Torticollis as an Initial Manifestation of a Seronegative Demyelinating Disorder in a Child: A Case Report

Torticollis refers to a condition in which the head is persistently tilted to one side, sometimes associated with pain. Torticollis in a child can be congenital or acquired. Torticollis as an initial manifestation of an underlying demyelinating syndrome is quite rare in children. Here, we report a 7-year-old girl who presented with persistent torticollis. Neuroimaging of the brain revealed features of a demyelinating disease. Further studies did not show any evidence of multiple sclerosis. Cerebrospinal fluid was negative for antiaquaporin-4 antibodies, antimyelin oligodendrocyte glycoprotein antibodies, and oligoclonal bands. A seronegative demyelinating disorder was considered. She was treated with pulsed methylprednisolone therapy. She responded well to steroids with no progression of illness during follow-up. Torticollis was partially improved.

Signs of neuroinflammation outweigh neurodegeneration as predictors for early conversion to MS

Background The pathophysiological mechanisms underlying multiple sclerosis include both inflammatory and degenerative processes. We aimed to study and compare markers of neuroinflammation and neurodegeneration in patients with first presentation of demyelinating disorder and to prospectively identify which of the studied markers serve as predictors for early conversion to multiple sclerosis. Thus, 42 patients with first clinical manifestations suggestive of demyelinating disease were included in a prospective study. Subjects underwent thorough history taking and clinical evaluation. Laboratory studies involved analysis of cerebrospinal fluid (CSF) and serum chitinase 3-like 1 levels. Brain imaging included MRI and ultrasonographic assessment. Results T1 black holes, elevated oligoclonal bands (OCB), high baseline T2 lesion load, and enhanced MRI lesions were significantly higher in patients with 1st attack multiple sclerosis. Significantly higher CSF-OCB and serum chitinase 3-like 1 protein was detected in patients with multiple sclerosis (MS) compared to clinically isolated syndrome, and higher levels in MS convertors than non-convertors. Cognitive dysfunction evaluated by MoCA test and brain atrophy assessed using transcranial sonography did not show significant difference among the studied groups. Logistic regression analysis showed that heavy T2 lesion load served as the only predictor of conversion to MS. Conclusion Early conversion to MS after first attack of demyelination is related to detection of signs of neuroinflammation rather than neurodegeneration.

A Novel Case of Bifacial Diplegia Variant of Guillain-Barré Syndrome Following Janssen COVID-19 Vaccination

Guillain-Barré syndrome (GBS) is an immune-mediated demyelinating disorder which attacks the peripheral nervous system. Antecedent infection or vaccine administration are known to precipitate the onset of this disorder. Its typical presentation leads to a symmetric, rapidly progressive, ascending paresis with associated sensory deficits and impaired reflexes. We present a rare case of a bi-facial diplegia variant of GBS, within four weeks of the COVID-19 vaccination. Due to its chronology, clinical manifestations, and cerebrospinal fluid (CSF) findings, we propose this case to be a rare complication of the COVID-19 vaccination.

Anti-NMDA receptor encephalitis and overlapping demyelinating disorder in a 20-year old female with borderline personality disorder: proposal of a diagnostic and therapeutic algorithm for autoimmune encephalitis in psychiatric patients “case report”

Background Anti-NMDA receptor encephalitis (NMDAR-E) is an autoimmune encephalitis (AE) mainly affecting young females. It typically presents with isolated psychiatric symptoms (e.g. depressed mood) at first and neurological abnormalities (e.g. seizures, movement disorders) only develop later. Thus, there is a high risk of overlooking NMDAR-E in patients with preexisting psychiatric illness due to symptom overlap in the prodromal period of the disease when treatment is most effective. Although rare, concomitant or sequential development of a demyelinating disorder is increasingly recognized as an associated disease entity (overlap syndrome), with immediate diagnostic and therapeutic implications. Case presentation We report a patient with a borderline personality disorder (BPD), which developed NMDAR-E and an overlapping demyelinating disorder with anti-Myelin oligodendrocyte glycoprotein (MOG) -IgG positivity. The initial clinical presentation with predominantly affective symptoms (e.g. mood lability, anxiety, depressed mood) lead us to suspect an exacerbation of the BPD at first. However, acute changes in premorbid behavior, newly developed psychotic symptoms and memory deficits lead us to the correct diagnosis of an AE, which was further complicated by the development of a demyelinating disorder. As a result of impaired illness awareness and psychosis, diagnostic and treatment was difficult to carry out. The symptoms completely remitted after treatment with methylprednisolone 1 g daily for 5 days and 5 cycles of plasma exchange. Conclusions Continuous awareness for neuropsychiatric clinical warning signs in patients with a pre-diagnosed psychiatric disorder is important for a timely diagnosis. Therefore, we believe that the diagnostic and therapeutic algorithm provided here, for the first time specifically addressing patients with preexisting psychiatric illness and integrating overlap syndromes, can be a useful tool. Moreover, in order to timely perform diagnostics and treatment, judicial approval should be obtained rapidly.

Burkitt Lymphoma Presenting as a Paraneoplastic Demyelinating Disorder in a Child

In adults, lymphomas have been associated with paraneoplastic syndromes that cause cranial nerve palsies, polyneuropathies, and paraplegias. These have been less frequently reported in children. We describe a pediatric patient who initially presented with palsy of her left third cranial nerve and bilateral ptosis. Initial diagnosis was concerning for myasthenia gravis, but after additional diagnostic evaluation, she was found to have acute motor axonal neuropathy. Cerebrospinal fluid studies were consistent with a diagnosis of Burkitt lymphoma. We discuss the importance of considering primary oncologic diagnoses in acute neurologic disorders with unusual presentations.

Early-Onset Alcohol Dependence and Multiple Sclerosis: Diagnostic Challenges

Multiple sclerosis (MS) is an inflammatory demyelinating disorder characterized by the progressive disruption of the myelin sheath around the nerve fibres. The early initiation of disease-modifying treatments is crucial for preventing disease progression and neurological damage. Unfortunately, a diagnostic delay of several years is not uncommon, particularly in the presence of physical and mental comorbidities. Among psychiatric comorbidities, the role of alcohol misuse is still under debate. In this paper, we discuss a case of early-onset alcohol dependence and its possible role in delaying the initiation of a specific therapy for MS. The differential diagnosis between idiopathic and secondary neurodegenerative disorders is often challenging. When dealing with patients reporting an early-onset substance abuse (likely to present organic damage), clinicians may be prone to formulate a diagnosis of secondary neuropathy, particularly when facing non-specific symptoms. This case report highlights the need for in-depth medical investigations (including imaging) in the presence of neurological signs suggesting a damage of the central nervous system, prompting a differential diagnosis between idiopathic and secondary neurodegenerative conditions. Indeed, a timely diagnosis is crucial for the initiation of specific therapies positively affecting the outcome.

Ixekizumab for patients with plaque psoriasis affected by multiple sclerosis

Multiple sclerosis is an autoimmune demyelinating disorder of the central nervous system that shares similar immunopathogenic mechanisms with chronic plaque psoriasis, such as the overexpression of the Th17 pathway. We report the case of a patient with multiple sclerosis and severe chronic plaque psoriasis successfully treated with ixekizumab (anti IL-17A and IL-17A/F monoclonal antibody). The treatment achieved a complete skin clearance (PASI 100 response) with no adverse events or evidence of progression of the neurological disease. Keywords: Psoriasis; Ixekizumab; Multiple sclerosis

An evaluation of the recognised systemic inflammatory biomarkers of chronic sub-optimal inflammation provides evidence for inflammageing (IFA) during multiple sclerosis (MS)

The pathogenesis of the human demyelinating disorder multiple sclerosis (MS) involves the loss of immune tolerance to self-neuroantigens. A deterioration in immune tolerance is linked to inherent immune ageing, or immunosenescence (ISC). Previous work by the author has confirmed the presence of ISC during MS. Moreover, evidence verified a prematurely aged immune system that may change the frequency and profile of MS through an altered decline in immune tolerance. Immune ageing is closely linked to a chronic systemic sub-optimal inflammation, termed inflammageing (IFA), which disrupts the efficiency of immune tolerance by varying the dynamics of ISC that includes accelerated changes to the immune system over time. Therefore, a shifting deterioration in immunological tolerance may evolve during MS through adversely-scheduled effects of IFA on ISC. However, there is, to date, no collective proof of ongoing IFA during MS. The Review addresses the constraint and provides a systematic critique of compelling evidence, through appraisal of IFA-related biomarker studies, to support the occurrence of a sub-optimal inflammation during MS. The findings justify further work to unequivocally demonstrate IFA in MS and provide additional insight into the complex pathology and developing epidemiology of the disease.

Optic Neuritis Presented as Syndrome of Inappropriate Antidiuretic Hormone Secretion in an 8 Year Old

Optic neuritis is a rare demyelinating disorder, which involves the optic nerve. It can be a monophasic self-limiting illness due to postinfectious or postvaccination etiology. It can also be an initial presentation of a relapsing demyelinating disorder such as multiple sclerosis or neuromyelitis optica spectrum of disorders. It is characterized to aquaporin-4 antibody-rich areas in the brain, optic nerve, and spinal cord. The hypothalamus and periventricular area are also rich in specific antibodies and may lead to dysfunction in the hypothalamic-pituitary axis. Antidiuretic hormone (ADH) is synthesized in the hypothalamus and stored in the posterior pituitary and may secrete inappropriately due to this disturbance. This will impair water excretion from the kidney, leading to hyponatremia. When hyponatremia is significant, the patient will present with confusion, agitation, and convulsions. This case report discusses acute symptomatic hyponatremia as the initial presentation of optic neuritis due to syndrome of inappropriate ADH secretion (SIADH).

Intracerebral Hemorrhage in Patients with Neuromyelitis Optica: Case Report with Literature Review for Possible Pathological Association

Neuromyelitis optica (NMO) is an autoimmune demyelinating disorder of the central nervous system which is characterized by attacks of optic neuritis and transverse myelitis. An association between NMO and intracerebral hemorrhage (ICH) has been rarely recognized, having been reported only 3 times before. Here we report on a patient with NMO who eventually developed subarachnoid hemorrhage, in order to emphasize that the association between NMO and ICH is mostly not incidental and that the pathological basis for this association should be investigated thoroughly.