Clinical Presentation Features Research Articles

Features of the clinical course of Autoimmune Encephalitis Associated with various antibodies.

Despite the increasing incidence of autoimmune encephalitis and the incomplete recovery observed in patients post-affliction, the issue of timely diagnosis remains unresolved. The primary objective of this study is identification the distinctive clinical presentation features evaluation the management strategies, and assess the outcomes of the disease in patients with various forms of autoimmune encephalitis. The research aims to contribute in a better understanding of the disease progression and facilitate the selection of optimal therapeutic interventions. A retrospective observational study enrolled 68 patients aged 18 years and older with verified autoimmune encephalitis who underwent treatment in state hospitals in Sofia, Bulgaria, from the beginning of 2014 to the end of 2022. The number of patients with pathology linked to antibodies against glycine receptors (Gly-R) was half as much, with 32 and 17 patients, respectively. The primary manifestations of autoimmune encephalitis included cognitive impairments observed in 51 patients, seizures occurring in 44 patients, and mood disorders observed in 22 patients. While the findings of imaging studies were nonspecific, hospitalizations for patients with this pathology, especially those with antibodies to CASPR2 and DPPX, were prolonged (114 and 232 days, respectively). In the vast majority of cases, incomplete recovery with residual symptoms was noted. Among the diverse forms of autoimmune encephalitis, the most prevalent is NMDA-R. Cognitive impairments predominate in the autoimmune encephalitis clinical presentation. Prolonged hospitalization periods and incomplete recovery of patients are characteristic features of autoimmune encephalitis, despite combined therapy involving intravenous administration of methylprednisolone and immunoglobulins.

Demographics, clinical features and genetics of inherited arrhythmias in Oman

Abstract Background Inherited arrhythmia syndromes (IAS) are a group of rare disorders that result from genetic mutations in several genes encoding ion channels causing disruption in its structure and function and predispose affected individuals to various symptoms including sudden cardiac death (SCD). They include congenital long QT syndrome, Brugada syndrome (BrS), progressive cardiac conduction disease, short QT syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). There have been few reports of long QT syndrome from the Arabian Gulf region but this is the first comprehensive review of multiple inherited arrhythmia syndromes in the region. Objectives Our objective are to describe the demographics of children and adults with inherited arrhythmia syndromes, report the presenting clinical features, genetic mutations and management strategies. Also, to report some unique and rare genetic findings in our population. Methods This is a descriptive retrospective study that included children and adults with inherited arrhythmia syndromes diagnosed and treated at a national heart center over 16 years, between 2006 to 2022. Data collected included patient demographics, geographical distribution, clinical features, genetic reports and management strategies. Result One hundred and six patients were included in the analysis. Sixty-six (62.3%) were males, and 68 (64.2%) were adults and 38 (35.8%) were children. Three inherited arrhythmia syndromes were found in our population that included Long QT, Brugada and catecholaminergic polymorphic ventricular tachycardia (CPVT), which accounted for 58 (54.7%), 39 (36.8%) and 9 (8.5%), respectively. Seventy-six (71.7%) of the patients were reported to be from consanguineous families. Most children, 31 (91.4%) had long QT, whereas most adults, 39(54.9%) had Brugada. The clinical features varied based on the type of arrhythmia. There were 28(26.4%) asymptomatic individuals who were diagnosed incidentally. Syncope was the most common presenting symptom in patients with Long QT, 24(41.4%) and Brugada syndrome, 20(51.3%). Palpitations, 4(44.4%) and bradycardia, 4(44.4%) were the predominant presenting features in patients with CPVT. The treatment modalities included beta blockers and antiarrhythmics, implantable cardioversion defibrillators(ICDs), pacemakers, and left sympathetic ganglionectomy(LSGs). We identified 36 individuals with pathogenic or likely pathogenic variants and 12 VOUS(variants of uncertain significance) in different genes of IAS. Conclusion This is the first comprehensive study on the inherited arrhythmia syndromes in Oman and the Arabian Peninsula. We provided insights about demographics, clinical, genetic profile and the treatment strategies of the most common IAS in the region. Tis study hat will help in early detection of the different types of arrhythmias and early intervention to prevent sudden cardiac death in patients and their relatives.

#1063 Presentation, treatment, and outcome of IgA nephropathy in children: comprehensive characterization of a Croatian single centre cohort

Abstract Background and Aims IgA nephropathy (IgAN) is a complex disease diagnosed only upon evaluation of a kidney biopsy. Since the threshold to perform this invasive procedure is higher and symptoms usually more indolent in children, the true prevalence might be underestimated, with fewer studies examining the presentation, treatment, and outcome of IgAN in paediatric population. Moreover, there is a substantial heterogeneity of clinical presentation and pathological features between geographical locations, with fewer data available for region of central and southern Europe. We therefore aim to provide a conscientious description of a paediatric IgAN cohort followed for an extended period of time in a centre caring for most of the Croatian paediatric patients. Method Single centre retrospective study of children newly diagnosed as IgAN since 2011 and followed for >2 years in a tertiary referral centre for paediatric nephrology of the Republic of Croatia. Results Total of 15 paediatric (<18 years) patients were included, of which 11 (73%) were male, 14 Caucasians and 1 of Roma origin. All the patients had proteinuria (>150 mg/day) and hematuria (>5 RBC/mm3 in uncentrifuged urine) at the time of the biopsy, with the mean age of 12.2 ± 3.6 years. The median eGFR was 87 (69 – 111) mL/min/1.73m2 and the median value of proteinuria 260 (150 – 370) mg/day. More specifically, 2 patients had mild proteinuria (<20 mg/kg/day), 12 had moderate (20 – 50 mg/kg/day) and 1 had nephrotic range (>50 mg/kg/day). The results of biopsy in terms of MEST-C score showed M1 in 4, E1 in none, S1 in 3, T1 in 4, T2 in 0, C1 in 2 and C2 in none of the patients. The IF was positive for IgA and C3 in all patients, and in 1 for C1q. There was no significant correlation between C3 intensity values (0-4+) and 24 h proteinuria (r = 0.49, p = 0.06) or eGFR (r = −0.22, p = 0.43). Hypertension (≥95 percentile for age) was present in 2 (13%) patients. The median risk of a 30% decline in eGFR or progression to end-stage renal disease 5 years after renal biopsy calculated by International IgAN prediction tool for use in paediatric patents was 8.03% (4.58 – 11.27). Initial presenting episode was treated with ACEi in 7 (47%) and with glucocorticoids in 4 (27%) patients. There was no significant difference in proteinuria (p = 0.19) or risk of decline in eGFR or progression to ESRD (p = 0.16) among treated and untreated patients. In all of the treated patients proteinuria reached a target of <20 mg/kg during the median time of 11 (6 – 21) months. The median follow up was 6.5 (2.8 – 11.1) years. During the follow up 5 patients experienced first relapse of proteinuria, 3 had second and none had third relapse. None of the patients had adverse event related to medications. None were treated with renal replacement therapy or other immunomodulatory drugs. Tonsillectomy was performed in two patients with a substantial improvement of haematuria episodes reported by caregivers. Omega-3 polyunsaturated fatty acid was used in 1 patient. While none of the patients developed CKD during the follow up, none have reached complete renal remission defined as eGFR >90 ml/min/1.73m2, proteinuria <150 mg/day and RBC < 5/mm3 in urinalysis. Conclusion All the patients in our cohort had indolent disease with proteinuria, along with low risk of decline in eGFR or progression to ESRD after biopsy. Almost half of them were treated with ACEi, and a quarter with glucocorticoids, all with beneficial response. Nevertheless, none of the patients in the cohort achieved full renal remission due to the persistent hematuria. While there are few well performed studies on the treatment of IgAN in adult patients, to date, there are no high-quality randomised studies on immunosuppressing and other drugs, as well as nutritional and other interventions in children with IgAN, prompting a case-to-case decision regarding the use of various therapeutic modalities. Therefore, well characterized cohorts from around the globe might provide further reassurance for physicians taking care of children with this intricating disease, support when deciding to commence the intervention and inform while selecting the most appropriate form.

Short colon syndrome in cats.

Shortening of the colon has been described in cats, but its imaging and clinicopathological features remain poorly understood. Description of the signalment, clinical presentation, imaging, endoscopic and histological features of short colon syndrome in cats. Ninety-three cats diagnosed with short colon. Multi-institutional, descriptive, retrospective case series study. Medical records were searched for a diagnosis of short colon on abdominal ultrasonography, computed tomography, endoscopy, autopsy, or a combination of these modalities. The median age of included cats was 12 years at the time of diagnosis. Diarrhea was the most common clinical sign (60/92; 65%), followed by vomiting (36/92; 39%), weight loss (36/92; 39%), and inappetence (24/92; 26%). Thirteen percent of cats (12/92) had no signs of gastrointestinal disease at the time of diagnosis. In addition to a shortened colonic length, 79% (66/84) of cats had concomitant colonic thickening on ultrasonographic examination. On colonoscopy, mucosal ulcerations of the colonic wall were seen in 39% (9/23) of cats. Histopathologically, all cats but 1 (diagnosed simultaneously with colonic small cell lymphoma) had lymphoplasmacytic colitis, and when small intestinal biopsies were performed, concurrent lymphoplasmacytic enteritis or small cell lymphoma of the small intestine. Lymphoplasmacytic colitis is seen commonly in cats with short colon, suggesting a potential link between these entities.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

BackgroundFragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both FXTAS and neuronal intranuclear inclusion disease (NIID) belong to polyglycine diseases and present similar clinical, radiological, and pathological features, making it difficult to distinguish these diseases. Reversible encephalitis-like attacks are often observed in NIID. It is unclear whether they are presented in FXTAS and can be used for differential diagnosis of NIID and FXTAS.Case presentationA 63-year-old Chinese male with late-onset gait disturbance, cognitive decline, and reversible attacks of fever, consciousness impairment, dizziness, vomiting, and urinary incontinence underwent neurological assessment and examinations, including laboratory tests, electroencephalogram test, imaging, skin biopsy, and genetic test. Brain MRI showed T2 hyperintensities in middle cerebellar peduncle and cerebrum, in addition to cerebellar atrophy and DWI hyperintensities along the corticomedullary junction. Lesions in the brainstem were observed. Skin biopsy showed p62-positive intranuclear inclusions. The possibilities of hypoglycemia, lactic acidosis, epileptic seizures, and cerebrovascular attacks were excluded. Genetic analysis revealed CGG repeat expansion in FMR1 gene, and the number of repeats was 111. The patient was finally diagnosed as FXTAS. He received supportive treatment as well as symptomatic treatment during hospitalization. His encephalitic symptoms were completely relieved within one week.ConclusionsThis is a detailed report of a case of FXTAS with reversible encephalitis-like episodes. This report provides new information for the possible and rare features of FXTAS, highlighting that encephalitis-like episodes are common in polyglycine diseases and unable to be used for differential diagnosis.

Clinical Presentation and Neuro-Ophthalmological Features in Spinocerebellar Ataxia Type 3: A Case Report and Literature Review.

Clinical Presentation and Neuro-Ophthalmological Features in Spinocerebellar Ataxia Type 3: A Case Report and Literature Review.

Spectrum of skeletal dysplasia in short stature children in tertiary care hospital.

Objective: To evaluate the spectrum of skeletal dysplasia in short stature children at National Institute of Child Health (NICH), Pakistan. Study Design: Case Series study. Setting: Department of Endocrinology, NICH, Karachi, Pakistan. Period: January 2022 to November 2023. Methods: Short statured (height < -2.0 SD) children of either gender aged between 1 month up to 16 years and diagnosed with skeletal dysplasia were analyzed. At the time enrollment, gender, age, anthropometric measures, antenatal history, and family history were noted. Complete skeletal survey was performed. Results: In a total of 131 short statured children with skeletal dysplasia, 77 (58.8%) were male. The mean and median age were 5.54±4.33 and 5.0 (1.5-8) years. Consanguinity was reported in 85 (64.9%) cases whereas siblings were affected among 9 (6.9%) cases. The most frequent presenting complaints and clinical features were joint pain, facial dysmorphism, movement limitations, and infections, reported by 67 (51.1%), 67 (51.1%), 65 (49.6%), and 63 (48.1%) children respectively. Mucopolysaccharidosis (29.0%), achondrodysplasia (13.7%), and osteogenesis imperfecta (10.7%) were the most common types of skeletal dysplasia. Conclusion: Mucopolysaccharidosis, achondrodysplasia, and osteogenesis imperfecta were the most frequent types of skeletal dysplasia. The most frequent presenting complaints and clinical features were joint pain, facial dysmorphism, movement limitations, and infections. The high prevalence of consanguinity and familial history emphasizes a probable genetic basis for skeletal dysplasia.

Pediatric arterial ischemic stroke; Risk factors, clinical presentation and short-term outcome of patients presenting at a tertiary care hospital.

Objective: To determine the risk factors, clinical presentation and short term outcome in children presenting with arterial ischemic stroke at a tertiary care hospital. Study Design: Prospective Observational study. Setting: Medical Units of National Institute of Child Health, Karachi, Pakistan. Period: November 2022 October 2023. Methods: Children of either gender aged between 1 month to 12 years and admitted with the diagnosis of pediatric arterial ischemic stroke during the study duration were analyzed. Detailed medical and neurological examinations were performed. Routine work up and laboratory investigations were done. Modified Rankin Scale (MRS) scores at the time of enrollment, discharge and after 3 month follow-up were recorded. Results: In a total of 35 children, 21 (60.0%) were boys the mean age was 6.89±3.63 years. The most frequent presenting clinical features were focal neurological deficits noted in 29 (82.9%) children whereas fever, and fits were reported in 26 (74.3%), and 22 (62.9%) children, respectively. Right hemiplegia was observed in 15 (42.9%) children. Stroke was secondary to moyamoya 8 (22.9%), infections in 6 (17.1%) children. Mortality was reported among 3 (8.6%) children while 3 others lost during the follow ups. Comparison of mean mRS scores at the time of admission, discharge and after 3 months showed significant reduction (p<0.001). Conclusion: Focal neurological deficits were the predominant clinical features, with a significant incidence of associated fever and seizures. Moyamoya and infections emerged as primary causative factors. Despite a mortality rate of 8.6%, there was an overall improvement in outcomes, as evidenced by a significant reduction in Modified Rankin Scale scores at admission, discharge, and after three months.

A clinical decision instrument for head CT in intoxicated patients presenting to the emergency department: the DITCH study

Performing head CT in intoxicated patients presenting to the emergency department (ED) is common, yet low yield. In our previous study, acute findings were found only in patients with at least one of: neurological Deficits, Intubation, Trauma, Convulsions or Headache. We hypothesise that the absence of these DITCH clinical features rules out the need for immediate CT. We collected data for intoxicated patients attending EDs in our district from March 2021 to May 2022 inclusive. We recorded clinical presentation features, agents, disposition and head CT results. There were 1,308 intoxicated patients out of a total of 219,273 ED presentations. Median age was 38 years. Common ingestions were ethanol, stimulants, GABA-ergics and opioids. 407 patients (31%) had head CT, with 31 patients (7.6%) having 36 acute findings: 19 intracranial haemorrhages, 8 fractures, 2 cerebral oedema and 7 haematomas. All patients with acute CT findings had one of the DITCH features, and all had trauma. The sensitivity and NPV of the hypothesis were 100%. In patients that were not scanned, there were no re-presentations.Our internal validation study is further evidence that acute findings on head CT in intoxicated patients presenting to the ED are only found in those who had one of the DITCH features.

The Covert Impact of Chiari Network and Eustachian Valves on Stroke: A Scoping Review and Meta-Analysis.

The role of Chiari network (CN) and Eustachian valves (EVs) in cardioembolic strokes is still unclear. There is inconsistency in the literature regarding clinical approach to these lesions to reduce stroke risk. We aimed to describe clinical presentation, neuroimaging and cardioimaging features, as well as management approaches for CN and EV in stroke context. A systemic search was carried out using PubMed and Web of Science following PRISMA guidelines, Supplemental Digital Content 1 ( http://links.lww.com/NRL/A123 ). We retrieved 4 case-control studies, 2 cross sectional studies as well 8 case reports, with a total of 883 patients with a mean age of 44.6 years (±13.8). The combined prevalence of EV/CN in stroke-related patent foramen ovale (PFO) patients was 50% (95% CI: 31-68). With isolated prevalence for EV and CN of 43% (95% CI: 25-63), 18% (95% CI: 12-25), respectively. Patients with history of stroke had higher prevalence of EV/CN compared with controls odds ratio=2.45 (95% CI: 1.2-5, P <0.01). All case-control and cross-sectional studies defined EV/CN by transesophageal echocardiography or intracardiac cardiography. In the 8 case reports, 7 cases were diagnosed by transesophageal echocardiography, while only 1 case was diagnosed postmortem. EV/CN are relatively common findings in stroke patients with PFO. While it appears that presence of EV/CN with a PFO increases the risk of cardioembolic stroke, they remain underrecognized. EV/CN should be considered as high-risk PFO features. There is a scarcity of research emphasizing their role in clinical decision making, especially PFO closure and antithrombotic therapy choice.

Clinical Presentation, Tumour Characteristics, Sociodemographic, And Lifestyle-Related Factors of Oral Cancer In Patients Visiting Abbasi Shaheed Hospital, Karachi Pakistan

Clinical Presentation, Tumour Characteristics, Sociodemographic, And Lifestyle-Related Factors of Oral Cancer In Patients Visiting Abbasi Shaheed Hospital, Karachi Pakistan

Patterns of neonatal admissions and mortality among neonates admitted to special neonatal care units: a two-year cross-sectional study at selected special neonatal care units in Odisha, India

Background: Odisha has built 44 special newborn care units to treat severely sick infants at various levels. This study aimed to determine morbidity and mortality profiles among neonates admitted to the SNCUs and extend efforts to improve outcomes by investigating crucial variables. Methods: We conducted a cross-sectional descriptive study on all neonates admitted to SNCUs of 4 districts (Balangir, Kalahandi, Koraput, and Rayagada) between two calendar years (January 2020 and December 2021). We collected data on epidemiology, clinical presentation, and neonatal and maternal characteristics. We used Microsoft Excel to analyze categorical and continuous variables, with the Chi2 test for proportion comparison. Results: 17615 neonates were admitted in 2020-2021, 58% below one day and 59% male. ST babies were predominant. Outborn unit had 52% admissions, with 67% full-term and 31% pre-term. 74% of outborns used government vehicles for transportation. Most diagnoses were birth asphyxia, HIE, neonatal jaundice, low birth weight, and neonatal sepsis. The study found that 43% of neonates died from hypoxic ischaemic encephalopathy /perinatal asphyxia, 22% from Sepsis, 12% from extremely low birth weight babies, and 9% from prematurity. The Chi2 test showed a statistically significant difference in survival rates between doctors and dai, with a 91% survival rate and a 71% survival rate. Conclusions: Birth asphyxia was found to be the most essential cause of morbidity and mortality. Regular training at district levels is crucial for ensuring proper newborn care, including warmth, feeding, cleanliness, and prevention of asphyxia, to reduce preterm birth and low birth weight.

Myofibroma of the pinna: a case report and review of the literature

BackgroundMyofibromas are rare mesenchymal tumors with a predilection for the head, neck, and oral cavity. Primarily affecting infants and young children, these tumors typically manifest as superficial painless nodules. Diagnosis is confirmed through histopathological examination of a biopsy, revealing nodules characterized by spindle cell proliferation. To our knowledge, only two cases of pinna myofibroma have been previously reported in the literature.Case presentationHere, we present the case of a three-year-old male who developed a myofibroma of the left auricle following trauma to the area one year earlier. The patient underwent surgical resection without any postoperative complications. The patient later returned with a lesion consistent with hypertrophic scar.ConclusionsThis study aims to provide a comprehensive review of the clinical presentation, histopathologic and immunohistochemical features, and surgical management of this unique case of myofibroma of the pinna.

Presenting clinical and imaging features of patients with clinically amyopathic interstitial lung disease associated with myositis-specific autoantibodies.

Lung involvement in the context of idiopathic inflammatory myopathies has significant impact on outcome; early and accurate diagnosis is important but can be difficult to achieve. In particular, patients without clinically evident muscle involvement pose a significant diagnostic challenge. A computer-assisted search was conducted to identify patients with amyopathic interstitial lung disease associated with the presence of myositis-specific autoantibodies. Medical records and chest imaging studies were reviewed to identify clinical and radiologic features at presentation. Of the 35 patients with amyopathic interstitial lung disease associated with myositis-specific autoantibodies, the median age was 65 years (range 43-78) and 20 were women (57%). Of the patients, 34% had previously visited the rheumatology department. Presenting symptoms consisted of dyspnea (94%), cough (43%), and arthritis (23%). Raynaud phenomenon, "mechanic hands," Gottron papules, and inspiratory crackles were present in 23, 31, 9, and 74% of patients, respectively. After a detailed history, none of the patients reported muscle weakness, while four (11%) exhibited increased CK levels; of these four, two had a concomitant increase in aldolase levels. Median FVC was 79% predicted (range: 49-135) and median DLco was 50% predicted (range: 17-103). HRCT pattern was suggestive of an alternative to UIP pattern in 31/33 (94%) patients; the most common imaging patterns were NSIP (49%) and NSIP/OP (39%). In patients with NSIP and NSIP/OP pattern, the presence of amyopathic interstitial lung disease associated with myositis-specific autoantibodies should be considered even in the absence of clinical evident myositis.

Predictive model for iris melanoma

AimTo develop a predictive model for the diagnosis of iris melanoma.MethodsRetrospective consecutive case series that included 100 cases of pathologically confirmed iris melanoma and 112 cases of Iris naevus, either...

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients

BackgroundPrimary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. However, PPP is charactered by remarkable clinical and genetic heterogeneity, and the diagnosis of suspected patients is based on the characteristic clinical presentation then confirmed by genetic testing. At present, there are only limited cohort studies on PPP in the Chinese population.ResultsWe included 37 patients with a clinical diagnosis of PPP. Eleven (29.7%) patients were tested using a specific gene panel and 26 (70.3%) by the whole-exome sequencing (WES). Twenty-two cases had a genetic variant identified, representing a diagnostic rate of 59.5% (22/37). All the identified mutations were either in the SCN4A or the CACNA1S gene. The overall detection rate was comparable between the panel (54.5%: 6/11) and WES (61.5%: 16/26). The remaining patients unresolved through panel sequencing were further analyzed by WES, without the detection of any mutation. The novel atypical splicing variant c.2020-5G > A affects the normal splicing of the SCN4A mRNA, which was confirmed by minigene splicing assay. Among 21 patients with HypoPP, 15 patients were classified as HypoPP-2 with SCN4A variants, and 6 HypoPP-1 patients had CACNA1S variants.ConclusionsOur results suggest that SCN4A alleles are the main cause in our cohort, with the remainder caused by CACNA1S alleles, which are the predominant cause in Europe and the United States. Additionally, this study identified 3 novel SCN4A and 2 novel CACNA1S variants, broadening the mutation spectrum of genes associated with PPP.

A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature.

Aim of the report: Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progressively increase in number and size over the years. Diagnosis necessitates consideration of family history, clinical examination, histological findings, and genetic analysis. The aim of this paper is to explore the clinical overlap between Brooke-Spiegler syndrome (BSS) and neurofibromatosis type 1 (NF1). We aim to highlight the challenges associated with their differential diagnosis and emphasize the lack of standardized diagnostic criteria and treatment approaches. Case presentation: Hereby, we introduce the case of a 28-year-old male referred for suspicion of neurofibromatosis type 1 (NF1) who initially declined the recommended surgical excision for a scalp mass. After four years, he returned with larger masses of the scalp, and underwent excision of multiple masses, revealing cylindromas, spiradenomas, and spiradenocylindromas. Family history reported similar tumors in his father, who was also diagnosed with NF1 for the presence of multiple subcutaneous lesions on the scalp. Clinical overlap led to a genetic consultation, but testing for CYLD mutations yielded no significant variations. Despite this, the strong family history and consistent findings led to a revised diagnosis of Brooke-Spiegler syndrome, correcting the initial misdiagnosis of NF1 syndrome. Conclusions: Thanks to the evolving landscape of BSS research over the past two decades, its molecular underpinnings, clinical presentation, and histopathological features are now clearer. However, a thorough family history assessment is mandatory when BSS is suspected. It is our belief that a multidisciplinary approach and cooperation between specialists are essential when dealing with BSS. By sharing this case, we hope to underscore the importance of considering BSS as a differential diagnosis, especially in cases with atypical presentations or overlapping features with other syndromes like NF1.

A Clinico-pathological Study and Management of Fungal Rhinosinusitis

Background: Fungi are ubiquitous in the environment; hence we are constantly exposed to them. Objectives were to know the clinical presentation, radiological and pathological characteristics and management aspects of fungal rhinosinusitis.Methods: 30 cases of fungal rhinosinusitis reported during study period were evaluated and data was collected through history taking, clinical examination, haematological, histopathological and radiological investigations. Management by surgical &amp; medical modalities were evaluated.Results: Fungal rhinosinusitis is more common in 3rd decade of life with male preponderance and more in low socio-economic status (73.3%). Nasal discharge (100%), nasal obstruction (96.7%), chronic headache (90%) and visual disturbances (23.3%) were important clinical features. Sinu-nasal polyp (66.7%) and allergic mucin (40%) were important associated factors. Orbital extension was seen in 33.3%, intracranial extension (20%) and extension to hard palate (6.7%). Computed Tomography scan had a sensitivity of 56.7% while histopathology and potassium hydroxide mount had a sensitivity of 93.33% in detecting cases. Observed mortality rate was 16.6%.Conclusion: Fungal rhinosinusitis is an important clinical entity which must be considered in all patientspresenting with unresolving rhinosinusitis

Acute Cerebellitis or Post-Infectious Cerebellar Ataxia? Approach to Paradigmatic Pediatric Clinical Cases

Acute cerebellitis is a rare disease resulting from dysfunction of the cerebellum or its connections, with infectious or inflammatory causes, varied clinical manifestations, and evidence of predominantly cerebellar inflammation on magnetic resonance imaging (MRI). It belongs to the spectrum of acute post-infectious cerebellar ataxia, a self-limited disease whose therapeutic approach is individualized. Three clinical cases of cerebellar ataxia in pediatric age are described. In case 1, there is a post-infectious context associated with Epstein-Barr virus. In case 2, there is a possible Mycoplasma pneumoniae post-infectious context, with MRI revealing cerebellar inflammation. Steroids were used in both cases. Case 3 presents severe cerebellar post-infection symptoms associated with varicella zoster virus, and human immunoglobulin was given. Evolution was favorable in all. These cases demonstrate the variable spectrum of post-infectious cerebellar ataxia and the different therapeutic options used, depending on the clinical presentation and individual characteristics of affected children.

Epidemiology and Clinical Characteristics of Cerebral Alveolar Echinococcosis in the Tibetan Region of Sichuan, China.

This study aimed to examine the epidemiology and clinical characteristics of cerebral alveolar echinococcosis in the Tibetan region of Sichuan, China. A retrospective analysis of hospitalized cases of cerebral alveolar echinococcosis from six medical units in the Garze Tibetan Autonomous Prefecture, Sichuan Province, from January 2016 to June 2021 was conducted. The study focused on the characteristics, clinical presentation, and imaging features of the disease. Of 119 cerebral alveolar echinococcosis patients, 76 were male and 43 were female. Occupationally, 62 were farmers, 46 were herdsmen, nine were monks, and two were students. The mean age was 43.9 (± 13.9) years. The primary clinical manifestations were dizziness, headaches, and epilepsy. The incidence of cerebral alveolar echinococcosis was most concentrated within 4 years after the diagnosis of hepatic alveolar echinococcosis (77/119, 64.7%). There were 86 cases (72.3%) with multiple intracranial echinococcosis lesions, with an average size of 2.0 cm × 2.5 cm. The imaging features showed that the lesion was mainly concentrated in the anterior circulation blood supply area, and the lesion had multiple aggregated small vesicular structures as its unique imaging feature. Among 98 follow-up cases, 62 could live independently (63.3%); 18 deaths were recorded (18.4%), with an approximate 5-year survival rate of 81.6%. Regular examination of patients with first diagnosis of hepatic alveolar echinococcosis without a combination of echinococcosis in other parts of the body can help monitor and prevent the occurrence of cerebral alveolar echinococcosis, improve the understanding of cerebral alveolar echinococcosis in Tibetan areas of Sichuan.