatment of a variety of neurologic disorders, was also defined as a treatment option in myokymia. Herein, we will report three cases of peroneus longus muscle myokymia in children in the absence of any other neurological findings, and the successful results of treatment with local BoNT-A injections. BoNT-A is a safe and effective treatment in myokymia when administered by an experienced clinician and should always be considered when the disorder is persistent and affecting the life of the patient.
PubMed: 36561037
DOI: 10.4103/aian.aian_293_22 -
Neurology Feb 2023
Topics: Humans; Myokymia; Tongue; Electromyography
PubMed: 36446596
DOI: 10.1212/WNL.0000000000201607 -
Journal of Veterinary Internal Medicine Jan 2023In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration.
BACKGROUND
In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration.
HYPOTHESIS/OBJECTIVES
Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed.
ANIMALS
Five affected Bouvier des Ardennes puppies with spinocerebellar ataxia (SCA), 8 healthy related dogs, and 63 healthy unrelated Bouvier des Ardennes.
METHODS
Sequential case study.
RESULTS
Clinical signs started at 6 weeks of age in 1 puppy with severe signs of cerebellar disease, and at 7 to 10 weeks of age in the 4 remaining puppies with milder signs of spinocerebellar disease. The first puppy displayed severe intention tremors and rapidly progressive generalized hypermetric ataxia, whereas the 4 others developed a milder progressive SCA. Euthanasia after progression to nonambulatory status was performed by 8 weeks of age in the first puppy, and before 11 months of age in the 4 remaining puppies. Histopathology revealed cerebellar spongy degeneration and a focal symmetrical demyelinating myelopathy. All cases were homozygous for KCNJ10 XM_545752.6:c.986T>C(p.(Leu329Pro)), which is pathogenic for SCA with (or without) myokymia, seizures or both (SAMS) and spongy degeneration and cerebellar ataxia (SDCA) 1 in Belgian Malinois dogs. All sampled parents were heterozygous and none of the healthy dogs were homozygous for this recessive variant. This variant has an allele frequency of 15% in the 63 healthy dogs studied.
CONCLUSIONS AND CLINICAL IMPORTANCE
Inherited spinocerebellar degeneration also affects the Bouvier des Ardennes breed and is caused by a KCNJ10 variant. It can present with a spectrum of severity grades, ranging from severe cerebellar to milder spinocerebellar signs.
Topics: Dogs; Animals; Spinocerebellar Ataxias; Cerebellar Ataxia; Spinocerebellar Degenerations; Mutation, Missense; Homozygote; Dog Diseases
PubMed: 36426918
DOI: 10.1111/jvim.16594 -
SAGE Open Medical Case Reports 2022Myokymia is defined as fluctuating hyperexcitability of muscle fibers caused by repetitive spontaneous contraction of motor units. Myokymia is generally benign with...
Myokymia is defined as fluctuating hyperexcitability of muscle fibers caused by repetitive spontaneous contraction of motor units. Myokymia is generally benign with self-resolution, although symptomatic treatment with benzodiazepines, anticonvulsants, and muscle relaxants can be used. Botulinum toxins can also be utilized, although they are mostly used for symptomatic facial myokymia. Here, we report two patients who developed continuous myokymia, resulting in secondary hypertrophy, stiffness, and discomfort in the affected muscles. The first patient had a history of a tethered spinal cord and developed continuous myokymia in the S1 and S2 radicular regions of the left leg. The second patient underwent radiation therapy for lung cancer and developed brachial plexopathy with abnormal activity in the muscles supplied by the musculocutaneous nerve in the right arm. Both patients experienced sleep disturbance, focal discomfort, and restlessness. The anticonvulsants and muscle relaxants were ineffective. Chemodenervation with botulinum A toxin was initiated using either onabotulinumtoxinA or abobotulinumtoxinA. Both patients experienced a substantial reduction in myokymia, with ongoing reversal of muscle hypertrophy and significant improvement in reported subjective symptoms. Treatment with botulinum toxins can be highly effective in patients with symptomatic segmental continuous hypertrophic myokymia and may be considered first-line therapy.
PubMed: 36406303
DOI: 10.1177/2050313X221137214