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A new outbreak of monkeypox has been reported worldwide with CNS complications like encephalitis or myelitis being extremely rare. We present a case of a 30-year-old man with PCR-confirmed diagnosis of monkeypox who developed rapid neurological deterioration with extensive inflammatory involvement of the brain and spinal cord on MRI. Because of the clinical and radiological resemblance to acute disseminated encephalomyelitis (ADEM), it was decided to indicate treatment with high-dose corticosteroids for 5 days (without concomitant antiviral management due to lack of availability in our country). Given the poor clinical and radiological response, 5 days of immunoglobulin G were administered. During follow-up the patient’s clinical condition improved, physiotherapy was started and all associated medical complications were controlled. To our knowledge, this is the first reported monkeypox case with severe CNS complications treated with steroids and immunoglobulin in the absence of specific antiviral treatment.

ObjectiveTo report the clinical and immunological characteristics of 22 new patients with glial fibrillar acidic protein (GFAP) autoantibodies.MethodsFrom January 2012 to March 2017, we recruited 451 patients with suspected neurological autoimmune disease at the Catholic University of Rome. Patients’ serum and cerebrospinal fluid (CSF) samples were tested for neural autoantibodies by immunohistochemistry on mouse and rat brain sections, by cell-based assays (CBA) and immunoblot. GFAP autoantibodies were detected by immunohistochemistry and their specificity confirmed by CBA using cells expressing human GFAPα and GFAPδ proteins, by immunoblot and immunohistochemistry on GFAP-/- mouse brain sections.ResultsSerum and/or CSF IgG of 22/451 (5%) patients bound to human GFAP, of which 22/22 bound to GFAPα, 14/22 to both GFAPα and GFAPδ and none to the GFAPδ isoform only. The neurological presentation was: meningoencephalomyelitis or encephalitis in 10, movement disorder (choreoathetosis or myoclonus) in 3, anti-epileptic drugs (AED)-resistant epilepsy in 3, cerebellar ataxia in 3, myelitis in 2, optic neuritis in 1 patient. Coexisting neural autoantibodies were detected in five patients. Six patients had other autoimmune diseases. Tumours were found in 3/22 patients (breast carcinoma, 1; ovarian carcinoma, 1; thymoma, 1). Nineteen patients were treated with immunotherapy and 16 patients (84%) improved. Histopathology analysis of the leptomeningeal biopsy specimen from one patient revealed a mononuclear infiltrate with macrophages and CD8+ T cells.ConclusionsGFAP autoimmunity is not rare. The clinical spectrum encompasses meningoencephalitis, myelitis, movement disorders, epilepsy and cerebellar ataxia. Coexisting neurological and systemic autoimmunity are relatively common. Immunotherapy is beneficial in most cases.

Progressive encephalomyelitis with rigidity and myoclonus is a rare neurological disorder predominantly associated with anti-glycine receptor antibodies. It is characterized by rigidity, painful muscle spasms, sensory disturbances, brainstem and spinal cord involvement, autonomic dysfunction, respiratory distress, and sudden, spontaneous, or stimulus-induced myoclonus. A Chinese woman in her early 50s was admitted with acute-onset dysphagia, dysarthria, and stiffness in both lower limbs. Her initial symptoms included anxiety, recurrent myoclonic episodes, swallowing difficulties, and lower limb rigidity. The condition was initially diagnosed as an anxiety disorder, but the diagnosis was reconsidered after the patient’s symptoms progressed despite adequate treatment for almost a year. Diagnostic workup on admission revealed anti-glycine receptor antibodies in the serum, which, along with the clinical presentation, confirmed the diagnosis of progressive encephalomyelitis with rigidity and myoclonus. The patient demonstrated improvement and clinical stabilization after treatment with intravenous immunoglobulin and immunotherapy. This case represents a rare instance of anti-glycine receptor antibody–positive progressive encephalomyelitis with rigidity and myoclonus that initially manifested as an anxiety disorder, later progressing to seizures, myoclonus, brainstem and spinal cord involvement, and autonomic dysfunction. We aim to raise awareness of the psychiatric clinical presentations of progressive encephalomyelitis with rigidity and myoclonus.

BackgroundGlycine receptor antibodies (GlyR-ab) were reported in a patient with progressive encephalomyelitis with rigidity and myoclonus (PERM).MethodsThree additional patients were clinically described. GlyR-ab was detected with a cell-based assay of HEK293 cells transfected with the α1 subunit of the GyR.ResultsA 33-year-old woman presented with diplopia, dysphagia and gait ataxia that improved in 5 weeks. Then, she developed a typical stiff-person syndrome (SPS) that resolved with corticosteroids, but relapsed 17 months later with a stiff limb syndrome. After treatment with intravenous immunoglobulins (IVIG), she has been asymptomatic for 8 years. A 60-year-old man developed, dysphagia, diplopia, left facial palsy and right trigeminal hypoaesthesia in a few days, followed by muscular rigidity, corticospinal signs, myoclonic jerks and severe dysautonomia. He developed seizures and suffered a cardiac arrest that left him in a persistent vegetative state. A 48-year-old man presented with leg rigidity and frequent spells of trismus, muscle spasms followed by opisthotonus and diaphoresis. The symptoms were antedated by pruritus of the left scapulae, right arm and T11–T12 dermatome. At the same time he became progressively more aggressive with emotional irritability. He also developed dysgeusia (metallic taste) and severe concurrent behavioural changes and diurnal hypersomnia. Only the rigidity and the spasms improved after therapy.ConclusionsThe clinical picture associated with GlyR-ab is wider than the classical view of PERM. GlyR-ab should be examined in patients with core symptoms of muscle rigidity and spasms atypical for SPS.

Background. Melioidosis is less common in children than adults. The clinical spectrum of disease varies greatly between the 2 groups. Treatment guidelines are currently based on adult studies, and revision of existing guidelines is necessary to instruct specific pediatric management. Methods. Culture-confirmed cases of melioidosis in the Northern Territory between 1989 and 2013 were identified from the Prospective Melioidosis Study. The epidemiology and clinical spectrum of disease for children aged ≤16 years were analyzed and compared with the adult data. Results. Forty-five pediatric patients were identified, representing 5% of the total 820 melioidosis cases over 24 years. Most children (84%) had no recognized risk factors for melioidosis, and 80% presented during the wet season. Primary cutaneous melioidosis was the commonest presentation in children (60% vs 13%; P < .001), whereas pneumonia predominated in adults (54% vs 20%; P < .001). Bacteremia was less common in children than in adults (16% vs 59%; P < .001). Brainstem encephalitis occurred in 3 children without risk factors. Children were more likely to report an inoculating event (42%; P < .001). There was no difference in mortality between the groups (P = .178), with 3 children dying (7%); all had identifiable risk factors. Four children with cutaneous melioidosis were successfully treated with oral therapy alone, while 2 had skin lesions that resolved spontaneously. Conclusions. Pediatric melioidosis commonly manifests as localized cutaneous disease in immunocompetent hosts. The disease can be fatal, especially in individuals with risk factors for disease. Melioidosis with encephalomyelitis can result in severe residual disability. Prompt diagnosis requires a high index of clinical suspicion in endemic areas.

Background Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and life-threatening autoimmune disease of the central nervous system. So far, only ten cases of PERM have been reported in children worldwide, including the one in this study. Case presentation We report a case of an 11-year-old boy with PERM with an initial presentation of abdominal pain, skin itching, dysuria, urinary retention, truncal and limb rigidity, spasms of the trunk and limbs during sleep, deep and peripheral sensory disturbances, and dysphagia. A tissue-based assay using peripheral blood was positive, demonstrated by fluorescent staining of mouse cerebellar sections. He showed gradual and persistent clinical improvement after immunotherapy with intravenous immunoglobulin, steroids, plasmapheresis and rituximab. Conclusions We summarized the diagnosis and treatment of a patient with PERM and performed a literature review of pediatric PERM to raise awareness among pediatric neurologists. A better comprehension of this disease is required to improve its early diagnosis, treatment, and prognosis.

Introduction Stiff person syndrome (SPS) is a rare disease characterized by axial and lower-extremity muscle rigidity, muscle spasm, and pain. Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a variant of SPS. This case is particularly notable for its uncommon initial symptom: orthostatic hypotension, coupled with the presence of multiple antibodies. Such a presentation is a rarity in the context of PERM, thus providing a fresh and unique angle for both diagnosis and treatment. Case presentation This case presents a 71-year-old man who was ultimately diagnosed with progressive encephalomyelitis with rigidity and myoclonus (PERM). His initial symptom was orthostatic hypotension, and we detected multiple antibodies such as GlyR antibody, GAD antibody, GM1-IgG and GQ1b-IgG in his serum. The patient showed partial response to glucocorticoid and immunoglobulin therapies, but as the disease recurred and progressed, plasma exchange, rituximab, and cyclophosphamide immunosuppressive therapy was administered, the prognosis remained poor. During follow-up after treatment, the patient developed pulmonary embolism and cardiac arrest, and died. Conclusion PERM exhibits diverse manifestation and pathogenic mechanisms. Immune heterogeneity affects clinical symptoms and prognosis. Cases of PERM combined with orthostatic hypotension and various antibodies have rarely been reported, the incidence and the specific mechanism is unknown, underscoring the need for further research. This case report underscores the importance of recognizing the diverse clinical presentations of PERM and the challenges in its diagnosis and management. It highlights autonomic dysfunction may be as the initial symptom of PERM. Moreover, it emphasizes the limitations of current treatment modalities and the necessity for further research to elucidate the underlying mechanisms and optimize therapeutic approaches for this debilitating autoimmune condition.

A patient with reactivated varicella zoster virus (VZV) manifesting in the left-sided dermatome L3 and S2–S4 developed tonic spasms which morphed into myoclonic jerks, paresis, rigidity and hypoesthesia of the left leg. Later, stimuli-sensitive myoclonus progressed to affect the upper body and was accompanied by fever surges with high-frequency myoclonus, hypertensive derailment, dysphagia and other features of the brainstem with autonomic dysfunction. Cerebrospinal fluid tested positive for VZV, MRI showed no signs of myelitis and EEG was negative for epilepsy. However, on clinical presentation, progressive encephalomyelitis with rigidity and myoclonus, a variant of the more well-known stiff person syndrome, was suspected and later supported by positive serum testing for associated anti-glycine receptor antibodies. Initially established antiviral, anti-epileptic and symptomatic treatment was then extended with intravenous immunoglobulin therapy. Only additional corticosteroid treatment led to a reduction in myoclonus, and uptitration of benzodiazepines decreased rigidity.