Atypical Clinical Course Research Articles

Clinical observations of skin Kaposi’s Sarcoma

Kaposi's sarcoma (KS) is an angioproliferative disease of endothelial origin associated with human herpes virus-8 (HHV-8), or Kaposi's sarcoma herpesvirus (KSHV). The disease was first described in 1872 by Moritz Kaposi as a pigmented cutaneous sarcoma localized on the lower extremities. The disease is considered quite rare, but at present there is an increase in the incidence worldwide, due to which there is a growing interest in this problem. Today, it remains the leading skin pathology among HIV-positive patients, occurring in 20%. However, the assessment of the pathological process can be difficult, and the diagnosis may not be made at all, due to atypical clinical manifestations (especially in HIV-negative patients), so the problem of KS diagnostics remains relevant for doctors of any specialty, especially dermatovenerologists and oncologists. Kaposi's sarcoma can affect almost any organ, including the skin. The most common localization is on the skin of the extremities and face. Clinical manifestations are rashes in the form of spots, nodules, plaques, nodes. Kaposi's sarcoma is classified according to clinical and epidemiological forms: classical, endemic, epidemic and iatrogenic. Recently, a fifth form has been described, called non-epidemic KS, which is observed in HIV-negative MSM (men who have sex with other men). These clinical cases demonstrate an atypical clinical course of Kaposi's sarcoma of the skin with the absence of HIV-1, HIV-2 and HHV-8 in the blood of the presented patients.

Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship – a case report

BackgroundLate-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and clinical course following chemotherapy treatment during childhood.Case presentationA 10-year-old boy, diagnosed with hepatoblastoma at age 2 and treated with cisplatin and epirubicin, presented with polyuria, polydipsia, failure to thrive, and electrolyte imbalances. He exhibited hypokalemia, metabolic alkalosis, and elevated urinary excretion of sodium, chloride, calcium, and magnesium. Whole exome sequencing and Sanger sequencing identified compound heterozygous variants in the KCNJ1 gene, confirming the diagnosis of type II Bartter syndrome. The patient’s clinical presentation was distinct from previously reported cases, with an absence of nephrocalcinosis, unusually small and hyperechoic kidneys, and a substantial decline in kidney function. Treatment included oral potassium supplementation, spironolactone, and angiotensin-converting enzyme inhibitors.ConclusionsThis case highlights the importance of considering late-onset Bartter syndrome in patients with a history of chemotherapy presenting with persistent electrolyte imbalances and ongoing renal dysfunction. The atypical features and rapid progression of chronic kidney disease in this patient may be attributed to the deleterious nature of the identified variants and the potential impact of previous chemotherapy on kidney susceptibility to damage. Careful monitoring and management of electrolyte imbalances and renal function are crucial in such cases.

Traumatic Middle Meningeal Artery Aneurysm: A Rare Cause of Recurrent Acute Epidural Hematoma. A Case Report

AbstractTraumatic middle meningeal artery aneurysm (TMMA) is a rare condition and a known cause of several different bleeding patterns after head injury. Once detected, they need to be treated as an emergency due to their potential for morbidity and mortality. Generally, recurrence does not occur in surgery for acute epidural hematoma if adequate hemostasis is achieved. Here, we report a case of atypical postoperative recurrence of an acute epidural hematoma, possibly due to the development and rupture of a TMMA. A 41-year-old man with left acute epidural hematoma after a head injury was referred to our hospital. Emergency craniotomy was performed immediately, and the hematoma was removed. The source of the bleeding was near the fracture site in the middle cranial fossa, and sufficient hemostasis was confirmed. However, a head computed tomography (CT) scan the next day revealed a recurrence of the acute epidural hematoma. Magnetic resonance (MR) angiogram showed an aneurysm with a diameter of approximately 4 mm in the left middle meningeal artery. The recurrence of the acute epidural hematoma appeared to be related to the formation and a rupture of a middle meningeal artery aneurysm, and to prevent subsequent rebleeding, the patient underwent reoperation, and the hematoma and aneurysm were removed. In surgery for acute epidural hematoma, recurrence can be prevented by removing the hematoma and ensuring hemostasis. Although conventional surgery was performed in this case, a repeat of epidural hematoma occurred. A postoperative middle meningeal artery aneurysm had been thought to have developed, ruptured, and caused a repeat epidural hematoma.In treating acute epidural hematoma, a TMMA development should be considered when an atypical clinical course occurs, such as a recurrence of postoperative bleeding.

Onset of Rheumatoid Arthritis with eye manifestations (clinical case report)

Objective. Rheumatoid Arthritis may onset with ocular manifestations. The purpose of our work was presentation of clinical case of the onset of rheumatoid arthritis with an eye lesion.Materials and methods. A clinical case of rheumatoid arthritis with an atypical onset was analyzed. As well, a search and review of relevant literature was performed.Results. Patient with rheumatoid arthritis got bilateral ulcerous keratitis, refractory to conventional treatment and complicated by bilateral corneal perforation with iris prolapse. Due to the atypical clinical course of ophthalmic lesions being insusceptible of medical treatment, the patient was examined further. Laboratory immunological workup revealed positive rheumatoid factor, anti-CCP and anti-MCV antibodies. The typical symmetric presentation of arthritis developed 8 months after the onset of ophthalmic disorders. Baseline therapy of rheumatoid arthritis has demonstrated efficacy both in controlling the joint manifestations and preventing relapse of keratitis.Conclusion. The development of eye syndrome may precede articular manifestation of rheumatoid arthritis. While managing patients with recurrent bilateral keratitis, rheumatologic pathology should be suspected.

Характеристика перебігу епідемічного процесу скарлатини у сучасних умовах

S carlet fever is one of the most common nosological forms of group A streptococcal infection (SGA). In recent years, there has been an increase in the incidence of this infection in the countries of Europe and Asia, the USA and Canada. The analysis of professional publications of different countries of the world regarding the manifestations of the epidemic process of scarlet fever was carried out, as well as information on epidemiological studies conducted by the authors was provided. It has been established that children remain the leading risk group for scarlet fever, men are more often affected among adults, but the role of young women who care for children as a source of infection is increasing. The aerosol-aspiration mechanism of transmission of the causative agent of scarlet fever is realized by airborne and contact-household ways of its transmission. There is an intensification of the contact-household way of transmission of the pathogen. An atypical course of scarlet fever is observed with manifestations of co-infection, in particular, gastroenterocolitis, chicken pox and respiratory infections. A significant number of publications are devoted to the influence of environmental factors on the course of the epidemic process of scarlet fever. The authors note a direct correlation between the incidence of scarlet fever and atmospheric air pollutants, meteorological factors, as well as the influence of social and economic factors on the epidemic situation of this infection. Long-term use of antibiotics has contributed to the development of antibiotic resistance to the most common drugs, which prompts scientists to develop vaccines against iSGA. So, scarlet fever is characterized by widespread distribution, impression of mainly children, co-infection, atypical clinical course, especially in immunocompromised persons, and implementation of the contact-household way of transmission of the pathogen. The influence of social, natural and environmental factors on the course of the epidemic process of scarlet fever has been established, which is important to consider when conducting epidemiological surveillance of this infection. The introduction of vaccination against iSGA will contribute to the reduction of antibiotic resistance, which is currently a global problem for humanity. We consider it necessary to include scarlet fever and other iSGA in the list of infectious diseases subject to registration in Ukraine. Key words: scarlet fever, incidence, risk groups, ways of pathogen transmission, atypical course, co-infection, environmental factors, antibiotic resistance.

Possible Role of Cytomegalovirus in Gastric Cancer Development and Recurrent Macrolide-Resistant Campylobacter jejuni Infection in Common Variable Immunodeficiency: A Case Report and Literature Discussion.

Common variable immunodeficiency (CVID) is the most common symptomatic immunodeficiency in adults. It comprises a group of syndromes whose etiology involves genetic, epigenetic, microbiota, and environmental factors. We present the case of a 46-year-old Caucasian male patient with CVID and an immune dysregulation phenotype. The particular elements of the case consisted of an atypical clinical course, which undoubtedly demonstrates the great variability of clinical manifestations that these types of patients can suffer from, including bacterial and viral infections, autoimmune phenomena, and neoplasia. Notably, the patient suffered from recurrent gastrointestinal infection with macrolide-resistant Campylobacter jejuni and gastroduodenal disease and viraemia by cytomegalovirus (CMV). In addition, CMV was postulated as the main pro-oncogenic factor contributing to the development of early-onset intestinal-type gastric adenocarcinoma, for which the patient underwent gastrectomy. The patient's evolution was difficult, but finally, as a result of the multidisciplinary approach, clinical stabilization and improvement in his quality of life were achieved. Based on our brief literature review, this is the first reported case of this clinical complexity. Our experience could help with the management of future patients with CVID and may also update current epidemiological data on CVID.

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

Introduction: Peroxisome biogenesis disorders (PBDs) encompass a group of diseases marked by clinical and genetic heterogeneity. Phenotypes linked to PBDs include Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease (IRD), rhizomelic chondrodysplasia punctata type 1, and Heimler syndrome. PBD phenotypes manifest through hypotonia, developmental delay, facial dysmorphism, seizures, liver dysfunction, sensorineural hearing loss, and retinal dystrophy. Methods: The proband underwent comprehensive clinical evaluation, followed by whole-exome sequencing (WES) coupled with copy number analysis (CNV), aimed at identifying potential disease-causing variants aligning with the observed phenotype. Results: Our findings detail an individual exhibiting developmental delay, hearing loss, visual impairment, hepatomegaly, and splenomegaly, attributed to a biallelic deletion of exon 4 in the PEX26 gene. The WES analysis of the index case did not uncover any pathogenic/likely pathogenic single-nucleotide variations that could account for the observed clinical findings. However, the CNV data derived from WES revealed a homozygous deletion in exon 4 of the PEX26 gene (NM_001127649.3), providing a plausible explanation for the patient’s clinical features. The exon 4 region of PEX26 encodes the transmembrane domain of the protein. The transmembrane domain plays a crucial role in anchoring the protein within lipid bilayers, and its absence can disrupt proper localization and functioning. As a result, this structural alteration may impact the protein’s ability to facilitate essential cellular processes related to peroxisome biogenesis and function. Conclusion: The index patient, which presented with hearing loss, retinal involvement and hepatic dysfunction in adolescence age, has atypical clinical course that can be considered unusual for Zellweger syndrome (ZS) and IRD phenotypes, and its rare genotypic data (in-frame single exon deletion) expands the PBD disease spectrum. This study revealed for the first time that PEX26 protein transmembrane domain loss exhibits an unusual course with clinical findings of IRD and ZS phenotypes. WES studies, incorporating CNV analyses, empower the identification of novel genetic alterations in genes seldom associated with gross deletion/duplication variations, such as those in the PEX26 gene. This not only enhances diagnostic rates in rare diseases but also contributes to broadening the spectrum of causal mutations.

Atypical Clinical Courses of Graves' Disease Confound Differential Diagnosis of Hyperthyroidism.

This study examined the appropriateness of the current paradigm for differential diagnosis of painless thyroiditis and Graves' disease (GD) in patients with thyrotoxicosis. We retrospectively evaluated the clinical course of 343 consecutive patients with hyperthyroidism diagnosed by Tc-99m pertechnetate thyroid uptake (TcTU) testing at our hospital from January 2011 to December 2017. Of the 263 patients with normal or high TcTU levels (≥1.0%), 255 (97%) had unequivocal GD and 5 had spontaneous remission GD or atypical GD. Of the 10 patients with low TcTU levels (<1.0% and ≥0.5%), 7 had GD, while others had subclinical GD, spontaneous remission GD with later relapse, and painless thyroiditis. Of those with very low TcTU levels (<0.5%), most had thyroiditis (painless thyroiditis, 33/67 [49%]; subacute thyroiditis, 29/67 [43%]), and some were positive for anti-TSH receptor antibodies. Given that atypical GD may confound the diagnosis of thyrotoxicosis, it is essential to follow the patient as a tentative diagnosis, whatever the diagnosis. This is the first report clearly demonstrating that so far there is no gold standard for the diagnosis of GD. It is therefore urgent to establish a consensus on the definition of GD so that the specificity and sensitivity of future diagnostic tests can be determined.

321 - Severe pernicious anemia presenting with an atypical clinical course concerning for underlyling hematologic malignancy—a case report

321 - Severe pernicious anemia presenting with an atypical clinical course concerning for underlyling hematologic malignancy—a case report

Necrotizing Fasciitis Due to Group A Streptococcus: A Case of a Deteriorating Biphasic-like Clinical Course Over Five Days with a Devastating Outcome.

Necrotizing fasciitis (NF) is a life-threatening disease with high mortality and rapidly progressive clinical manifestations1. Early detection and surgical management coupled with antibiotic treatment are crucial for the survival, and the patient survival is heavily dependent on clinical decisions2,3. However, it is not widely known that NF does not always follow a typical clinical course, and there have been no case reports of NF following an atypical clinical course. Although the course of the disease depends on the individual patient, it remains a challenge for physicians to determine the precise timing when patients are most likely to survive multiple surgical interventions. We encountered a challenging case presenting with an atypical clinical course. We herein report a 31-year-old man who followed a deteriorating biphasic-like clinical course and presented with extensive NF and streptococcal toxic shock syndrome due to Group A Streptococcus. This case serves to inform physicians of the existence of NF with an atypical and deteriorating biphasic-like clinical course, emphasizing the need for a careful evaluation of the patient condition.

Experience in a primary care inpatient hospital (Comárcal) with the use of CSF results for the diferential diagnosis of Alzheimer’s disease

AbstractBackgroundTo analyze the usefulness of the use of Alzheimer’s disease (AD) biomarkers in cerebrospinal fluid (CSF) since its incorporation into clinical practice, in a first‐line care hospital setting.MethodWe review clinical history, neuroimaging and neuropsychology, and results of B‐amyloid 42, B‐amyloid 42/40 ratio, total tau and p‐tau in CSF in patients who consulted for cognitive impairment. Prior to biomarker determination, they were assigned a degree of suspicion based on history, neuroimaging and neuropsychology. Afterwards, they were reclassified into probable AD/ dementia not AD/no evidence of AD or neurodegeneration according to the ATN system. Finally, the usefulness was assessed according to whether a high degree of diagnostic certainty was achieved in each case.Result39 patients gave ICF and were analyzed; mean age 69.5 years; cases with typical and atypical clinical course. After determination of biomarkers, they were classified according to whether they presented A+/A‐, T+/T‐ and N+/N‐; findings were correlated with previous clinical and paraclinical data and compared with them, and stratified according to the degree of diagnostic certainty provided. A high degree of diagnostic certainty was achieved in 34/39 patients.Conclusiondetermination of CSF biomarkers is a useful, affordable and decisive tool in the differential diagnosis of patients with Alzheimer’s disease, which makes it a diagnostic resource to be used preferably even in primary health care hospitals.

Systemic sclerosis sine scleroderma with atypical clinical course: a rare case report.

Systemic sclerosis (SSc) is divided into three subtypes: limited cutaneous SSc (lcSSc), diffuse cutaneous SSc (dcSSc), and systemic sclerosis sine scleroderma (ssSSc). ssSSc is a rare subtype of SSc that presents with internal organ manifestations but no cutaneous findings. We report the case of a 58-year-old patient with a history of pulmonary hypertension who presented with symptoms of fatigue, inflammatory polyarthritis, and joint swelling. Following a comprehensive clinical examination and laboratory tests, the patient was diagnosed with ssSSc. Due to its atypical clinical course, we present this case report, which commenced with idiopathic pulmonary hypertension. Subsequently, after 7 months, the patient presented complaints of polyarthritis with positive antinuclear antibodies. Raynaud's phenomenon was identified 2 months later during the rheumatology clinic examination. Typically, the clinical course encompasses all three features simultaneously, without any gap between them. Diagnosis of ssSSc remains challenging, and it is essential to consider this disease form in all cases involving unexplained fibrotic involvement of the internal organs.

Severe Hypocalcemia in the Adolescent as the Only Manifestation of &lt;i&gt;22q11&lt;/i&gt; Microdeletion Syndrome: Clinical Case

Background. In this article, we would like to describe the atypical clinical picture and course of 22q11 microdeletion syndrome in a patient without specific phenotypic signs and symptoms typical for this disease.Clinical case description. Male patient, 13 years old, was hospitalized for the first time with seizure and multiple spinal fractures caused by hypocalcemia. He was referred to rheumatologist and clinical geneticist after hospital stay. Differential diagnosis included not only various bones metabolic diseases, but also 22q11 deletion syndrome. Later it was confirmed via FISH test.Conclusion. This clinical case proves once again the uniqueness of every single case, as well as the importance of comprehensive approach to the diagnosis and management of such patients.

Emergent infection: atypical clinical cases of monkeypox (updated review)

Abstract. The international emergency caused by monkeypox has forced the world to pay attention to this infection, as it has spread beyond endemic regions and no control measures have been developed. The virus began to be transmitted to humans not only by contact, but also by airborne droplets, fecal-oral, and vertical. There have been cases of in-hospital spread, outbreaks after eating contaminated animal meat, and swimming in water. Pregnant women, children under 8 years of age, and HIV-infected people require special attention due to the risk of complications. Therefore, it is important for doctors of all levels to be aware of new ways of spreading the infection, atypical manifestations of the disease for differential diagnosis, timely detection and further treatment. Aim. To conduct an up-to-date literature review of clinical cases of monkeypox in people at increased risk of developing atypical course and complications - in HIV-infected people (due to the virus's damage to the immune system) and children under 8 years of age (due to insufficiently formed immunity). Materials and Мethods. Scientific articles from the google scholar database were analyzed, among which 7 articles with 9 different case descriptions were selected to conduct an in-depth study of clinical cases among people from different non-endemic countries who have insufficient immunity (WHO experts consider African and Asian countries to be endemic). Results. Most of the atypical cases were observed among homosexual men receiving antiretroviral therapy or pre-exposure prophylaxis for HIV infection. The characteristic rash appeared after unprotected oral or anal sex on the corresponding body parts. As for the disease in young children who do not have their own immunity, the mechanism of transmission was contact or vertical. Conclusions. Our analysis of the literature shows the prevalence of monkeypox in the male gender group with non-traditional sexual orientation. Based on the analysis, HIV-infected homosexuals, mostly men, are the main risk group for infection with this emergent orthopoxvirus. At the same time, people with primary and secondary immunodeficiency conditions remain particularly vulnerable. It is important that the atypical clinical course complicates timely clinical and laboratory diagnosis and even the initiation of treatment, which can lead to severe and fatal complications (in endemic regions among children and debilitated HIV-infected persons). It is advisable to take timely anti-epidemic measures with the implementation of specific prophylaxis for vulnerable categories of persons (listed above, as well as occupational risk groups), along with an increase in epidemic surveillance and strict infection control in compliance with International Health Regulations at checkpoints along the entire state border.

"Hidden threat". Case report

Nervous system tumors are not the most common cancer in the population. However, the clinical manifestations of brain tumors (BTs) are very multifaceted and can mask a wide range of pathologies, which poses a difficult task for doctors to suspect a cancer and start treating the patient as soon as possible. An atypical clinical course of the BTs is described, which caused a rather long path to diagnosis in a middle-aged patient.

Topical glucocorticosteroids: from high clinical efficacy to the problem of uncontrolled use (case report)

Due to their pronounced biological activity, glucocorticosteroids are widely used in various fields of medical practice. The variety of effects of these hormones makes them an important part of the treatment of dermatological patients. This group of drugs has a pronounced positive effect on various links in the pathogenesis of many chronic dermatoses due to anti-inflammatory, vasoconstrictive, immunosuppressive and antiproliferative effects. The creation of combined external preparations containing a glucocorticosteroid in combination with an antibacterial and/or antifungal component has become a significant achievement in dermatological practice. Due to the rapid relief of signs of inflammation, as well as additional antibacterial and antifungal effects, these external agents have become especially attractive to patients. Widespread advertising and over-the-counter sale of drugs containing glucocorticosteroids leads to the fact that a significant part of patients seek advice from a dermatologist only after their ineffective use. At the same time, their uncontrolled use can lead to a number of side effects, including both pathological changes in the skin and pronounced negative systemic reactions. This fact significantly changes the clinical picture of the disease, limits the possibilities of early laboratory diagnosis of infection, which often prolongs the time for verification of the diagnosis and complicates therapy. The article presents our own clinical observations of patients with skin mycoses who have been using combined topical preparations containing glucocorticosteroids for a long time. This led to an atypical clinical course of the infection and required additional diagnostics using histological examination. The analysis of clinical observations is intended to focus the attention of primary care physicians on this problem, which can increase patient awareness of the risks of using topical drugs containing glucocorticosteroids.

Predictors of high risk of atypical clinic of myocardial infarction

Objective: analysis of predictors allowing to predict a high probability of atypical clinical course of myocardial infarction (MI) at an early stage of development of acute coronary insufficiency before complex diagnostic procedures.Materials and methods: the study included patients from the Tomsk population with confirmed MI in the period 2001–2017, registered in the database "Register of Acute Myocardial Infarction" (ROIM) (n=7775). In 79.6% (n=6188), the clinical picture of MI was characterized by typical manifestations in the form of a prolonged angina attack (group 1), in the remaining 20.4%; patients (n=1587) recorded atypical manifestations of MI (group 2).Results: patients with atypical clinical manifestations of MI were more often represented by women, had an older age and a burdened comorbid background. The anamnesis of IM and coronary artery revascularization were more commonly recorded in a cohort of patients with typical clinical manifestations of coronary catastrophe. All parameters that demonstrated significant differences in patients with different types of clinical flow IM were included in the logistic regression model. As a result of a step-by-step procedure for elimination of factors, independent associations with the development of atypical symptoms of acute MI showed the following indicators: female sex, elderly age, IM history, type 2 diabetes mellitus, history of myocardial revascularization, atrial fibrillation, alcohol consumption before MI, obesity, smoking.Conclusion: female gender, elderly age, the presence of atrial fibrillation, diabetes mellitus, obesity and condition after alcohol intoxication predisposes to atypical acute MI, whereas male gender transferred to IM or revascularization, as well as smoking are currently more common in patients with a typical clinical pattern.

Guillain-Barré Syndrome with Atypical Clinical Course after BNT162b2 COVID-19 Vaccination

Guillain-Barré Syndrome with Atypical Clinical Course after BNT162b2 COVID-19 Vaccination

Difficulties in diagnosing involvement of the lungs and other internal organs using CT in a patient with Kaposi’s sarcoma and generalized tuberculosis during the COVID-19 pandemic: a case report

Kaposi’s sarcoma in association with generalized tuberculosis is a rare combination of two opportunistic HIV-associated diseases, and the difficulties of their detection are especially relevant in the context of the COVID-19 pandemic. To demonstrate a clinical case of multisystem involvement by Kaposi’s sarcoma and pulmonary tuberculosis in a patient admitted to an infectious diseases hospital with suspected viral pneumonia caused by a new coronavirus infection COVID-19. The patient complained of general weakness, shortness of breath with minimal physical exertion, heavy sweating, cough with yellow-green sputum, fever up to 37–39°С, lack of appetite and weight loss of 13 kg over the past six months. The analysis of clinical data, laboratory, instrumental and pathoanatomical studies performed in a St. Petersburg’s infectious diseases hospitals was carried out. CT findings of generalized lymphadenopathy combined with lung infiltrates in a patient with a positive PCR test for a new coronavirus infection (COVID-19) led to the overdiagnosis of a lymphoproliferative disease and did not allow for Kaposi’s sarcoma to be detected in vivo due to the absence of typical CT findings of disseminated tuberculosis in the presence of bilateral pneumonia. Radiologists should be aware of the clinical picture and signs of Kaposi’s sarcoma, it must be included in the differential diagnosis if a patient has an atypical clinical presentation and course of the disease, in the presence of skin rashes, even with a positive PCR for COVID-19.

An atypical course of a 71-year old man with right arm weakness and ataxia: Expert commentary

Dr Khemani and colleagues have presented a diagnostically challenging case of a sporadic, adult onset ataxia (SAOA) syndrome resembling Multiple System Atrophy cerebellar type (MSA-C), with an atypical presentation of focal amyotrophy, eventually diagnosed as spinocerebellar ataxia type 3 (SCA3) [ [1] Khemani P. Elliott M. Levine T. An Atypical Clinical Course of a 71-Year-Old Man with Right Arm Weakness and Ataxia. Parkinsonism Relat Disord, 2022 Abstract Full Text Full Text PDF Scopus (0) Google Scholar ]. The patient had presented elsewhere three years prior, with a Miller Fisher syndrome (MFS) associated with an elevated antiGQ1b antibody titer. However, as the patient had become wheelchair bound over the subsequent three years, the initial diagnosis of MFS is perhaps questionable. When evaluating ataxic disorders, it is important to establish the disease onset and course accurately. As the patient had a progressive cerebellar syndrome, the possible causes could be categorized broadly as: primary autoimmune (paraneoplastic or non-paraneoplastic); or neurodegenerative (sporadic or genetic). Primary autoimmune cerebellar ataxia encompassing paraneoplastic ataxia syndromes, and immune-mediated ataxias (gluten ataxia and anti-GAD65 ataxia) may present insidiously, with accumulating disability especially if timely and appropriate immunosuppressive therapies are not instituted [ [2] Hadjivassiliou M. Graus F. Honnorat J. Jarius S. Titulaer M. Manto M. Hoggard N. Sarrigiannis P. Mitoma H. Diagnostic criteria for primary autoimmune cerebellar ataxia-guidelines from an international task force on immune-mediated cerebellar ataxias. Cerebellum. 2020; 19: 605-610 Crossref PubMed Scopus (35) Google Scholar ].