Septicaemia due to Vibrio vulnificus: A tropical infection not to be taken lightly.

Vibrio vulnificus is a halophilic gram-negative bacillus that can cause fulminant septicaemia in immunocompromised patients. A 67-year-old man who was immunosuppressed as a result of cytotoxic chemotherapy presented with a brief history of fever, lethargy, myalgia, and reduced oral intake. He had recently travelled to the beach to consume seafood. His blood pressure was 81/47 mm Hg, necessitating fluid resuscitation followed by inotropic support and admission to the intensive care unit. His blood culture was positive for curved gram-negative bacilli. The isolate was oxidase-positive and produced an acid butt with an alkaline slant in triple sugar iron agar. Matrix-assisted laser desorption ionization-time of flight mass spectrometry conclusively identified the isolate as V. vulnificus. Intravenous ceftazidime plus ciprofloxacin were administered, and by the fifth day of admission, he was successfully transferred out to the general ward. In total, the patient completed a 14-day course of antibiotic therapy.

Campylobacter jejuni bacteremia in a leukemic child: a nearly missed diagnosis.

Globally, Campylobacter spp. are responsible for most cases of bacterial gastrointestinal infections in humans and although rare, extraintestinal Campylobacter infections have been described. A 2-yearold neutropenic girl with underlying precursor B-cell acute lymphoblastic leukemia presented with a 3-day history of diarrhea. Her stool culture yielded no enteric bacterial pathogens. However, when her blood culture was flagged as positive for bacterial growth, no colonies could be observed on routine bacteriological isolation media. Nonetheless, gram-negative bacilli with seagull and spiral morphologies were seen when the surface of the isolation media used to subculture her blood was Gram-stained. Bacterial colonies were only visible when a subculture was attempted on a Campylobacter blood-free selective agar medium. The organism was identified as Campylobacter jejuni by matrix-assisted laser desorption ionization-time of flight mass spectrometry. Since the organism was erythromycin-resistant and the patient's age precluded the use of tetracycline and ciprofloxacin, an antibiotic regimen consisting of piperacillin-tazobactam and gentamicin was commenced. Her C. jejuni bacteremia resolved following eight days of antibiotic therapy.

Marrow talaromycosis as the initial presentation in a case of Burkitt lymphoma.

Talaromyces marneffei is a thermally dimorphic fungus which causes opportunistic infections in immunocompromised individuals. The diagnosis of T. marneffei infection rests on the microscopic demonstration of the fungus in the tissues and/or isolation of the fungus from clinical specimens. In this report, we discuss a case involving a 23-year-old man who presented with a history of intermittent fever, cough and constitutional symptoms. Clinically, the patient exhibited pallor, jaundice, generalized seborrhoeic dermatitis, hepatomegaly, and small palpable cervical lymph nodes. A computed tomography (CT) scan of the abdomen showed homogenous hypodense lesions in both liver lobes. HIV screening result was reactive. Microscopic examination of the bone marrow aspirate smear and trephine biopsy identified fungal bodies, and culture of the marrow aspirate confirmed the presence of T. marneffei. Notably, the liver biopsy revealed Burkitt lymphoma alongside fungal bodies. He was treated with intravenous Amphotericin B but ultimately succumbed to the illness due to severe metabolic acidosis and multiorgan failure. This case underscores the importance of presumptive diagnosis through morphological or histological examination of bone marrow samples, as microbiologic culture methods can be time-consuming. Timely diagnosis and aggressive treatment are critical in managing patients with T. marneffei infection.

[Clinical and prognostic analysis of opsoclonus-myoclonus-ataxia syndrome in children].

Objective: To summarize the clinical and prognostic features of children with opsoclonus-myoclonus-ataxia syndrome (OMAS). Methods: A total of 46 patients who met the diagnostic criteria of OMAS in the Department of Neurology, Beijing Children's Hospital from June 2015 to June 2023 were retrospectively analyzed. Centralized online consultations or telephone visits were conducted between June and August 2023. The data of the children during hospitalization and follow-up were collected, including clinical manifestations, assistant examination, treatment and prognosis. According to the presence or absence of tumor, the patients were divided into two groups. The chi-square test or Mann-Whitney U test was used to compare the differences between the two groups. Univariate Logistic regression was used to analyze the factors related to OMAS recurrence and prognosis. Results: There were 46 patients, with 25 males and the onset age of 1.5 (1.2, 2.4) years. Twenty-six (57%) patients were diagnosed with neuroblastoma during the course of the disease, and no patients were categorized into the high-risk group. A total of 36 patients (78%) were followed up for≥6 months, and all of them were treated with first-line therapy with glucocorticoids, gammaglobulin and (or) adrenocorticotrophic hormone. Among the 36 patients, 9 patients (25%) were treated with second-line therapy for ≥3 months, including rituximab or cyclophosphamide, and 17 patients (47%) received chemotherapy related to neuroblastoma. At the follow-up time of 4.2 (2.2, 5.5) years, 10 patients (28%) had relapsed of OMAS. The Mitchell and Pike OMS rating scale score at the final follow-up was 0.5 (0, 2.0). Seven patients (19%) were mildly cognitively behind their peers and 6 patients (17%) were severely behind. Only 1 patient had tumor recurrence during follow-up. The history of vaccination or infection before onset was more common in the non-tumor group than in the tumor group (55%(11/20) vs. 23%(6/26), χ²=4.95, P=0.026). Myoclonus occurred more frequently in the non-tumor group (40%(8/20) vs. 4%(1/26), χ²=7.23, P=0.007) as the onset symptom. Univariate Logistic regression analysis showed that the tumor group had less recurrence (OR=0.19 (0.04-0.93), P=0.041). The use of second-line therapy or chemotherapy within 6 months of the disease course had a better prognosis (OR=11.64 (1.27-106.72), P=0.030). Conclusions: OMAS in children mostly starts in early childhood, and about half are combined with neuroblastoma. Neuroblastoma in combination with OMAS usually has a low risk classification and good prognosis. When comparing patients with OMAS with and without tumors, the latter have a more common infection or vaccination triggers, and myoclonus, as the onset symptom, is more common. Early addition of second-line therapy is associated with better prognosis in OMAS.

Septicaemia due to Vibrio vulnificus: A tropical infection not to be taken lightly

@#Vibrio vulnificus is a halophilic gram-negative bacillus that can cause fulminant septicaemia in immunocompromised patients. A 67-year-old man who was immunosuppressed as a result of cytotoxic chemotherapy presented with a brief history of fever, lethargy, myalgia, and reduced oral intake. He had recently travelled to the beach to consume seafood. His blood pressure was 81/47 mm Hg, necessitating fluid resuscitation followed by inotropic support and admission to the intensive care unit. His blood culture was positive for curved gram-negative bacilli. The isolate was oxidase-positive and produced an acid butt with an alkaline slant in triple sugar iron agar. Matrix-assisted laser desorption ionization-time of flight mass spectrometry conclusively identified the isolate as V. vulnificus. Intravenous ceftazidime plus ciprofloxacin were administered, and by the fifth day of admission, he was successfully transferred out to the general ward. In total, the patient completed a 14-day course of antibiotic therapy.

Antifungal susceptibility profile and biofilm-producing capability of Candida tropicalis isolates in a tertiary medical centre.

BACKGROUND: Candida tropicalis is a globally distributed yeast that has been popping up in the medical literature lately, albeit for unenviable reasons. C. tropicalis is associated with substantial morbidity, mortality as well as drug resistance. The aims of this study were to ascertain the antifungal susceptibility profile and the biofilm-producing capability of this notorious yeast in our centre. METHODS: C. tropicalis isolates from sterile specimens were collected over a 12-month period. Conclusive identification was achieved biochemically with the ID 32 C kit. Susceptibility to nine antifungal agents was carried out using the colourimetric broth microdilution kit Sensititre YeastOne YO10. Biofilm-producing capability was evaluated by quantifying biomass formation spectrophotometrically following staining with crystal violet. RESULTS: Twenty-four non-repetitive isolates of C. tropicalis were collected. The resistance rates to the triazole agents were 29.2% for fluconazole, 16.7% for itraconazole, 20.8% for voriconazole and 8.3% for posaconazole-the pan-azole resistance rate was identical to that of posaconazole. No resistance was recorded for amphotericin B, flucysosine or any of the echinocandins tested. A total of 16/24 (66.7%) isolates were categorized as high biomass producers and 8/24 (33.3%) were moderate biomass producers. None of our isolates were low biomass producers. CONCLUSION: The C. tropicalis isolates from our centre were resistant only to triazole agents, with the highest resistance rate being recorded for fluconazole and the lowest for posaconazole. While this is not by itself alarming, the fact that our isolates were prolific biofilm producers means that even azole-susceptible isolates can be paradoxically refractory to antifungal therapy.

Non-bacteremia liver abscess caused by Burkholderia pseudomallei from a tertiary teaching hospital in Malaysia: a case report and literature review.

Melioidosis is endemic in Southeast Asia, including Malaysia. Liver abscess is not uncommon in melioidosis, but it is usually associated with bacteremia. We presented a case of a 55-year-old gentleman with underlying end-stage renal failure who presented with non-specific abdominal pain for three months. Initial blood investigations showed leukocytosis and increased C-reactive protein. Computed tomography (CT) of the abdomen revealed multiple hypodense lesions in the liver and spleen. The culture of the liver specimen obtained through the ultrasound-guided isolated Burkholderia pseudomallei. He was given an adjusted dose of intravenous ceftazidime due to underlying renal failure. Melioidosis serology also returned positive for IgM with titer >1:1280. His blood cultures were reported negative three times. Despite on antibiotics for five weeks, there was no significant improvement of the liver abscesses was observed. He was unfortunately infected with the SARS-CoV-2 virus during his admission and passed away due to severe COVID-19 pneumonia.

The recognition of anti-nuclear antibody's dense fine speckled pattern and the detection of anti-DFS70 antibodies in the laboratory practice: Its prevalence and clinical significance.

Anti-nuclear antibody test (ANA) is the test commonly requested for the working diagnosis of systemic autoimmune rheumatic diseases (SARDs) particularly in ANA-associated rheumatic diseases (AARDs) such as SLE, systemic sclerosis, Sjogren syndrome, mixed connective tissue diseases, and dermatomyositis. Dense fine speckled (DFS) pattern is an ANA fluorescence pattern that is commonly encountered in laboratories. This pattern is largely detected among the healthy population and in non-SARDs patients. Although this pattern is still can be observed among SARDs patients, the low prevalence of monospecific or isolated anti-DFS70 antibodies makes it useful for ruling out AARDs diagnosis. Thus, the inclusion of anti-DFS70 antibodies is perhaps logical for the exclusion of SARDs/AARDs. This review provides evidence of the prevalence of anti-DFS70 antibodies in different populations including healthy individuals, patients with SARDs and non- SARDs. The algorithm that includes the detection of anti-DFS70 antibodies during ANA screening is also suggested.

Bullous cellulitis as an extraordinary manifestation of a Vibrio cholerae O1 Ogawa infection.

Vibrio cholerae is a gram-negative bacterium synonymous with its namesake disease, cholera. Thus, gastrointestinal symptoms are the norm and V. cholerae is very rarely associated with skin and soft tissue infections. We describe a case of a 63-year-old Chinese woman with multiple medical comorbidities on corticosteroid therapy who developed fever and a painful swelling on her left leg after being pricked by a branch while gardening. There was no abdominal pain, vomiting or diarrhea. A diagnosis of bullous cellulitis was made clinically, and blood was sent for bacteriological culture. A beta-hemolytic commashaped gram-negative bacillus was isolated from the blood. It was also oxidase-positive and produced an acid/alkaline (A/K) reaction on triple sugar iron agar. It was identified biochemically as Vibrio cholerae. After additional testing, it was found to be of the O1 serogroup and Ogawa serotype. The infection resolved following a 10-day course of high-dose co-trimoxazole therapy.

Salmonella enteritidis abdominal aorta mycotic aneurysm presented with acute cholestatic jaundice: A case report and literature review.

Mycotic aneurysm is one of the extra-intestinal manifestations of Salmonella Enteritidis infection. The diagnosis of this condition is challenging owed to its variation in clinical presentations. We presented a case of a 54-year-old man with underlying diabetes mellitus and chronic smokers presented with acute right flank pain and fever associated with mild jaundice. The initial laboratory investigations suggested features of obstructive jaundice and urinary tract infection. The contrast enhancing computed tomography of the abdomen revealed the presence of saccular mycotic aneurysm located at the infrarenal abdominal aorta. The blood culture grew Salmonella Enteritidis which was susceptible to ceftriaxone, trimethoprim-sulfamethoxazole, ciprofloxacin, ampicillin, and amoxicillin-clavulanic acid. Intravenous ceftriaxone was initiated, and he underwent open surgery and artery repair at day 8 of admission. He responded well to the treatment given and subsequently discharged home after completed three weeks of intravenous ceftriaxone.

Salmonella enteritidis abdominal aorta mycotic aneurysm presented with acute cholestatic jaundice: A case report and literature review

@#Mycotic aneurysm is one of the extra-intestinal manifestations of Salmonella Enteritidis infection. The diagnosis of this condition is challenging owed to its variation in clinical presentations. We presented a case of a 54-year-old man with underlying diabetes mellitus and chronic smokers presented with acute right flank pain and fever associated with mild jaundice. The initial laboratory investigations suggested features of obstructive jaundice and urinary tract infection. The contrast enhancing computed tomography of the abdomen revealed the presence of saccular mycotic aneurysm located at the infrarenal abdominal aorta. The blood culture grew Salmonella Enteritidis which was susceptible to ceftriaxone, trimethoprim-sulfamethoxazole, ciprofloxacin, ampicillin, and amoxicillin-clavulanic acid. Intravenous ceftriaxone was initiated, and he underwent open surgery and artery repair at day 8 of admission. He responded well to the treatment given and subsequently discharged home after completed three weeks of intravenous ceftriaxone.

Bullous cellulitis as an extraordinary manifestation of a Vibrio cholerae O1 Ogawa infection

@#Vibrio cholerae is a gram-negative bacterium synonymous with its namesake disease, cholera. Thus, gastrointestinal symptoms are the norm and V. cholerae is very rarely associated with skin and soft tissue infections. We describe a case of a 63-year-old Chinese woman with multiple medical comorbidities on corticosteroid therapy who developed fever and a painful swelling on her left leg after being pricked by a branch while gardening. There was no abdominal pain, vomiting or diarrhea. A diagnosis of bullous cellulitis was made clinically, and blood was sent for bacteriological culture. A beta-hemolytic commashaped gram-negative bacillus was isolated from the blood. It was also oxidase-positive and produced an acid/alkaline (A/K) reaction on triple sugar iron agar. It was identified biochemically as Vibrio cholerae. After additional testing, it was found to be of the O1 serogroup and Ogawa serotype. The infection resolved following a 10-day course of high-dose co-trimoxazole therapy.

Non-bacteremia liver abscess caused by Burkholderia pseudomallei from a tertiary teaching hospital in Malaysia: a case report and literature review

@#Melioidosis is endemic in Southeast Asia, including Malaysia. Liver abscess is not uncommon in melioidosis, but it is usually associated with bacteremia. We presented a case of a 55-year-old gentleman with underlying end-stage renal failure who presented with non-specific abdominal pain for three months. Initial blood investigations showed leukocytosis and increased C-reactive protein. Computed tomography (CT) of the abdomen revealed multiple hypodense lesions in the liver and spleen. The culture of the liver specimen obtained through the ultrasound-guided isolated Burkholderia pseudomallei. He was given an adjusted dose of intravenous ceftazidime due to underlying renal failure. Melioidosis serology also returned positive for IgM with titer >1:1280. His blood cultures were reported negative three times. Despite on antibiotics for five weeks, there was no significant improvement of the liver abscesses was observed. He was unfortunately infected with the SARS-CoV-2 virus during his admission and passed away due to severe COVID-19 pneumonia.

[Analysis of clinical and imaging features of 6 cases of linear scleroderma en coup de sabre with central nervous system involvement in children].

Objective: To summarize the clinical and imaging features of linear scleroderma en coup de saber (LSCS) with central nervous system involvement in children. Methods: The clinical data(clinical manifestations and imaging features) of 6 children diagnosed with LSCS with central nervous system involvement who were admitted to Beijing Children's Hospital Affiliated to Capital Medical University from May 2019 to November 2021 were retrospectively analyzed. Results: The 6 patients were all female, aged 6.8 (3.3, 11.0) years at the time of diagnosis, and aged 3.0 (1.7, 4.1) years at the time of discovery of facial skin lesions. Facial skin lesions appeared before neurological symptoms in 5 cases, and neurological symptoms appeared 2 months before skin lesions in 1 case. All the patients had "sword wound" skin lesions on the forehead with alopecia. Neurological manifestations included epileptic seizures in 6 cases, focal neurological defects in 5 cases, and headaches in 2 cases. The intracranial lesions were all ipsilateral to the skin lesions. The magnetic resonance imaging (MRI) of 6 cases showed abnormal signals mainly involving white matter in 1 hemisphere, and 3 cases showed local encephalomalacia. The scattered low signal was observed in 5 cases on susceptibility weighted imaging. Localized brain parenchyma or leptomeninges enhancement was seen on Gadolinium-enhanced sequences in 5 cases. Scattered foci of calcification on the affected side were seen on cranial CT in 4 cases. Skin biopsy was performed in 2 cases. Part of the lesion of the brain was removed in 1 case, and the pathological findings suggested small vasculitis, which was consistent with skin pathological changes. All patients received symptomatic treatment with antiepileptic drugs. Oral prednisone combined with methotrexate was given in 4 cases, and 1 case was given oral prednisone only. One case was presumed to be in the resting stage of the disease due to significant cerebral atrophy in half of the brain, and only antiepileptic drugs were added. The patients were followed up for 6-36 months. The skin lesions of scleroderma and alopecia did not progress in 5 cases, and hemifacial atrophy was developed in 1 case, which was considered to be combined with Parry-Romberg syndrome. The seizures were controlled in 4 cases. One case had reduced seizure frequency but left hemiplegia. One patient still had intractable epilepsy and paroxysmal headache. Conclusions: LSCS with central nervous system involvement is more common in girls, with seizures and neurological defects as the main manifestations. Intracranial lesions are mostly ipsilateral to the skin lesions. Cerebral microbleeds, calcification, and encephalomalacia foci are common, and the pathological changes in skin and intracranial lesions are consistent with small-vessel vasculitis. Prednisone combined with methotrexate treatment has shown some efficacy, but some children remain with refractory epilepsy and neurological deficit symptoms.

An unsuspected and unusual case of zoonotic sporotrichosis.

Sporotrichosis is an infection caused by a thermally dimorphic fungus, Sporothrix schenckii which is commonly reported in the tropics and subtropics. Infection usually occurs as a consequence of traumatic inoculation into the skin. A previously healthy 33-year-old Malay woman presented with a scratch wound over the lateral aspect of her left thigh for 2 months after being scratched by her pet cat. Inspection of the wound revealed a granulomatous plaque measuring 3cm x 2cm with hyperkeratotic scales, fissures and multiple blackish pigments. There was a tender, palpable left inguinal lymph node measuring 1cm x 1cm but the overlying skin looked normal. She was prescribed two courses of antibiotics empirically, without any clinical improvement seen. During follow up and further history taking, the patient informed that her pet cat was diagnosed with sporotrichosis a month before the scratching incident took place, but she claimed that her pet cat had been treated and was cured. She was then empirically started with oral itraconazole 200mg twice a day for two months. Histopathological examination of a skin biopsy showed acute on chronic suppurative granulomatous inflammation but was negative for any fungal elements. However, culture of the skin biopsy isolated Sporothrix schenckii. A final diagnosis of localised cutaneous sporotrichosis was made and the oral itraconazole was continued for another two months. The wound improved dramatically since itraconazole started.

[Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].

Objective: To analyse the clinical and gene characteristics of GRIN2B gene related neurological developmental disorders in children. Methods: The data of 11 children with GRIN2B gene related neurological developmental disorders from November 2016 to February 2021 were collected from Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health and analyzed retrospectively. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results: Among 11 children 6 were boys and 5 were girls. Two of them were diagnosed with developmental and epileptic encephalopathy. The ages of seizures onset were 3 months and 9 months, respectively. Seizure types included epileptic spasm, tonic seizures, tonic spasm and focal seizures, and 1 patient also had startle attacks. EEG showed interictal multifocal epileptiform discharges. Both of them were added with more than 2 anti-seizure drugs, which were partially effective but could not control. They had moderate to severe mental and motor retardation. The phenotype of 9 cases was developmental delay or intellectual disability without epilepsy, age of visit 1 year to 6 year and 4 months of whom 5 cases had severe developmental delay, 2 cases had moderate and 2 cases had mild delay. Multi-focal epileptiform discharges were observed in 3 cases, no abnormality was found in 3 cases, and the remaining 3 cases did not undergo EEG examination. Ten cases underwent brain magnetic resonance imaging (MRI), 6 cases had nonspecific abnormalities and 4 cases were normal. Nine GRIN2B gene heterozygous variants were detected by next-generation sequencing in these 11 patients, 8 cases had missense variants and 1 case had nonsense variant, all of which were de novo and 3 of which were novel. Missense variants were found in 10 patients, among them 6 cases had severe developmental delay, 3 cases had moderate and 1 case had mild developmental delay, but the patient with nonsense variant showed mild developmental delay without epilepsy. Conclusions: The phenotypes of GRIN2B gene related neurological developmental disorders in children are diverse, ranging from mild intellectual impairment without epilepsy to severe epileptic encephalopathy. Patients with epileptic phenotype usually have an onset age of infancy, and spasm and focal seizures are the most common seizure types. And the epiletice episodes are refractory. Most of the patients with missense variants had severe developmental delay.

[Clinical characteristics and gene analysis of SYNGAP1-related epilepsy in children].

Objective: To summarize the clinical characteristics of SYNGAP1-related epilepsy in children. Methods: Data of 13 patients with SYNGAP1 gene variants diagnosed with epilepsy at Department of Neurology, Beijing Children's Hospital were collected retrospectively from March 2017 to October 2020 and the patients were followed up. The clinical features, electroencephalogram(EEG), brain imaging, gene results and treatment were summarized. Results: Twelve patients were followed up successfully among the 13 patients with SYNGAP1 variants. The last follow-up age was 5 years and 7 months (3 years and 1 month to 9 years).The onset age of seizures was 2 years (4 months to 3 years). Seizure types included eyelid myoclonia with or without absence (9 cases), myoclonic seizure (5 cases), atypical absence (4 cases), suspicious atonic seizures(4 cases),unclassified fall attack (6 cases), and the frequency of seizures varied from several times to more than 100 times per day. Four cases had the mimic phenotype of myoclonic astatic epilepsy. The seizures of 10 cases could be triggered by eating (5 cases), emotion (5 cases), fever (3 cases), voice (2 cases), fatigue (2 cases), etc. Electroencephalography (10 cases) showed interictal generalized or focal epileptiform discharges (9 cases), and atypical aphasia (4 cases), myoclonic seizure (2 cases) and eyelid myoclonic seizure (1 case) were monitored. Of the 12 cases, 9 were added with valproate, all of which were effective (the frequency of seizures reduced>50%). Five cases received combined levetiracetam, in 3 the treatments were effective. To last follow-up, 3 cases were seizure free from 6 months to 1 year and 1 month, but the remaining 7 cases still had seizures, one or several times per day. All 13 cases had developmental retardation (speech ability impaired mostly), 2 cases were severe, 10 cases were moderate, 1 case was mild. The SYNGAP1 gene variants of 13 patients were all de novo, including 12 variants. Among them, 4 were frameshift variants, 4 were nonsense variants, 2 were missense variants and 2 were splice site variants. Conclusions: Patients with SYNGAP1-related epilepsy have an early onset age and many seizure types. The main seizure type is eyelid myoclonia with or without absence, and other seizure types include myoclonic seizure, atypical absence, unclassified fall attack, etc. Valproate is effective in most patients, but seizures in some patients might be intractable. Most patients have developmental delay (mainly moderate and severe), speech ability impaired mostly.