ABSTRACT
Introduction: TBX1 haploinsufficiency is an inborn error of immunity with the phenotype of DiGeorge Syndrome. DiGeorge Syndrome has variable immunodeficiency associated with grade of thymic hypoplasia ranging from mild with no infections to severe requiring thymus implant. Enterovirus is an example of an opportunistic infection that can be fatal in these patients. Case Presentation: A 1 year old girl with TBX1 haploinsufficiency complicated by Tetralogy of Fallot, pulmonary atresia, high arched palate, and vesicovaginal fistula presented for elective cardiac repair surgery from another country due to failure to thrive and cyanosis. She had no prior infectious history but was on sulfamethoxazole-trimethoprim for prophylaxis. She was asymptomatic with a negative COVID test but no other infectious studies performed. Immediately postoperatively, she was febrile and nasal respiratory viral panel was positive for rhinovirus/enterovirus with increased procalcitonin and leukocytosis with left shift. She decompensated with multi-organ failure and cardiac arrest on postoperative day two. She was cannulated to veno-arterial extracorporeal membrane oxygenation (ECMO). Pre-operatively, she had a normal absolute lymphocyte count. No thymus tissue was observed in surgery. She had profound CD3 lymphopenia to 130 cells/cmm when critically ill. Enteroviral meningitis was suspected as no infectious, cardiac, or other pathology could be identified causing decompensation. Enteroviral serum polymerase chain reaction (PCR) test was negative while lumbar puncture deferred due to clinical status. She was treated with immunoglobulin. Offlabel investigational drug pocapavir was considered but deferred to patient's irreversible neurological status. The patient was disconnected from ECMO and expired. Discussion(s): Though we cannot confirm that this patient had enteroviral meningitis, invasive enteroviral infections are associated with elevated transaminases, coagulopathy, and seizures all present in our patient. There has also been reported negative serum enteroviral PCR but positive CSF enteroviral PCR in an immunodeficient patient. Additionally, this case highlights the importance of immunologic evaluation in patients with DiGeorge Syndrome and questions if asymptomatic viral screening for viruses like enterovirus should be considered pre-operatively in patients with inborn errors of immunity. This case highlights potential treatment options for invasive enteroviral infections in patients with inborn errors of immunity: high dose immunoglobulin, fluoxetine, and pocapavir.Copyright © 2023 Elsevier Inc.
ABSTRACT
Introduction: Studies show that children account for only 1-5% of diagnosed COVID-19 cases, they have milder disease than adults and deaths are extremely rare. The complete clinical picture of pediatric COVID-19 has not yet been fully reported or defined. Additionally, the South African pediatric population has unique clinical characteristics and risk implications and needs investigating. We aimed to characterize COVID-19 in Cape Town children. Methods: The UCT COVID-19 pediatric repository is a prospective cohort recruited via convenience sampling at 3 Western Cape Hospitals. All patients ≤ 18 years who test COVID-19 positive are eligible for inclusion in the study. Results: To date 227 participants, 56%(125/227) male with median age 2 years (IQR:0-6), have been enrolled. Only 28(12%) participants were in contact with a confirmed COVID-19 positive case, 67% of these, were first degree relatives, 28% second degree relatives and 6% health care workers. Comorbidities were present in 125(56%) participants. Of 32 recorded comorbidities, congenital heart disease (CHD), found in 7% of participants, ranked third. CHD subtypes included PDA (4), Tetralogy of Fallot (3), AVSD (2), Pulmonary atresia with VSD (2), truncus arteriosus (1), Coarctation of the Aorta (1), Congenital aortic valve stenosis (1), and ASD (1). Other cardiac comorbidities were, cardiomyopathy (2), primary pulmonary hypertension (1) and rhabdomyoma (1). On presentation 173 (76%) were symptomatic. Predominant symptoms included cough 40%, history of fever 36%, documented fever 34%, difficulty breathing 28%, and nausea or vomiting 20%. On examination, 65% had abnormal heart rates, 47% abnormal respiratory rates, 35% were in respiratory distress and 24% were hypoxic. Of the 227 patients, 169(74%) were admitted to hospital and 33 (15%) were admitted to ICU. In the ICU 79% of patients required non-invasive and 24% invasive ventilation, median length of ICU admission was 3 days (IQR:2-7.5). During admission 38(17%) patients developed COVID-19 complications: secondary infection 10%, sepsis 4%, MIS-C 2%, and myocarditis or new onset heart failure 1%) and 2(0.9%) died, including one patient with AVSD, who presented with severe pulmonary hypertension and acute heart failure post cardiac surgery. Conclusion: We present the initial findings of the UCT pediatric COVID-19 registry. We anticipate that these data will help to complete the clinical picture of COVID-19 in the South African pediatric population.