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Background: Familial Hemophagocytic lymphohistiocytosis (fHLH) categorized as FHL2 (PRF1), FHL3 (UNC13D), FHL4 (STX11), and FHL5 (STXBP2) encoding for Perforin, Munc13-4, Syntaxin11, and Syntaxin binding protein 2, respectively. There is limited information available about the clinical and mutational spectrum of FHL patients in Indian population. Objectives: To delineate clinical and laboratory features of late onset familial Hemophagocytic Lymphohistiocytosis. Methods: A 12-years-old well nourished sick looking boy, born to a non-consanguineous parents with normal birth, development and immunization history with uneventful past presented to us with 6 days history of high fever, cough, breathing difficulty and severe headache. He had occasional vomiting, abdominal pain, polyarthragia & chest pain from last 10 days. Mother also had given history of throat pain, backache & some non-specifc papular rashes over face before the onset of fever. His vitals were normal. Examination revealed faint diffuse fxed erythematous rash all over the body, pallor, icterus and hepatos-plenomegaly. Musculoskeletal examination was unremarkable. Lab evaluation revealed HB 8.9gm%, TLC 4700/cumm with neutrophils 40% and lymphocytes 56% with 8-9% activated lympocytes. Further evaluation showed low ESR 6mm/hr, fbrinogen 97mg% and albumin 2.2 gm% with elevated CRP 40mg/L, ferritin 2000ng/ml, LDH 658IU/L, SGPT 110IU/L, SGOT 221 IU/L, total bilirubin 6mg%, D-dimer 4355 ng:EFU/ml and Triglycerides 441mg%. His blood, urine, CSF and bone marrow cultures were sterile for endemic bacterial and viral infections in our area. His EBV PCR, CoVID RT PCR and CoVID antibody (Total & IgG) test were negative. His immunoglobulin leves were normal. HRCT Chest showed bilateral mild-moderate plural effusions, mild interstitial thickening in both the lower lobes, few fbrotic opacities & old areas of consolidation bilaterally. 2D echo showed mild pericardial effusion. Bone marrow examination showed Hypercellular marrow with iron depletion and occasional hemophagocytosis with CD8 T lymphocytes proliferation (55.2%) and double positive CD4 & CD8 (1.2%). He was initially commenced on supportive therapy, oxygen & intravenous antibiotics. In view of most probable non-infectious, non-malignant hemophagocytic lymphohistiocytosis, he was fnally given intravenous immunoglobulin (2gm/kg) and intravenous pulse methylprednisolone (30mg/kg). He responded well to above regimen within 3 days. He was discharged with tapering steroids over few weeks. Clinical exome by NGS revealed Homozygous Mutation in STXBP2 gene Intron 14, c.1280-1G>C (3' Splice Site) His parents has been counselled for hematopoietic stem cell transplantation and their decision is still pending. Results: We compared our patietnt with a reference to the largest Indian series of pediatric HLH1. Conclusion: Primary HLH type 5 can present frst time during childhood and adolescence. Any child presenting with unexplained HLH features should undergo genetic analysis irrespective of person's past and family history.
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Introduction: Paediatric multisystem inflammatory syndrome (PIMS) is characterized by high fever, acute gastrointestinal manifestations, Kawasaki-like presentation, multisystem involvement with severe systemic inflammation. Objectives: To describe clinical presentation, laboratory findings, management and prognosis in 45 children affected with PIMS. Methods: We gathered a retrospective data of 45 children who were presented to different paediatric hospitals in our region between May 2020 and May 2021. Our data included demographics, presenting symptoms, examination findings, investigations, management and follow up. Results: There were37 males(82%) and 8 females(18%) aged from 1 month to 16 years. Table A shows characteristics of 45 children with PIMS Conclusion: The commonest presenting features were high fever, gastrointestinal symptoms and Kawasaki-like manifestations. Systemic involvement could be depicted as CVS > CNS > RS > Kidney. Arthritis was noted in few patients. Lymphopenia, high CRP with moderately elevated ESR & ferritin were consistent findings. On echocardiography, pericardial effusion and left ventricular dysfunction were found to be more common than coronary aneurysms. Severe lung involvement was the least common. There was only one death reoprted. Any child who presents with high fever, acute GI symptoms, kawasaki-like manifestations, multisystem involvement with systemic inflammation especially 2-4 weeks after a peak of CoVID19 cases in the region, PIMS must be considered in differentials. Early diagnosis, IVIg(2gm/kg) and a short course of high dose steroids(10-30mg/kg/day) are life-saving in severe cases.
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Introduction Recently reports from Europe and North America have described clusters of children and adolescents with a multisystem inflammatory condition with some features similar to those of incomplete Kawasaki disease. 1-3 Objectives To unveil characteristics of systemic inflammatory syndrome (SIS) in children during COVID-19 pandemic in India Methods This is a case series which included three such pediatric patients who were evaluated between April 2020 and May 2020 at five different hospitals from an Indian state of Gujarat. Our electronic data included demographics, clinical presentation, laboratory results and follow up. Conclusion Above three cases reemphasize the need for a high index of suspicion for COVID 19 (coronavirus) as a possible culprit in a child with unexplained multisystem inflammatory syndrome. Trial registration identifying number 1. Riphagen S, Gomez X, Gonzalez-Martinez C, Wilkinson N, Theocharis P. Hyperinflammatory shock in children during COVID-19 pandemic. Lancet. 2020. Epub 2020/05/11. 2. DeBiasi RL, Song X, Delaney M, Bell M, Smith K, Pershad J, et al. Severe COVID-19 in Children and Young Adults in the Washington, DC Metropolitan Region. J Pediatr. 2020 3. Jones VG, Mills M, Suarez D, Hogan CA, Yeh D, Bradley Segal J, et al. COVID-19 and Kawasaki Disease: Novel Virus and Novel Case. Hosp Pediatr. 2020. Epub 2020/04/09.