Paediatrics and International Child Health最新文献

Background: Wilson disease is an autosomal recessive disorder owing to defective copper metabolism which causes abnormal accumulation of copper and damage to the liver, brain, kidneys and other organs.

Aim: To describe the clinical features, laboratory investigations and outcome of Wilson disease in children.

Methods: A retrospective observational study was conducted in the paediatric department of a tertiary- care hospital in South India by reviewing medical records between January 2018 and March 2023. The diagnosis of Wilson disease was confirmed by the presence of low serum ceruloplasmin and/or high urine copper excretion in combination with clinical and ophthalmological features.

Results: A total of 32 cases were analysed. The mean (SD) age at presentation was 110 (36) months with a M:F ratio of 1.6:1. Isolated hepatic involvement was seen in 19 (60%) patients while 13 (40%) patients had a neurological presentation, either as an isolated entity or in combination with hepatic manifestations. Low serum ceruloplasmin levels were detected in 31 (96%) patients. Urine copper levels were elevated in all patients. Twenty-one patients were commenced on D penicillamine while 11 patients were treated with a combination chelation therapy with zinc. Eighteen patients (56%) were on regular follow-up.

Conclusion: The clinical presentation of Wilson disease in children is diverse, varying from the more common hepatic or neurological manifestations to the less common atypical forms of the disease. Diagnosis is based on clinical and ophthalmological features in combination with biochemical abnormalities in the form of low ceruloplasmin and high urinary copper. The majority of patients can be medically managed with chelation therapy.

Background: Despite ample sunshine, vitamin D deficiency continues to be prevalent in the Middle East. This pilot study aimed to identify the rate of vitamin D deficiency at a tertiary hospital in Abu Dhabi and to identify the associated risk factors in children and adolescents.

Methodology: A retrospective observational study was conducted using electronic medical records of paediatric patients who underwent 25-hydroxyvitamin D testing at Sheikh Shakhbout Medical City, Abu Dhabi between 1 January 2020 and 31 December 2021. Data on age, gender, ethnicity, weight, body mass index and other potential risk factors for vitamin D deficiency in children were recorded. Patients who were already receiving treatment for vitamin D deficiency were excluded. The collected data were analysed using standard statistical methods.

Results: Of 26,818 patients under 18 years of age who attended the outpatient clinic, 1519 underwent 25-hydroxyvitamin D testing; 51% were male (n = 755). After applying the exclusion criteria, 1311 participants were included, 755 (58%) of whom had vitamin D concentrations of ≤50 nmol/L. Vitamin D deficiency was more common in children aged ≥10 years (69%) than in those <10 years of age (53%) (p < 0.0001). The highest prevalence of vitamin D deficiency was in those older than 16 years (86%). More females (63%, n = 407) than males (52%, n = 348) were identified as vitamin D-deficient (p = 0.0001). Vitamin D deficiency was more commonly identified during summer and autumn (59%) than in winter and spring (44%, p < 0.00001).

Conclusion: Vitamin D deficiency is prevalent in children seeking medical care in the UAE, especially in girls, older children and adolescents, and during the summer and autumn. Paediatricians should have a low screening threshold for hypovitaminosis D, or widespread supplementation should be considered.

Trichobezoars are conglomerates of hair within the gastro-intestinal tract, commonly detected in the stomach, and they can present with the Rapunzel syndrome. Isolated small-bowel trichobezoars are extremely rare. Three female patients presented with abdominal pain and bilious vomiting, and underwent various imaging examinations. Two were diagnosed with small-bowel trichobezoars with intestinal obstruction and one with intestinal obstruction only. All three underwent surgery. Two underwent laparoscopic exploration and one underwent a laparotomy. One and two patients had isolated small-bowel trichobezoars in the ileum and jejunum, respectively. Two patients were followed up by a psychiatrist, and all recovered well without recurrence. These three cases emphasise the importance of a comprehensive medical history and imaging in patients with small-bowel obstruction to determine the possibility of bezoars.

Background: Low birthweight (LBW) is when an infant is born too soon or too small, and it affects one in seven infants in low- and middle-income countries. LBW has a significant impact on short-term morbidity and mortality, and it impairs long-term health and human capital. Antenatal microbial and inflammatory exposure may contribute to LBW.

Methods: Ovid-Medline, Embase and Cochrane databases were searched for English-language articles evaluating inflammatory, microbial or infective causes of LBW, small-for-gestational age, intra-uterine growth restriction or prematurity. Inclusion criteria were human studies including published data; conference abstracts and grey literature were excluded. A narrative synthesis of the literature was conducted.

Results: Local infections may drive the underlying causes of LBW: for example, vaginitis and placental infection are associated with a greater risk of prematurity. Distal infection and inflammatory pathways are also associated with LBW, with an association between periodontitis and preterm delivery and environmental enteric dysfunction and reduced intra-uterine growth. Systemic maternal infections such as malaria and HIV are associated with LBW, even when infants are exposed to HIV but not infected. This latter association may be driven by chronic inflammation, co-infections and socio-economic confounders. Antimicrobial prophylaxis against other bacteria in pregnancy has shown minimal impact in most trials, though positive effects on birthweight have been found in some settings with a high infectious disease burden.

Conclusion: Maternal inflammatory and infective processes underlie LBW, and provide treatable pathways for interventions. However, an improved understanding of the mechanisms and pathways underlying LBW is needed, given the impact of LBW on life-course.

Abbreviations: ESR: erythrocyte sedimentation rate; Hb: haemoglobin; HSP: Henoch-Schönlein purpura; WCC: white-cell count.

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.