Project description:A 6-year-old boy was referred to our hospital with orbital cellulitis. He had a history of 7 days of fever despite antibiotherapy. At first, he only had pharyngitis and conjunctivitis, but then an orbital mass evolved which restricted the movement of his right eye and there was also periorbital inflammation resembling orbital cellulitis. Examination at presentation revealed conjunctivitis with secretion, periocular inflammation and edema, right-preauricular lymphadenopathy and restriction of upgaze in the right eye. Laboratory findings included a white blood cell count of 19,000 cells per mm3, with 81.5% neutrophils, 15.0% lymphocytes, 1.2% monocytes and 0.4% basophils. The erythrocyte sedimentation rate was 52 mm/h and the C-reactive protein level was 46.3 mg/dl. Magnetic resonance imaging confirmed orbital cellulitis and pansinusitis. Vancomycin (60 mg/kg/day) and meropenem (100 mg/kg/day) were administered, but desquamation on his fingertips and a rash appeared on the tenth day. A pediatric consultation resulted in a diagnosis of incomplete Kawasaki disease (KD). After administration of aspirin, the orbital inflammation regressed in 3 days. No coronary artery lesions were detected on the first echocardiography, but these did appear 6 weeks later. This confirmed the KD diagnosis.
Project description:Kawasaki disease (KD) is an acute febrile illness of childhood associated with vasculitis of medium-sized arteries especially the coronary arteries. Typical clinical features involving the skin, mucous surfaces, etc., occur sequentially over a few days. We report a rare presentation of KD as a surgical abdomen in a 2-year-old boy. Awareness of this presentation is important as it can otherwise lead to a delay in starting potentially life-saving intervention like intravenous immunoglobulins for cardiac complications kept cryptic by the manifest acute abdomen.
Project description:We report a very rare case of HEREDITARY ANGIOEDEMA, presenting as recurrent acute abdomen. A 22 yr old Maharastrian male, law college student, got admitted for about fifteen times in previous three years for severe, acute onset, upper abdominal pain, vomiting, distention and acute exudative inflammatory ascites .The whole episode used to subside spontaneously within 2-3 days with or without conservative general management .He underwent various investigations from far basic type, to advanced and invasive type with each recurrence but without definitive diagnosis. He also underwent unnecessary appendectomy. The authors did a review of his previous records, but didn't find any definite surgical or medical cause for his acute abdomen. Obviously it was something rare. Authors did search for it in various surgical and medical literature and searched extensively on internet for rare causes of abdominal pain which guided them for further appropriate investigations and diagnose him as a case of HEREDITARY ANGIOEDEMA ,as his clinical features and C1-INH,C3-C4 levels were strongly in favour of it . It goes without saying that the internet has become a standard accessory to conventional literature for cases with diagnostic dilemmas and for treatment options as well.
Project description:BackgroundThe aim of our study was to evaluate the long-term impacts of Kawasaki disease on our patients regarding coronary involvement demographic characteristics, treatment regimens, and clinical course.MethodsOur study included 104 patients diagnosed and hospitalized with Kawasaki disease in our center, from January 2004 to January 2019. In our study, patients were divided into three groups according to coronary artery involvement. Patients in group 1 had no echocardiographic findings, while the ones in group 2 had coronary artery dilatation and ones in group 3 had coronary artery aneurysm (CAA).ResultsAmong 104 patients, the median age was 9.15 (3.0-22.0) years, and 61 of the patients were male while 43 of the patients were female. With a wide range of 1.50-16.50 years of follow-up time, the median diagnosis age of our patients was 31 months (3.0-164.0). Fever duration (median day 10 (5-21), p = 0.025) was statistically significantly higher in group 3. Blood C-reactive protein (CRP) levels, white blood cell (WBC) counts, and neutrophil counts were significantly higher in group 3. There was a statistically significant difference between patients in group 3 and group 2 in which the lowest strain deformation values were in the patients of group 3. In contrast to group 1, the time for initiation of IVIG therapy is significantly prolonged both in group 2 (median: 9.5 days, p = 0.028) and group 3 (median: 10 days, p = 0.036).DiscussionIn our study, serum CRP levels, WBC count, and neutrophil count were higher in patients with coronary artery abnormalities, in agreement with the previous studies. In the light of our results, we consider that the most important determining factor for the development of coronary artery aneurysm is the time of intravenous immunoglobulin (IVIG) administration.
Project description:More than 230 years after the characteristic clinical features of tuberculosis spondylitis were first described, this serious infection can still present diagnostic dilemmas in clinical practice. Atypical presentations of spinal tuberculosis mimicking malignancy have been described. We report a 50-year-old woman with abdominal pain as a presenting symptom of lumbar spinal tuberculosis. She presented with chronic intermittent abdominal pain of 6 months' duration, without low-grade fever and weight loss. There were no bowel/bladder complaints, vomiting, or worm infestation. Magnetic resonance imaging of the lumbar spine showed the L3, L4, and L5 vertebrae bodies had been destroyed and disease had invaded the lumbar spinal canal. There was a giant abscess in the right musculus psoas major. The C-reactive protein level was 130 g/L, and the erythrocyte sedimentation rate was 165 mm/h. A diagnosis of lumbar spinal tuberculosis with abdominal pain was made. After 3 weeks of antituberculosis treatment, an operation was performed to debride the necrotic tissues and reconstruct the L3 vertebrae through an anterior approach combined with a posterior approach to establish the spine stability. On 6-month follow-up, the patient had recovered from the operation and had no focal neurologic deficit.
Project description:We noted that many patients with Kawasaki disease (KD) were hoarse at presentation and thus evaluated the frequency of hoarseness in children with acute KD. New onset hoarseness was noted in 86 of 287 (30%) prospectively assessed KD patients. Laryngoscopic examination of 3 hoarse patients with acute KD revealed edema and erythema of the larynx.
Project description:BackgroundThe chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms. An expanded phenotype was proposed based on additional findings, including one previous report of a patient presenting with moyamoya disease.Case presentationThe authors report a patient presenting with early neurodevelopmental delay, hydrocephalus, renal malformation, and dysmorphisms. After presenting with a sudden choreic movement disorder, the neuroimaging investigation revealed an ischemic stroke, moyamoya disease, and bilateral incomplete hippocampal inversion. Chromosomal microarray analysis revealed a deletion of 13.2 Mb at 1p31.3p32.2, compatible with the contiguous gene syndrome caused by microdeletions of this region.Discussion/conclusionThis is the second report of a patient who developed Moyamoya disease and the first to describe bilateral incomplete hippocampal inversion in this microdeletion syndrome.
Project description:Kawasaki disease (KD) is considered the main contributor to acquired heart diseases in developed countries. However, the precise pathogenesis of KD remains unclear. Neutrophils played roles in KD. This study aimed to select hub genes in neutrophils in acute KD. mRNA microarray of neutrophils from four acute KD patients and three healthy controls was performed to screen differentially expressed mRNAs (DE-mRNAs). DE-mRNAs were analyzed and predicted by Gene Ontology (GO), Kyoto Encyclopaedia of Genes and Genomes (KEGG) pathways, and protein-protein interaction networks. Real time-PCR was finally conducted to confirm the reliability and validity of the expression level of DE-mRNAs from blood samples of healthy controls and KD patients in both acute and convalescent stage.
Project description:The diagnosis of Kawasaki disease (KD) is often difficult to distinguish from adenovirus (HAdV) and Group A streptococcal disease (GAS). We sought to: 1) to define the KD transcriptional signature that can aid in the diagnosis of complete and incomplete KD in children; 2) to identify specific biomarkers that objectively discriminate between KD and other mimicking conditions, including HAdV and 3) to test the prognostic utility of GEP to determine response to IVIG therapy and development of coronary artery lesions (CAL). Methods: Blood RNA samples were analyzed from 76 pediatric patients with complete KD, 13 with incomplete KD, 19 patients with HAdV, 17 patients with GAS disease, and age- and sex-matched healthy controls (HC). We used class comparisons (MW p< 0.01, Benjamini-Hochberg, and 1.25 fold change filter), class prediction, modular analysis and MDTH analyses to define the specificity of the KD profiles and identify markers of severity. Results: Statistical group comparisons identified 7,899 genes differentially expressed in 39 complete KD patients versus HC (KD biosignature). This signature was validated in another 37 patients with complete KD and in 13 patients with incomplete KD. Modular analysis in children with complete KD demonstrated overexpression of inflammation, neutrophils, myeloid cell, coagulation cascade, and cell cycle genes. The KNN class prediction algorithm identified 25-classifier genes that differentiated children with KD vs HAdV infection in two independent cohorts of patients with 96% (95% CI [80%-99%]) sensitivity and 95% [74%-99%] specificity. MDTH scores in KD patients significantly correlated with the baseline c-reactive protein (R=0.29, p=0.008) and was four fold higher than in children with HAdV (p<0.01). In addition, KD patients that remained febrile 36 hours after treatment with IVIG (non-responders) demonstrated higher baseline, pre-treatment MDTH values compared with responders [12,290 vs. 5,572 respectively; p=0.009]. Conclusion: Transcriptional signatures can be used as a tool to discriminate between KD and HAdV infection, and may also provide prognostic information. 113 samples, no replicates, 9 HAdV, 57 cKD, 12 FUO, 13 GAS, 3 GAS/SF, 5 inKD, 14 healthy control