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BMC Neurology May 2021Morvan syndrome (MoS) is a rare autoimmune syndrome associated with antibodies against two kinds of potassium channel proteins, contactin associated protein-like 2...
BACKGROUND
Morvan syndrome (MoS) is a rare autoimmune syndrome associated with antibodies against two kinds of potassium channel proteins, contactin associated protein-like 2 (CASPR2) and leucine-rich glioma inactivated protein 1 (LGI1). MoS patients with only LGI1-antibody seropositivity have rarely been reported. Here, we describe a 64-year-old male MoS patient with only LGI1-antibody seropositivity.
CASE PRESENTATION
A 64-year-old male patient was referred to our hospital due to limb pain, widespread myokymia, insomnia, constipation, and hyperhidrosis for 1 month. The patient was diagnosed with MoS based on the clinical symptoms and positive LGI1-antibody in serum. He was treated with intravenous immunoglobulin (IVIG), intravenous methylprednisolone followed by oral prednisone, and other drugs for symptomatic relief. Several days later, myokymia and insomnia symptoms improved. After 60 days of follow-up, all the drugs had been stopped for 2 weeks, and the patient achieved complete remission without any medical side effects.
CONCLUSION
We report the clinical characteristics of a Chinese MoS patient with only LGI1-antibody seropositivity, and further support the view that non-neoplasm MoS patients respond well to immunotherapy.
Topics: Adult; Autoantibodies; Autoantigens; Autoimmune Diseases; Humans; Immunoglobulins, Intravenous; Intracellular Signaling Peptides and Proteins; Male; Syndrome
PubMed: 33941099
DOI: 10.1186/s12883-021-02205-9 -
Neurology India 2022The term "la chorιe fibrillare" was used by the French physician Augustine Marie Morvan to describe a syndrome showing hyperactivity features involving the central,... (Review)
Review
The term "la chorιe fibrillare" was used by the French physician Augustine Marie Morvan to describe a syndrome showing hyperactivity features involving the central, autonomic, and peripheral nervous system. The central hyperactivity symptoms are confusion, behavioral problems, hallucinations, myoclonus, and insomnia; the autonomic hyperactivity symptoms are hyperhidrosis and variations in blood pressure; and peripheral hyperexcitability is characterized by painful cramps, myokymia, and neuromyotonia. Here, we present a case that has typical features of Morvan's syndrome and provides a brief description based on available literature.
Topics: Autonomic Nervous System Diseases; Hallucinations; Humans; Isaacs Syndrome; Myokymia; Syringomyelia
PubMed: 35864667
DOI: 10.4103/0028-3886.349616 -
Journal of Clinical Neurology (Seoul,... Oct 2020
PubMed: 33029979
DOI: 10.3988/jcn.2020.16.4.699 -
Intractable & Rare Diseases Research Feb 2020Multiple sclerosis is considered the most frequent demyelinating disorder of the Central Nervous System (CNS) among young adults, yet is very rare before 10 years old....
Multiple sclerosis is considered the most frequent demyelinating disorder of the Central Nervous System (CNS) among young adults, yet is very rare before 10 years old. Acute disseminated encephalomyelitis is a monophasic, polysymptomatic disorder that involves the CNS white matter with demyelinating lesions, which usually occurs after systemic viral infections. These two demyelinating diseases can present initially as an acute focal neurological syndrome and they can be difficult to distinguish. We describe a case of a nine-year-old girl that presented initially with dysphonia, gait ataxia, eyelid myokymia and brainstem disturbances. This was her second episode; the first episode was at the age of four years old. She recovered without neurological sequelae. The brain magnetic resonance imaging (MRI) demonstrated multiple demyelinating lesions in the white matter, cortical regions of the frontal lobe, periventricular distribution, internal capsule, corpus callosum and cerebellum. The purpose of the presentation of this case was to highlight the similarities between these two entities, since the clinical picture and neuroimaging are difficult to distinguish, mainly in relation to the first episode.
PubMed: 32201679
DOI: 10.5582/irdr.2020.01009 -
ENeurologicalSci Jun 2022We report a 77-year-old woman with a thymoma, anti-LGI1antibody associated encephalitis (LGI1 encephalitis), and MG accompanied by positive anti-acetylcholine receptor...
We report a 77-year-old woman with a thymoma, anti-LGI1antibody associated encephalitis (LGI1 encephalitis), and MG accompanied by positive anti-acetylcholine receptor antibodies (AchR Ab) and anti-titin antibodies (titin Ab). She was treated with thymomectomy followed by immunosuppressive therapy, which resulted in immediate amelioration of motor weakness and gradual improvement of cognitive impairment over the next two years. LGI1 Ab were positive at two months after thymomectomy, followed by negative conversion demonstrated on 1 year examination. The AchR Ab level had gradually decreased but titin Ab was positive on re-examination after two years, although the cognition and motor impairment symptoms had been alleviated. In patients with suspected autoimmune encephalitis, the detection of several autoantibodies including LGI1 and thymomas provides useful information for making an accurate diagnosis.
PubMed: 35295746
DOI: 10.1016/j.ensci.2022.100395 -
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 -
Toxicon: X Jun 2023A 2-year-old female Dachshund had a witnessed timber rattlesnake envenomation. Although rattlesnake envenomations are a common, potentially life-threatening event in...
A 2-year-old female Dachshund had a witnessed timber rattlesnake envenomation. Although rattlesnake envenomations are a common, potentially life-threatening event in companion animals, timber rattlesnake envenomations in the dog are rarely reported. This dog described in this case report had significant hematologic and neurologic clinical derangements consistent with Types A and B rattlesnake venom and a suspected hypersensitivity reaction to the venom. This patient was treated aggressively with antivenom and fully recovered without any persistent neurologic signs at follow-up.
PubMed: 37168094
DOI: 10.1016/j.toxcx.2023.100156 -
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 -
Cureus Oct 2022We presented a 23-year-old patient who had experienced neuromyotonia in his left leg. Although he tested negative for anti-LGI1 and anti-CASPR2 antibodies, we diagnosed...
We presented a 23-year-old patient who had experienced neuromyotonia in his left leg. Although he tested negative for anti-LGI1 and anti-CASPR2 antibodies, we diagnosed him with Isaacs syndrome due to myokymic discharges on electromyography and symptoms being relieved by intravenous methylprednisolone (IVMP) and intravenous immunoglobulin (IVIg). IVMP, IVIg, plasma exchange, or cyclosporine treatment did not provide a long-term response; however, rituximab showed long-term improvement. Rituximab should be considered early in the treatment of patients with antibody-negative Isaacs syndrome who are responsive to immunotherapy, including IVMP, IVIg, and plasma exchange, and have long-term symptoms that are hard to control.
PubMed: 36381695
DOI: 10.7759/cureus.30100 -
BMC Oral Health Jun 2024Isaacs' syndrome, also known as neuromyotonia or peripheral nerve hyperexcitability, is a rare disorder that affects the peripheral nervous system. Clinical findings...
BACKGROUND
Isaacs' syndrome, also known as neuromyotonia or peripheral nerve hyperexcitability, is a rare disorder that affects the peripheral nervous system. Clinical findings include cramps, fasciculations, and myokymia; however, there are few reports of dental treatment for trismus.
CASE PRESENTATION
A patient with trismus due to Isaacs' syndrome experienced swelling and pain in the gingiva surrounding his right lower first molar. He was diagnosed with chronic apical periodontitis by a dentist near his home. However, the patient was informed that dental treatment and medication could not be administered because of the presence of Isaacs' syndrome, and he visited the Geriatric Dentistry and Perioperative Oral Care Center at Kyushu University Hospital 2 weeks later. The patient's painless mouth-opening distance (between incisors) was 20 mm at that time, and medication, including amoxicillin capsules and acetaminophen, was administered because the dental extraction forceps or endodontic instruments were difficult to insert into the oral cavity for treatment. Two months after his initial visit, the patient visited us complaining of pain in the same area. However, he had recently undergone plasmapheresis treatment in neurology to alleviate limited mouth opening and systemic myalgia, resulting in a pain-free mouth-opening distance of approximately 35 mm. During this temporary period in which he had no restriction in mouth opening, we performed tooth extraction and bridge restoration on the mandibular right first molar and created an oral appliance for sleep bruxism.
CONCLUSIONS
Plasmapheresis therapy transiently reduced trismus, rendering dental interventions feasible, albeit temporarily. This case report underscores the importance of close collaboration between neurologists and dentists who encounter similar cases while furnishing valuable insights to inform dental treatment planning.
Topics: Humans; Male; Trismus
PubMed: 38909199
DOI: 10.1186/s12903-024-04485-2