ABSTRACT
To report a typical case of Morvan syndrome with positive anti-leucine rich glioma-inactivated 1(LGI1) and contactin-associated protein 2 (CASPR2) antibodies in serum and cerebrospinal fluid. A 39-years-old female initially presented weakness of extremeties. The main symptoms included paroxysmal limb pain, wheezing, itching, muscle twitching, epilepsy, hypomnesia, dysphoria, apathy, intractable insomnia, salivation and sweating. Tests of electrolytes found hypokalemia (2.7-3.1 mmol/L) and hyponatremia (130-136 mmol/L). Arterial blood gas analysis showed hypoxemia (oxygen saturation 50%-70%). Total thyroxine (TT4) was elevated to 207 nmol/L with positive thyroid peroxidase antibody (TPO-Ab) and thyroglobulin antibody (TG-Ab). LGI1and CASPR2 antibodies (CBA method) were positive in both serum and cerebrospinal fluid, and the remaining antibodies related to autoimmune encephalitis and paraneoplastic syndrome were negative. Head MRI was almost normal, while mild abnormalities were found in electroencephalogram. Electromyography showed slightly increased voltage of left quadriceps motor unit potential. After treated with corticosteroids, IVIG and mycophenolate mofetil, the patient completely improved. Cognitive function scores recovered from MoCA/MMSE (16/24) to MoCA/MMSE (26/29). Positivity of LGI1/CASPR2 antibodies both in serum/cerebrospinal fluid are rarely seen in patients with Morvan syndrome. Steroids and immunosuppressants are suggested for treatment as early as possible.
ABSTRACT
Peripheral nerve hyperexcitability syndromes (PNHS) encompass a spectrum of a heterogeneous condition with clinical as well as electrophysiological manifestations of peripheral nerve hyperexcitability. The PNHS consist of Isaacs syndrome, Morvan syndrome and Cramp-fasciculation syndrome, which cause widespread symptoms and signs while without evident peripheral nerve disease. Probably the most well-known condition of PNHS is Isaacs syndrome, often called acquired neuromyotonia. Clinical symptoms of PNHS are characterized by muscle twitching, cramps, stiffness, and neuropathic pain. The electrophysiological findings that are very useful in the diagnosis of PNHS are spontaneous myokymic, neuromyotonic, and cramp discharges. An overview of the history, clinical manifestations, pathophysiology, electrophysiological findings and management of PNHS is presented.
ABSTRACT
Objective To explore the clinical features of anti-Caspr2 antibody-associated encephalitis. Method The clinical data of anti-Caspr2 antibody-associated encephalitis in a child were retrospectively reviewed. Results A 5-year-old girl manifested as recent memory loss, irritability, cognitive impairment, hallucination, sleep disorders, and so on. The child had positive serum Caspr2 antibody, and was diagnosed with Caspr2 antibody encephalitis after exclusion of other diseases. The literature search retrieved 50 cases of Caspr2 antibody encephalitis with complete data, including 43 male cases and 7 female cases. The minimum onset age of the disease was 5 years in this case. In addition, 1 patient developed the disease at the age of 8, while the rest developed in adulthood. There were 32 cases (62.75％) of marginal encephalitis and 19 cases (37.25％) of morvan's syndrome. The most common clinical symptoms were impaired memory, epileptic seizures, and psychiatric symptoms such as anxiety, apathy, irritability, hallucinations or delusions, peripheral nerve hyperexcitability (PNH) , cerebellar ataxia and autonomic nervous disorders. Forty-four cases (86.27％) recovered or improved, 8 cases (15.69％) were complicated with tumors and 8 cases (15.69％) relapsed. Conclusion Caspr2 antibody encephalitis is relatively rare, especially in children. If the patient has marginal encephalitis symptoms, combining with PNH, ataxia and autonomic nerve symptoms, the possibility of Caspr2 antibody encephalitis should be considered.
ABSTRACT
Objective To describe the clinical spectrum,especially sleep disorder in three patients diagnosed with Morvan syndrome.Methods Three consecutive patients were identified with Morvan syndrome in the Department of Neurology, Peking Union Medical College Hospital between December 2014 and March 2016.The character in three cases has been studied from several aspects such as clinical presentation, imaging, polysomnography (PSG), cerebrospinal fluid and serum.Results Serum test showed serum contactin-associated protein 2 (CASPR2)antibodies strongly positive (+++) and leucine-rich glioma inactivated protein 1 antibodies positive (+) in three patients.Neuropsychiatric features, neuromyotonia, neuropathic pain, dysautonomia, agrypnia excitata presented in all three patients.The agrypnia excitata was characterized by severe insomnia, excessive motor activity during the night.Agrypnia excitata was diagnosed in three patients according to their history.PSG was finished in case 2 and case 3.PSG in one patient (case 2) documented severe insomnia (sleep efficiency was 59%), lack of cyclic sleep organization with a predominance of stage 1 non-rapid eye movement sleep episodes intermixed with brief rapid eye movement, and a marked reduction of spindles and delta sleep;PSG in another patient (case 3) revealed complete absence of recognizable sleep.Sleep disorders and other symptoms resolved completely or almost completely in two patients (case 1,case 2) who received immunotherapy.Case 3 died from sudden cardiac death before immunotherapy.Conclusions Morvan syndrome usually is associated with high-titer CASPR2 antibodies in serum.Agrypnia excitata is cardinal manifestation of Morvan syndrome in association with a spectrum of neurologic presentations.Early immunotherapy could provide a favorable outcome.
ABSTRACT
Neuromyotonia, or Isaacs' syndrome, consists of continuous muscle fiber activity caused by hyperexcitability of the peripheral nerves. Rarely, these patients also develop CNS symptoms characterized by confusion, insomnia, hallucinations, and agitation. A rare disease consisting of neuromyotonia, autonomic symptoms, and CNS dysfunction is called Morvan's syndrome. We report a 24-year-old man who presented with insomnia, malaise, anorexia, hyperhidrosis, palpitation and myokymia in both the lower extremities. The pathomechanism of Morvan's syndrome is related to the voltage-gated K+ channel (VGKC) antibodies.