Paediatrics and International Child Health最新文献

Nitrous oxide, an inhalational anaesthetic, is popular with adolescents worldwide as an accessible recreational drug which induces a euphoric effect. However, chronic abuse leads to serious complications such as myeloneuropathy and bone marrow suppression by inactivation of vitamin B₁₂. A 17-year-old girl presented with nitrous oxide-induced myeloneuropathy. She reported chronic nitrous oxide inhalation for 10 months and was admitted to the emergency department on account of repeated falls for 2 weeks. She also had ascending paraesthesia in both legs and urinary incontinence. Neurological examination demonstrated bilateral lower extremity weakness [motor power: proximal muscles 4/5, plantar flexion and extensor hallucis longus (EHL) 3/5], decreased sensation, proprioception and vibration of the lower extremities. Deep tendon reflexes were absent in the ankles and knees. Laboratory results demonstrated mild anaemia [Hb 11.2 g/dL (12.0-16.0), haematocrit 35.4% (36-50), MCV 89.4 fl (78-102)] with significant hypersegmented neutrophils in a peripheral blood smear. Serum vitamin B₁₂ was 340 pg/mL (197-771), but serum homocysteine was increased at 65.8 µmol/L (5-15). A nerve conduction study was prolonged, and F-waves were absent from the bilateral perineal and tibial nerves, indicating diffuse demyelinating motor polyneuropathy. Magnetic resonance imaging of the whole spine demonstrated faint T2 hypersignal intensity and an inverted V-shape appearance at the posterior column of the upper thoracic cord (around T2-T6), a pathognomonic sign of vitamin B₁₂ deficiency or subacute combined degeneration of the nitrous oxide-induced myeloneuropathy. A 7-day course of 1000 µg cyanocobalamin was given intramuscularly, followed by weekly doses for 4 weeks. Supplements of daily oral vitamin B₁, B₆ and B₁₂ (65 µg vitamin B₁₂) were administered, along with rehabilitation. At the 6-months outpatient follow-up, there were a few residual neurological abnormalities: weakness of the left EHL (grade 4/5) and an absent deep tendon reflex in the left ankle. This case emphasises the significant health consequences of chronic abuse of nitrous oxide, myeloneuropathy and megaloblastic anaemia, by inactivation of vitamin B₁₂. The myelopathy is noticeably improved by cyanocobalamin.Abbreviations: EHL: extensor hallucis longus; MRI: magnetic resonance imaging; NCS: nerve conduction study.

The early diagnosis of tuberculosis (TB) in infants is challenging owing to the non-specific clinical manifestations in infancy, particularly preterm infants. Two cases in preterm infants are reported. Case 1, conceived by in vitro fertilization (IVF), was born at 27 + 1 weeks gestational age weighing 880 g. He presented on Day 85 with intermittent fever. Following a course of systemic broadspectrum antibiotics, he deteriorated, developing acute respiratory distress syndrome (ARDS). TB Xpert polymerase chain reaction (PCR) of the sputum obtained by laryngeal aspiration confirmed Mycobacterium TB (MTB) on Day 97. He responded well to anti-tuberculosis treatment. His mother had a fever and headache and was diagnosed with COVID-19 79 days after delivery. The fever persisted for nearly 10 days after empirical treatment. She was eventually diagnosed with miliary TB and tuberculous meningitis 92 days after delivery. Case 2 was conceived by IVF and born at 36 + 6 weeks gestation weighing 2430 g. She presented on Day 15 with intermittent fever and abdominal distention. Chest and abdominal radiography demonstrated severe diffuse inflammatory changes. She had received BCG vaccination, and there was no history of contact with active TB. TB PCR of the sputum obtained by laryngeal aspiration confirmed MTB on Day 19. The asymptomatic mother was subsequently diagnosed with pulmonary and genital TB. TB should be considered as a differential diagnosis in infants with unexpected respiratory distress and fever. Women evaluated for infertility should be routinely screened for TB before receiving assisted reproductive treatment, particularly where TB is prevalent.Abbreviations: ARDS: acute respiratory distress syndrome; BPD: bronchopulmonary dysplasia; CPAP: continuous positive airway pressure; CSF: cerebrospinal fluid; HIV: human immunodeficiency virus; IVF: in vitro fertilization; KMC: Kangaroo mother care; MDR: multidrug-resistant; MTB: Mycobacterium tuberculosis; NICU: neonatal intensive care unit; PCR: polymerase chain reaction; PS: pulmonary surfactant; SIMV: synchronised intermittent mandatory ventilation; TB: tuberculosis; CT: computed tomography; HREZ: isoniazid, rifampin, ethambutol and pyrazinamide; IGRA: interferon-γ release assay; IVF: in vitro fertilization; PCR: polymerase chain reaction; TB: tuberculosis.

Background: Foreign bodies lodged in the oral cavity can be life-threatening. Their removal should be determined on the basis of the patient's condition, the type of object, the removal techniques available, the appropriate medication available and the potential complications.

Case report: A 9-month-old girl was brought to the emergency room by ambulance after a part of a toy became stuck in her oral cavity. Her father had unsuccessfully attempted to remove it at home. A blue cylindrical, rigid plastic toy part was seen during examination of her oral cavity and her tongue was trapped inside it. On initial assessment, her vital signs were within the normal range. She was agitated, a small amount of saliva mixed with blood was coming out of her mouth and she could not swallow her spittle. She was treated in the resuscitation room by an otorhinolaryngologist and a paediatric emergency team, and the foreign body was removed using bayonet forceps inside the mouth. The child was monitored in the paediatric emergency observation unit for 6 hours for signs of asphyxia and aspiration, and she was discharged without complications.

Conclusion: Foreign bodies in the oral cavity can cause serious complications, including injury, bleeding and sudden airway obstruction. Experienced healthcare professionals, especially those skilled in airway management, should handle these cases using a multidisciplinary approach to ensure respiratory safety.Abbreviations: LMA: laryngeal mask airway; PED: paediatric emergency department.

Background: Data on imported infections in children and young people (CYP) are sparse.

Aims: To describe imported infections in CYP arriving from malaria-endemic areas and presenting to UK emergency departments (ED) who were screened for malaria.

Methods: This is a retrospective, multi-centre, observational study nested in a diagnostic accuracy study for malaria rapid diagnostic tests. Any CYP < 16 years presenting to a participating ED with a history of fever and travel to a malaria-endemic area between 1 January 2016 and 31 December 2017 and who had a malaria screen as a part of standard care were included. Geographical risk was calculated for the most common tropical infections.

Results: Of the 1414 CYP screened for malaria, 44.0% (n = 622) arrived from South Asia and 33.3% (n = 471) from sub-Saharan Africa. Half (50.0%) had infections common in both tropical and non-tropical settings such as viral upper respiratory tract infection (URTI); 21.0% of infections were coded as tropical if gastro-enteritis is included, with a total of 4.2% (60) cases of malaria. CYP diagnosed with malaria were 7.44 times more likely to have arrived from sub-Saharan Africa than from South Asia (OR 7.44, 3.78-16.41).

Conclusion: A fifth of CYP presenting to participating UK EDs with fever and a history of travel to a malaria-endemic area and who were screened for malaria had a tropical infection if diarrhoea is included. A third of CYP had no diagnosis. CYP arriving from sub-Saharan Africa had the greatest risk of malaria.Abbreviations: CYP: children and young people; ED: emergency department; PERUKI: Paediatric Emergency Research in the UK and Ireland; RDT: rapid diagnostic test; VFR: visiting friends and relatives.

Background: Rheumatic carditis is the leading cause of permanent disability caused by damage of the cardiac valve. This study aimed to determine the outcome and predictors of valve surgery in patients with acute rheumatic fever (ARF) and recurrent rheumatic fever (RRF).

Methods: This was a retrospective study of patients diagnosed with ARF and RRF between 2006 and 2021. The predictors of valve surgery were analysed using multivariable Cox proportional regression.

Results: The median age of patients with ARF and RRF (n=92) was 11 years (range 5-18). Seventeen patients (18%) were diagnosed with RRF. The most common presenting symptoms included clinical carditis (87%), heart failure (HF) (63%), fever (49%) and polyarthralgia (24%). Patients with moderate-to-severe rheumatic carditis (88%) were given prednisolone. After treatment, the severity of valvular regurgitation was reduced in 52 patients (59%). Twenty-three patients (25%) underwent valve surgery. The incidence of HF, RRF, severe mitral regurgitation on presentation, left ventricular enlargement and pulmonary hypertension was greater in the surgical group than in the non-surgical group. Recurrent rheumatic fever (hazard ratio 7.9, 95% CI 1.9-33.1), tricuspid regurgitation (TR) gradient ≥ 42 mmHg (HR 6.3, 95%CI 1.1-38.7) and left ventricular end-diastolic dimension (LVEDD) ≥6 cm (HR 8.7, 95% CI 2.1-35.9) were predictors of valve surgery (multivariable Cox proportional regression analysis).

Conclusion: Clinical carditis was the most common presenting symptom in patients with ARF and RRF. The majority of patients responded positively to prednisolone. These findings highlight the predictors of valve surgery following ARF, including RRF, TR gradient ≥ 42 mmHg and LVEDD ≥ 6 cm.Abbreviations: ARF: acute rheumatic fever; CRP: C-reactive protein; ESR: erythrocyte sedimentation rate; GAS: group A beta-haemolytic Streptococcus; HF: heart failure; HR: hazard ratio; LVEDD: left ventricular end-diastolic dimension; MR: mitral regurgitation; RHD: rheumatic heart disease; RRF: recurrent rheumatic fever; TR: tricuspid regurgitation.

Iron deficiency anaemia (IDA) is common in children. Treatment usually consists of oral iron therapy and, if severe, inpatient hospitalisation with blood transfusion. Providers may also undertake an echocardiogram, depending on availability and the severity of anaemia. A male toddler with nutritional IDA, haemoglobin of 1.7 g/dL (the lowest level in the literature) and hypertension had left ventricular hypertrophy (LVH) on the initial echocardiogram. He was managed acutely with judicious blood transfusion, followed by oral iron supplementation and anti-hypertensive medication at discharge. Repeat echocardiogram a month later demonstrated slight improvement of the LVH but the hypertension persisted at follow-up 6 months later. There was complete resolution of the findings a year later. In chronic nutritional IDA, there can be structural cardiac changes which can affect the acute management and requires close follow-up. It is important to use echocardiography in such severe cases.Abbreviations: CHF: congestive heart failure; CM: cardiomyopathy; DCM: dilated cardiomyopathy; ICU: intensive care unit; IDA: iron deficiency anaemia; IVSd: interventricular septum in diastole; LA: left atrium; LV: left ventricle; LVEDD: left ventricular end-diastolic diameter; LVH: left ventricular hypertrophy; LVM: left ventricular mass; LVPWd: left ventricular posterior wall end-diastole; PRBC: packed red blood cells.

Background: The aim of the study was to assess the health-related quality of life (HRQOL) and cognitive function in patients with Crigler-Najjar syndrome (CNS) type I and its impact on their lives.

Methods: Twenty-one patients diagnosed with CNS type I aged 1 month to 18 years in the Paediatric Hepatology Unit of Cairo University Children's Hospital were enrolled in this cross-sectional observational study. The patients' health-related quality of life (HRQOL) was assessed using the World Health Organization Quality Of Life BREF questionnaire (WHOQOL-BREF) and the Short Form 36 Health Survey Questionnaire (SF-36). Cognitive function was assessed using the Stanford-Binet Intelligence Scale: Fifth Edition (SB5).

Results: All patients had a history of admission to a neonatal intensive care unit, 17 were managed by phototherapy only and 5 also underwent exchange transfusion. According to the WHOQOL questionnaire, 11 cases (52.4%) had a low QOL score, and 7 of 13 patients had an average score for their total IQ test. Cases with poor compliance to phototherapy had statistically significantly lower QOL scores (p=0.001), while, according to the SF36 survey, cases who received exchange transfusion had statistically significantly higher cognitive function (p=0.03). There was a positive correlation between the neurological effect as a complication of the disease and poor physical QOL.

Conclusion: Paediatric patients with CNS have significantly lower HRQOL, especially physically, psychologically and environmentally. It is recommended that assessment of HRQOL should be a routine part of follow-up in CNS patients. Patients whose HRQOL is affected receive regular psychiatric counselling, social support and rehabilitation.Abbreviations: CNS: Crigler-Najjar syndrome; HRQOL: health-related quality of life; IQ: intelligence quotient; NICU: neonatal intensive care unit; QOL: quality of life; SB5: Stanford-Binet intelligence scale: 5th edition; SF-36: Short Form 36 Health Survey Questionnaire; UDGT: uridine diphosphate glucuronosyl transferase; UGT1A1: uridine 5'-diphosphate glucuronosyltransferase; WHOQOL-BREF: World Health Organization Quality of Life Brief Version.

A 16-year-old female presented to an outpatient clinic with a 13-year history of recurrent episodes of abdominal pain, vomiting and mild cutaneous swelling, either spontaneously or following minor trauma. The episodes occurred every 1-2 months. There was no family history of a similar complaint or hereditary angio-oedema (HAE). At the age of 16, evaluation confirmed the diagnosis of HAE type II, characterised by low C4 levels and reduced C1 esterase inhibitor function. The patient was prescribed tranexamic acid 1 g twice daily as well as C1 esterase inhibitor used as rescue medication during symptomatic episodes. This case report emphasises the importance of considering a diagnosis of HAE in patients with recurrent, unexplained abdominal pain, even in the absence of a positive family history of HAE.Abbreviations: ANA Antinuclear antibodies; C1-INH C1-inhibitor; CBC Complete blood count; FMF Familial Mediterranean fever; HAE Hereditary angioedema; IBD Inflammatory bowel diseases; SDP Solvent detergent-treated plasma; SLE Lupus erythematosus.

Background: The World Health Organization recommends the use of a three-tier triage system to recognise a sick child in low- and middle-income countries. The three tiers are based on standardised emergency and priority signs. No studies have evaluated the prevalence or reliable detection of these emergency signs.

Aims: To determine the prevalence of WHO emergency signs and the underlying causes, and to determine whether nurses could reliably detect these signs in children presenting to the emergency department at Port Moresby General Hospital in Papua New Guinea.

Methods: A prospective study measured inter-rater agreement between nurses at triage and a blinded second assessor trained in paediatrics.

Results: The prevalence of emergency signs was 16.7%: 32 of 192 children had these signs at presentation; 18 (9.4%) had severe respiratory distress; 10 (5.2%) had severe dehydration; and 3 (1.6%) had convulsions. There was an acceptable inter-rater agreement between nurses and doctors (Cohen's Kappa score >0.4) for some signs: subcostal recession, intercostal recession, nasal flaring, lethargy, weak volume pulses, convulsions, sunken eyes and a poor conscious state. Obstructed breathing, cyanosis, tracheal tug and cold hands and feet were less commonly detected and had poor inter-rater agreement (Kappa score <0.4).

Conclusions: Effective screening at triage can enable prompt emergency treatment by nurses and can help focus doctors' attention on children who require it most. There is a need for additional training in the identification of some emergency signs.

Abbreviations: CED: children's emergency department; ETAT: emergency triage assessment and treatment; HCC: Hospital Care for Children; PMGH: Port Moresby General Hospital; PNG: Papua New Guinea; WHO: World Health Organization.

Background: Enteritis is one of the rare systemic manifestations in childhood-onset systemic lupus erythematosus and its diagnosis is very challenging. This is a rare case of an adolescent girl with recurrent non-specific gastro-intestinal symptoms which were later diagnosed to be owing to lupus enteritis, the only presenting manifestation of an active flare.

Case report: A 15-year-old girl was admitted with recurrent episodes of abdominal pain, vomiting and loose stools. She had diffuse abdominal tenderness. Abdominal ultrasonography demonstrated moderate ascites. A contrast-enhanced abdominal computerised tomography scan revealed thickening of the small bowel wall. On colonoscopy, there were rectal erosions, and microscopic examination of the biopsy specimens demonstrated mild inflammation. Non-specific enteritis was diagnosed and she was given antibiotics and supportive care. She was re-admitted 6months later with abdominal pain. An abdominal contrast-enhanced computerised tomography scan revealed thickening of the bowel wall and the target sign and comb sign in the small intestine. The anti-nuclear antibody was positive. Renal biopsy demonstrated grade 2 lupus nephritis. Lupus enteritis was diagnosed and the case satisfied the 2019 EULAR-ACR criteria and SLICC criteria. She was treated with methylprednisolone, cyclophosphamide and hydroxychloroquine. She improved with treatment and has remained asymptomatic during follow-up.

Conclusion: This case emphasises the need for healthcare providers to be alert to the possibility of lupus enteritis. It also highlights the importance of close follow-up of cases who have non-specific gastro-intestinal symptoms. Lupus enteritis should be considered in the differential diagnosis of recurrent non-specific gastro-intestinal symptoms in children, especially adolescents, to ensure timely diagnosis and treatment.Abbreviations: ACR American College of Rheumatology; ANA anti-nuclear antibody; CRP: C-reactive protein; CT: computerised tomography; CECT: contrast-enhanced computerised tomography; EULAR: European League Against Rheumatism; GI: gastro-intestinal; LE: lupus enteritis; SLE systemic lupus erythematosis; SLICC: Systemic Lupus International Collaborating Clinics; SLEDAI: SLE disease activity index.