Diagnostic criteria and therapeutic implications of rapid-onset demyelinating polyneuropathies.

Guillain-Barré syndrome (GBS) and acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) are the most common autoimmune polyneuropathies. Their aetiology is unclear. The pathomechanism includes damage mainly to the myelin sheath and, in the long-term process, secondary axonal loss. Both inflammatory polyneuropathies involve different combinations of motor, sensory and autonomic fibres in the peripheral nerves. The differential diagnosis should be based on clinical and neurophysiological features, and laboratory tests. Numerous studies aim to demonstrate the most common errors in the diagnosis of Guillain-Barré syndrome and acute-onset CIDP. Misdiagnosis can result in the wrong treatment. We still do not have reliable markers to help diagnose the disease or to monitor the effectiveness of the therapy.

Acute Onset of Peripheral Facial Nerve Palsy in Children: An Overview.

Background The facial nerve (FN) plays a pivotal role in human life; apart from its sensory and parasympathetic functions, it innervates the facial muscles, and it is therefore involved in non-verbal communication, allowing us to express emotions and reactions. Especially in the case of childhood onset, FN dysfunction can severely affect the quality of life. Methods The aim of this review is to analyze the most recent literature, focusing on the acute onset of peripheral FN palsy among pediatric patients, discussing the different etiologies, prognoses, and management strategies. A total of 882 papers were initially identified, but only 7 met the selection criteria. Therefore, data on 974 children in total were pooled and analyzed. Results According to the findings of this review, FN palsy is idiopathic in most cases, while an infective etiology was identified as the second most common. The main pathogen agents identified were Borrelia Burgdorferi, especially in endemic areas, and Herpesviridae. Respiratory tract infections and/or ear infections were also described. Head trauma or direct injury of the FN accounted for 2% of all cases. Conclusions The overall FN recovery rate is high, even though the etiology remains unknown for most patients. Therapeutic indications are still lacking, especially in the case of non-recovering FN palsy. In our opinion, large, prospective studies are necessary for improving our knowledge of this disorder and establishing evidence-based approaches.

IVIG response in pediatric acute-onset neuropsychiatric syndrome correlates with reduction in pro-inflammatory monocytes and neuropsychiatric measures.

Introduction: Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) is characterized by abrupt onset of obsessive-compulsive disorder or eating restriction along with the abrupt onset of other co-occurring symptoms (tics, behavioral and cognitive regression, etc.). PANS is thought to be a post-infectious immunopsychiatric disorder, although as with most post-infectious disorders, it is challenging to establish a causal relationship with proposed infectious triggers. Intravenous immunoglobulin (IVIG) can modulate inflammation and support the elimination of infection and has been used for treatment of many post-infectious inflammatory disorders and autoimmune conditions. The aim of the study is to explore the pro-inflammatory state in PANS before and after administration of IVIG. Methods: Children with moderate-to-severe PANS received six infusions of IVIG (Octagam 5%, Octapharma) every 3 weeks with post treatment follow-up. Blood samples and psychiatric measures were obtained at Visits 1 (pre-treatment), 7 and 8 (4 and 11 weeks after last infusion, respectively). Myeloid cell activation was assessed via flow cytometry. Results: All ten patients included in the study were male, White, with mean age 12.4 years (range 6-16). Statistically significant improvements following IVIG treatment were demonstrated in all psychometric assessments and parent questionnaires including CY-BOCS (obsessive compulsive scale), YGTSS (tic scale) and a parent PANS rating scale (for all scales p<0.001). The fraction of pro-inflammatory monocytes and dendritic cells decreased from pre-IVIG treatment levels. The proportional reductions were not compensated by increases in total white blood cells; pro-inflammatory monocytes post-IVIG were decreased as a proportion of CD14+ myeloid cells and in absolute number. Conclusions: The results of this study suggest that active PANS is associated with a pro-inflammatory state. This pro-inflammatory profile and psychometric scores improved following IVIG treatment. Future work will aim to further elucidate the roles of innate and adaptive immune responses in PANS and the regulatory mechanism(s) of IVIG in PANS treatment.

Patterns of acute chest pain at two tertiary centres in Accra, Ghana.

Objective: To assess the clinical presentation and evaluation of acute life-threatening chest pain in Accra, Ghana. Design: This was a cross-sectional study at the emergency departments of two leading tertiary hospitals in Accra. Settings: The study was conducted at the Korle-Bu Teaching Hospital and the 37 Military Hospital in Accra. Participants: The study participants comprised adult patients aged 18 years and above who presented with acute chest pain at the emergency departments between April and June 2018. Main Outcome: Acute coronary syndrome is the leading life-threatening cause of chest pain with poor pre- and in-hospital care. Results: 232 patients with chest pain were enrolled as respondents aged 18 to 94 years. The prevalence of life-threatening conditions causing chest pain was 31.9% of those who presented with acute chest pain. These included acute coronary syndrome (82.4%), pulmonary embolism (14.9%), and acute chest syndrome (2.7%). A few (6.6%) with life-threatening conditions such as acute coronary syndrome were transported by ambulances, and 44.3% reported to the facility within 2 to 9 days after the onset of chest pain. None of the patients with pulmonary embolism and acute chest syndrome had computer tomography pulmonary angiogram (CTPA) and echocardiogram done, respectively. Conclusion: Our study found that life-threatening conditions amongst patients presenting with acute chest pains are common; however, there is a need to improve pre-hospital care and in-hospital assessment of these cases. Funding: The study was partly funded by the Medtronic Foundation.

Occupational performance patterns in children with paediatric acute-onset neuropsychiatric syndrome.

INTRODUCTION: Paediatric acute-onset neuropsychiatric syndrome (PANS) is a neuroimmune condition characterised by episodic exacerbations and remissions. This study investigates the impact of PANS on children's occupational performance during these phases, using the Vineland Adaptive Behaviour Scale (VABS). Understanding these variations is crucial for developing tailored interventions and managing the condition effectively. METHODS: A two-period bidirectional case-crossover design was employed to assess occupational performance in children with PANS at exacerbation (T-E) and remission (T-R) phases. Parents of children aged 4.6-13.1 years with PANS were recruited globally, with data collected via online surveys and monthly updates. The VABS evaluated occupational performance, with analysis using linear mixed models and Least Squares Means (LSMeans) for accurate representation. RESULTS: Data from 27 participants showed significantly lower scores in the Adaptive Behaviour Composite and socialisation domain of the VABS at T-E compared with T-R, indicating a decline in occupational performance and social skills during exacerbations. During remission, participants demonstrated typical performance across all domains. CONCLUSION: The study highlights a marked decline in occupational performance and socialisation during PANS exacerbations, with improvements to typical levels during remission. These findings emphasise the need for targeted interventions to address occupational and social challenges in children with PANS during exacerbations, underscoring the episodic nature of the condition and the risk of misinterpreting behaviours if assessed during exacerbations. Multidisciplinary allied health support may benefit children with PANS. CONSUMER AND COMMUNITY INVOLVEMENT: Although there was no direct consumer and community involvement, two researchers on our team have family members with PANS. Their personal experiences provided vital insights into the challenges faced by children with PANS, deeply influencing our study's design, focus, and interpretation, ensuring it reflects the realities of those affected. PLAIN LANGUAGE SUMMARY: Our study looked at how PANS affects the things children do in their daily lives. We asked parents of children ages 4.6-13.1 years old to complete surveys measuring this at two times: once during a symptom flare-up and once during a period of wellness. Our results showed that during symptom flare-ups, children's social skills and general ability to do daily tasks were much lower compared with periods of wellness. When children were well, their abilities were similar to those of typically developing children of the same age. This highlights the need for occupational therapy during flare-ups to help improve the lives of children with PANS.

Relationships between sensory reactivity and occupational performance in children with paediatric acute-onset neuropsychiatric syndrome (PANS).

INTRODUCTION: Paediatric acute-onset neuropsychiatric syndrome (PANS) is a neurodevelopmental disorder affecting children's performance in a fluctuating manner. This study investigates the relationship between sensory reactivity and occupational performance in children with PANS during exacerbation phases. Understanding these relationships is crucial for developing tailored interventions and managing the condition effectively. METHODS: This study is part of a larger project in which a two-period bidirectional case-crossover design was employed to assess sensory reactivity and occupational performance in children with PANS. The current study used data from exacerbation phases only. Parents of children aged 4.6 to 13.1 years with PANS were recruited globally, and data were collected via online surveys. The Vineland Adaptive Behaviour Scale (VABS) evaluated occupational performance, and the Sensory Processing Measure (SPM) assessed sensory reactivity. Analysis utilised Pearson correlation to determine the relationships between sensory reactivity and occupational performance domains. RESULTS: Data from 60 participants who completed the SPM and 21 who completed the VABS showed moderate to strong negative correlations between the SPM total and several domain scores (vision, hearing, body awareness, balance, and motion) and the VABS Communication and Daily Living Skills scores, indicating that increased sensory reactivity is associated with decreased occupational performance during exacerbations. No significant correlation was found between sensory reactivity and socialisation skills. CONCLUSION: Findings highlight the significant relationship between sensory reactivity and occupational performance during PANS exacerbations, particularly in communication and daily living skills domains. Further research is needed to examine factors influencing socialisation skills and to assess the effectiveness of sensory interventions in improving occupational performance. CONSUMER AND COMMUNITY INVOLVEMENT STATEMENT: Although there was no direct consumer and community involvement, two researchers on our team have family members with PANS. Their personal experiences provided vital insights into the challenges faced by children with PANS, deeply influencing our study's design, focus, and interpretation, ensuring it reflects the realities of those affected. PLAIN LANGUAGE SUMMARY: We examined the relationship between children's daily activities and their sensory reactivity during PANS symptom flare-ups. Parents of children aged 4.6 to 13.1 years completed surveys measuring sensory reactivity and their children's performance of daily tasks. Our findings showed that during symptom flare-ups, children experienced significant difficulties with communication and daily living skills. These challenges were directly related to heightened sensory reactivity during flare-ups. This highlights the importance of providing targeted occupational therapy during these times to help children manage their symptoms and improve their daily functioning.

Cerebrospinal fluid characteristics of patients presenting for evaluation of pediatric acute-neuropsychiatric syndrome.

Objectives: This study characterizes cerebral spinal fluid (CSF) indices including total protein, the albumin quotient, IgG index and oligoclonal bands in patients followed at a single center for pediatric acute-neuropsychiatric syndrome (PANS) and other psychiatric/behavioral deteriorations. Methods: In a retrospective chart review of 471 consecutive subjects evaluated for PANS at a single center, navigational keyword search of the electronic medical record was used to identify patients who underwent lumbar puncture (LP) as part of the evaluation of a severe or atypical psychiatric deterioration. Psychiatric symptom data was ascertained from parent questionnaires and clinical psychiatric evaluations. Inclusion criteria required that subjects presented with psychiatric deterioration at the time of first clinical visit and had a lumbar puncture completed as part of their evaluation. Subjects were categorized into three subgroups based on diagnosis: PANS (acute-onset of severe obsessive compulsive disorder (OCD) and/or eating restriction plus two other neuropsychiatric symptoms), autoimmune encephalitis (AE), and "other neuropsychiatric deterioration" (subacute onset of severe OCD, eating restriction, behavioral regression, psychosis, etc; not meeting criteria for PANS or AE). Results: 71/471 (15.0 %) of patients underwent LP. At least one CSF abnormality was seen in 29% of patients with PANS, 45% of patients with "other neuropsychiatric deterioration", and 40% of patients who met criteria for autoimmune encephalitis. The most common findings included elevated CSF protein and/or albumin quotient. Elevated IgG index and IgG oligoclonal bands were rare in all three groups. Conclusion: Elevation of CSF protein and albumin quotient were found in pediatric patients undergoing LP for evaluation of severe psychiatric deteriorations (PANS, AE, and other neuropsychiatric deteriorations). Further studies are warranted to investigate blood brain barrier integrity at the onset of the neuropsychiatric deterioration and explore inflammatory mechanisms.

Spontaneous Coronary Artery Dissection in the Late Third Trimester of Pregnancy.

Acute coronary syndrome due to a non-atherosclerotic, non-traumatic, or iatrogenic-induced spontaneous coronary artery dissection (SCAD) is a rare clinical condition that affects mostly young women of reproductive age. In this case, we present a 36-week-pregnant, 35-year-old G2P1 woman, with no previous medical history, who was admitted to our hospital with premature pre-labor contractions. During her hospitalization, she underwent a coronary artery percutaneous angiography revealing SCAD of the three coronary vessels, after an episode of acute-onset chest pain, tachypnea, EKG alterations, cardiac enzyme elevation, and bilateral pleural effusions. An emergency cesarean delivery was performed and the patient was transferred to the cardiology intensive care unit. Conservative management was decided and the woman was discharged a few days later.

Early differential diagnosis between acute inflammatory demyelinating polyneuropathy and acute-onset chronic inflammatory demyelinating polyneuropathy in children: Clinical factors and routine biomarkers.

BACKGROUND: To identify clinical factors and biomarkers that could contribute to early differential diagnosis of acute inflammatory demyelinating polyneuropathy (AIDP) and acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) in the pediatric population, with limited evidence. METHODS: We conducted an observational retrospective study of children diagnosed with AIDP and A-CIDP between January 2014 and December 2022. Demographic data, clinical features, and routine biomarkers were also analyzed. Statistical analysis was used to identify significant features with high sensitivity and specificity. RESULTS: We included 91 AIDP and 17 A-CIDP patients. The A-CIDP group had an older median age (6.33 vs. 4.33 years, p = 0.017), required more complex immunotherapies (p < 0.001), and showed a longer time to nadir over 2 weeks (76.5 % vs. 7.7 %, p < 0.001). Gastrointestinal dysfunction (29.4 % vs. 6.59 %, p = 0.014) and numbness (35.3 % vs. 12.1 %, p = 0.027) were more prevalent in A-CIDP. The AIDP patients had a longer median hospitalization stays (13 vs. 11 days, p < 0.05), more prodromal events (90.1 % vs. 64.7 %, p = 0.013), and more frequent cranial nerve palsy (61.5 % vs. 5.88 %, p < 0.001). The disability scores on admission, discharge, and peak were worse in the AIDP group (p < 0.001). AIDP patients showed higher cerebrospinal fluid protein (p = 0.039), albumin quotient (p = 0.048), leukocytes (p = 0.03), neutrophils (p = 0.010), platelet count (p = 0.005), systemic inflammatory index (SII) (p = 0.009), and gamma-glutamyl transferase (p = 0.039). Multivariable regression identified two independent predictors of early A-CIDP detection: time from onset to peak beyond 2 weeks (OR = 37.927, 95%CI = 7.081-203.15) and lower modified Rankin Scale score on admission (OR = 0.308, 95%CI = 0.121-0.788). CONCLUSION: Our study found that when the condition continued to deteriorate beyond two weeks with a lower mRS on admission and possibly less cranial nerve involvement, we may favor the diagnosis of pediatric A-CIDP rather than AIDP.

Reliability and validity of a newly developed PANDAS/PANS questionnaire.

OBJECTIVE: This study aimed to examine the reliability and validity of a newly developed questionnaire for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) and Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). The aim was to contribute to future standardisation of screening methods for symptoms and comorbidity, as well as the measurement of symptom severity, daily life impairment, and treatment effectiveness in individuals diagnosed with PANDAS/PANS. METHODS: 27 items from the PANDAS/PANS questionnaire concerning symptoms and comorbidities associated with PANDAS/PANS were divided into ten domains. To assess the external validity, 119 PANDAS/PANS questionnaires from a cohort of 65 children with PANDAS/PANS were correlated with three well-known validated questionnaires: the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS), Attention Deficit Hyperactivity Disorder Rating Scale (ADHD-RS), and the Strengths and Difficulties Questionnaire (SDQ). The internal validity of the PANDAS/PANS questionnaire was assessed by correlating the PANDAS/PANS items with the domains. RESULTS: Internal consistency of the PANDAS/PANS questionnaire was high, measuring moderate to very strong correlations. The external correlations for the PANDAS/PANS questionnaire showed a higher correlation with the ADHD-RS and CY-BOCS (rs ≥ 0.60) than with the SDQ (rs < 0.40). CONCLUSION: The validity and clinical feasibility of the PANDAS/PANS questionnaire were confirmed as an effective tool for screening symptoms, assessing symptom severity, and evaluating comorbidity and daily life impairment in individuals with PANDAS/PANS. These findings can potentially enhance the management of PANDAS/PANS patients in both clinical and research settings.

Acute presentation of autoimmune hepatitis -from acute hepatitis to ALF and ACLF.

Acute presentation of autoimmune hepatitis (AIH) occurs in 22-43% of all AIH cases, and is not a rare condition. Rather than constituting a single disease entity, it represents a clinical spectrum characterized by considerable variability in severity and the presence of preexisting chronic AIH. This spectrum ranges from acute AIH and acute severe AIH to AIH presenting as acute liver failure (ALF) or as acute-on-chronic liver failure (ACLF), contingent upon factors such as coagulopathy, hepatic encephalopathy, and underlying liver disease. Diagnosing acute presentation of AIH can be particularly challenging due to the frequent absence of classical serologic signatures such as autoantibodies and elevated IgG levels. Histopathological examination remains essential for diagnosis, typically necessitating percutaneous or transjugular liver biopsy. Corticosteroids (CS) are recommended for the management of acute AIH and acute severe AIH with coagulopathy. However, the therapeutic response to CS should be meticulously monitored. If a poor response is anticipated, liver transplantation (LT) should be promptly considered. For AIH presenting as ALF with encephalopathy or ACLF with advanced underlying liver disease, LT is generally advised. Nonetheless, there is potential for a trial of CS therapy in cases of ALF with low MELD scores or ACLF without encephalopathy. This review provides an overview of the latest findings concerning the definition, diagnosis, and management of acute presentation of AIH.

An Unusual Case of Bicuspid Aortic Valve With Prolapse Masquerading as Cusp Perforation.

We present a unique clinical scenario of a 58-year-old male with a past medical history of hypertension who initially presented with chest pain and was ruled in for non-ST elevation myocardial infarction (NSTEMI) but rapidly developed respiratory failure secondary to aortic insufficiency complicated by cardiogenic shock (CS), attributed to aortic valve prolapse. Intriguingly, the patient had a normal ECG on presentation, underscoring the dynamic nature of valvular pathology. The development of CS highlights the importance of early recognition, prompt diagnosis, and interdisciplinary management in such complex cases.

Differentiating recurrent Guillain-Barre syndrome and acute-onset chronic inflammatory polyneuropathy: literature review.

Guillain-Barre syndrome (GBS) is an acute-onset immune-mediated polyneuropathy characterized by ascending symmetrical muscle weakness, diminished reflexes, and sensory symptoms. While GBS typically follows a monophasic course, some patients experience treatment-related fluctuations or recurrences, posing diagnostic challenges in distinguishing GBS from acute-onset chronic inflammatory polyneuropathy (A-CIDP). A-CIDP, may present acutely, simulating GBS, with a nadir in less than 8 weeks, subsequently evolving into a chronic or relapsing course. The distinction between recurrent GBS and A-CIDP is crucial, as A-CIDP necessitates long-term immunosuppression. A PubMed search was conducted using the search terms 'recurrent Guillain Barre syndrome' and 'acute onset CIDP' focusing on studies in the English language, published between January 1, 2004 and April 30, 2023. Overlapping clinical features, particularly in the early stages, complicate differentiation between recurrent GBS and CIDP. Electrophysiological studies, ultrasonography, and immunological markers have been explored for discrimination; however, definitive criteria for differentiation remain elusive. Recent follow-up studies have further blurred the boundaries between recurrent GBS and A-CIDP, suggesting the persistence of underlying immune processes even in GBS patients without clinical deterioration. This emphasizes the necessity of reevaluating diagnostic criteria and treatment strategies. In conclusion, distinguishing recurrent GBS from A-CIDP remains an ongoing challenge. Existing evidence questions the categorization of recurrent GBS as a distinct entity, challenging its very existence. Continued research is necessary to refine diagnostic criteria and deepen our understanding of these conditions, ultimately advancing patient care. This review delves into the intricacies of recurrent GBS and A-CIDP differentiation and highlights the need for a reevaluation of the recurrent GBS concept.

A Case of Type 1 Diabetes Mellitus With Endogenous Insulin Secretory Depletion Confirmed in Two Weeks.

Type 1 diabetes mellitus (T1DM) is manifested as a decrease in endogenous insulin secretion. With this report, we present a case of T1DM where a rapid decline in insulin secretion was observed in a short span of time. A 56-year-old female patient presented with cold-like symptoms with subsequent dry mouth and malaise to the hospital. Three weeks later, she was diagnosed with diabetic ketoacidosis based on the presence of hyperglycemia, metabolic acidosis, and positive ketone bodies. Her serum connecting peptide (CPR) levels substantially decreased (1.31 to 0.19 ng/mL after two weeks) and she was eventually diagnosed with T1DM. We hypothesized that a subtype T1DM with a longer beta cell loss rate than conventional fulminant type 1 diabetes was involved. This subtype showed characteristics of immune checkpoint inhibitor-associated fulminant type 1 diabetes and is suggested to exist among those diagnosed with conventional acute-onset type 1 diabetes. Finally, we recommend that diabetic ketoacidosis of unknown etiology should be investigated for the concurrent presence of T1DM.

A study on the role of serum uric acid in differentiating acute inflammatory demyelinating polyneuropathy from acute-onset chronic inflammatory demyelinating polyneuropathy.

BACKGROUND AND PURPOSE: Clinical symptoms and laboratory indices for acute inflammatory demyelinating polyneuropathy (AIDP), a variant of Guillain-Barré syndrome, and acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) were analyzed to identify factors that could contribute to early differential diagnosis. METHODS: A retrospective chart review was performed on 44 AIDP and 44 A-CIDP patients looking for any demographic characteristics, clinical manifestations or laboratory parameters that might differentiate AIDP from acutely presenting CIDP. RESULTS: In Guillain-Barré syndrome patients (N = 63), 69.84% (N = 44) were classified as having AIDP, 19.05% (N = 12) were found to have acute motor axonal neuropathy, 6.35% (N = 4) were found to have acute motor and sensory axonal neuropathy, and 4.76% (N = 3) were found to have Miller Fisher syndrome. Serum uric acid (UA) was higher in A-CIDP patients (329.55 ± 72.23 µmol/L) than in AIDP patients (221.08 ± 71.32 µmol/L) (p = 0.000). Receiver operating characteristic analyses indicated that the optimal UA cutoff was 283.50 µmol/L. Above this level, patients were more likely to present A-CIDP than AIDP (specificity 81.80%, sensitivity 81.80%). During the follow-up process, serum samples were effectively collected from 19 AIDP patients during the rehabilitation phase and 28 A-CIDP patients during the remission stage, and it was found that UA levels were significantly increased in A-CIDP (remission) (298.9 ± 90.39 µmol/L) compared with AIDP (rehabilitation) (220.1 ± 108.2 µmol/L, p = 0.009). CONCLUSION: These results suggest that serum UA level can help to differentiate AIDP from A-CIDP with high specificity and sensitivity, which is helpful for early diagnosis and guidance of treatment.

Baseline characteristics of children in the International PANS Registry (IPR) Epidemiology Study.

PURPOSE: The International PANS Registry (IPR) Epidemiology Study is a registry-based, longitudinal study. We designed this study to improve phenotyping and characterisation of children with paediatric acute-onset neuropsychiatric syndrome (PANS) and PANS-like features and facilitate multidisciplinary and translational health research. This cohort provides new opportunities to address unresolved research questions related to the broad spectrum of heterogenous PANS-like conditions. PARTICIPANTS: Inclusion in the IPR Epidemiology Study remains open indefinitely via IPR enrolment online. Participants include children with PANS or who have PANS-like features and their healthy siblings. We collected cross-sectional survey data based on parent report, including details on phenotypic traits and characteristics that, to our knowledge, have not been previously collected for this patient population. We describe the baseline characteristics of cases and their healthy siblings here. FINDINGS TO DATE: The IPR Epidemiology Study currently includes 1781 individuals (1179 cases, 602 siblings; from 1010 households). Many households include a sibling (n=390, 39%) and some include multiple cases (n=205, 20%). Mean enrolment age was 11.3±4.3 years for cases and 10.1±5.3 for siblings. Leading PANS-like features include anxiety (94%), emotional lability (92%) and obsessions (90%). Onsets were sudden and dramatic (27%), gradual with a subsequent sudden and dramatic episode (68%) or a gradual progression (5%). The mean age at early signs/symptom onset was 4 years and 7 years at sudden and dramatic increases, respectively. Infection/illness was the most common suspected symptom trigger (84%). Nearly all cases had been treated with antibiotics (88%) and/or non-steroidal anti-inflammatory drugs (79%). Parents reported immune-related conditions in cases (18%) and their nuclear, biological family (48%; 39% in biological mothers). FUTURE PLANS: Future plans include increasing sample size, collecting longitudinal survey data, recruiting appropriate study controls and expanding the scope of the database, prioritising medical record data integration and creating a linked biorepository. Secondary data analyses will prioritise identifying subgroups by phenotypic traits, maternal health and disease characteristics.

The evolving phenotype of autoimmune hepatitis across the millennium: The 40-year experience of a referral centre in Italy.

BACKGROUND AND AIMS: During recent years, there have been major insight into the pathogenesis, diagnosis and treatment of autoimmune hepatitis (AIH). We aim to evaluate modifications of the clinical-epidemiological phenotype of AIH patients from 1980 to our days. METHODS: Single-centre, tertiary care retrospective study on 507 consecutive Italian patients with AIH. Patients were divided into four subgroups according to the decade of diagnosis: 1981-1990, 1991-2000, 2001-2010 and 2011-2020. We assessed clinical, laboratory and histological features at diagnosis, response to treatment and clinical outcomes. Acute presentation is defined as transaminase levels >10-fold the upper limit and/or bilirubin >5 mg/dL. Complete response is defined as the normalization of transaminases and IgG after 12 months. Clinical progression is defined as the development of cirrhosis in non-cirrhotic patients and hepatic decompensation/hepatocellular carcinoma development in compensated cirrhosis. RESULTS: Median age at diagnosis increased across decades (24, 31, 39, 52 years, p < .001). Acute onset became more common (39.6%, 44.4%, 47.7%, 59.5%, p = .019), while cirrhosis at diagnosis became less frequent (36.5%, 16.3%, 10.8%, 8.7%, p < .001). Complete response rates rose (11.1%, 49.4%, 72.7% 76.2%, p < .001) and clinical progression during follow-up decreased (54.3%, 29.9%, 16.9%, 11.2%, p < .001). Anti-nuclear antibodies positivity increased (40.7%, 52.0%, 73.7%, 79.3%, p < .001), while IgG levels/upper limit progressively decreased (1.546, 1.515, 1.252, 1.120, p < .001). Liver-related death and liver transplantation reduced from 17.1% to 2.1% (p < .001). CONCLUSIONS: In the new millennium, the typical AIH patient in Italy is older at diagnosis, more often presents with acute hepatitis, cirrhosis is less frequent and response to treatment is more favourable.

Sensory processing in children with Paediatric Acute-onset Neuropsychiatric Syndrome.

INTRODUCTION: Previous research indicates that children with Paediatric Acute-onset Neuropsychiatric Syndrome (PANS) experience sensory reactivity differences that impact occupational performance. The purpose of this study was to determine whether there are differences in sensory reactivity in these children across two different time points; during exacerbation and during remission, using the Sensory Processing Measure (SPM) Home-Form. The study also sought to investigate whether children with PANS experience sensory differences during remission periods, when compared with SPM Home-Form norms. METHODS: A two-period bidirectional case-crossover design was used, and an online assessment was conducted to measure sensory reactivity. Parents of children aged 4.6 to 13.1 years with a diagnosis of PANS were recruited from various sites across Australia, USA, England, Ireland, Scotland, Canada, and New Zealand. The SPM Home-Form was used to measure sensory reactivity at two time points, when PANS was in remission (T-R) and in exacerbation (T-E). Study entry was permitted at either T-E or T-R. Participant exacerbation status was monitored over a maximum 12-month period, and a follow-up SPM Home-Form was sent when a change in exacerbation status was indicated. A linear mixed model was used to assess the difference between SPM Home-Form norm-referenced scores during exacerbation and remission. RESULTS: The study included 82 participants, with 80 providing data at study entry, and 27 providing data at follow-up. Results showed a statistically significant decline in performance across the SPM Home-Form domains of Hearing, Social Participation, Planning and Ideas, and Total Sensory Systems T-scores during exacerbation when compared with remission data. Results also demonstrated atypical sensory reactivity across Vision, Hearing, Touch, Balance and Motion, and Total Sensory Systems domains during periods of remission compared with SPM Home-Form norms. CONCLUSION: This study found that children with PANS experience significant sensory reactivity differences during exacerbation and remission across multiple sensory domains, with a decline in performance during exacerbation. Where there are occupational performance challenges, occupational therapists should consider administering sensory assessments so that effective intervention plans addressing the unique sensory reactivity needs of children with PANS can be developed.

Sellar Mass in 2 Patients With Acute-Onset Headache and Visual Symptoms: Not Your Usual Pituitary Adenoma.

Background/Objective: Clinical diagnosis of rare aggressive sellar malignancies requires a high index of suspicion. The objective was to report 2 patients with primary sellar atypical teratoid (AT)/rhabdoid tumor (RT) who presented with acute-onset headache and visual symptoms. Case Report: Patient 1 was a 45-year-old woman who presented with 3 weeks of headache and 1 week of eye pain and diplopia. Magnetic resonance imaging (MRI) identified a 2.2-cm sellar mass. Pituitary hormone testing showed elevated prolactin and suppressed luteinizing hormone, follicle-stimulating hormone, and estradiol levels. Patient 2 was a 32-year-old woman who presented with 1 month of headache and 1 week of diplopia. MRI showed a 2.1-cm sellar mass. Hormonal test results were reportedly unremarkable. Both patients did not have a significant medical history. They each underwent transsphenoidal resection. Surgical histology and molecular studies were consistent with primary sellar AT/RT. After surgery, patient 1 developed bilateral blindness and was lost to follow-up. Patient 2 developed hypopituitarism; her visual symptoms improved temporarily but recurred 2 weeks later. Pituitary MRI showed sellar recurrence. She underwent further debulking, but the tumor recurred promptly again. Despite radiation therapy, she died 4 months after the original presentation. Discussion: AT/RT appears to be the most aggressive sellar malignancy. Conclusion: Based on the 2 cases presented and the literature, I conclude that rapidly progressive headache with subsequent visual impairment in women with large sellar masses is almost pathognomonic of sellar AT/RT.