Paediatrics and International Child Health

Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm...

Tuberculosis is a leading cause of mortality in children worldwide. One of the greatest challenges in its management is the difficulty of diagnosis as the manifestations are non-specific and often mimic other illnesses. Neurological infection occurs in approximately 1% of patients diagnosed with tuberculosis, and usually takes the form of tuberculous meningitis or tuberculoma. An 11-year-old girl who was diagnosed with acute disseminated encephalomyelitis, a rare immunological manifestation of tuberculosis, is presented...

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...

INTRODUCTION: Raised serum bilirubin levels can cause kernicterus, and premature infants are at increased risk owing to metabolic immaturity. The standard treatment for neonatal jaundice is phototherapy, but probiotics alone can reduce the duration of phototherapy and hospitalisation. OBJECTIVES: To determine the effectiveness of phototherapy with and without probiotics for the treatment of indirect hyperbilirubinaemia in preterm neonates. PATIENTS AND METHODS: The open-labelled randomised controlled trial was conducted from January 2022 to January 2023 in the neonatal unit of the University of Lahore Teaching Hospital, Pakistan...

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...

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)...

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...

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...

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...

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...

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...

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Vitamin D plays an active role beyond mineral metabolism and skeletal health, including regulation of the immune system. Vitamin D deficiency is widely prevalent, and observational studies link low vitamin D status to a risk of infections and auto-immune disorders. Reports indicate an inverse relationship between vitamin D status and such conditions. This review details vitamin D signalling interactions with the immune system and provides experimental and clinical evidence evaluating vitamin D status, vitamin D supplementation and host susceptibility to infections, inflammation and auto-immunity...

Stroke in children is more common than is often realised; there are numerous potential causes, including carotid artery injury resulting from minor head or neck trauma, as well as genetic conditions associated with thrombophilia. A 13-year-old boy suffered an arterial ischaemic stroke (AIS) secondary to dissection of the left internal carotid artery (ICA) after he headed the ball during a game of football. He presented with generalised tonic-clonic seizure, loss of consciousness, right-sided hemiplegia and aphasia...

Scurvy, the condition associated with severe vitamin C deficiency, is believed to be one of the oldest diseases in human history. It was particularly prevalent during the Age of Sail, when long sea voyages without access to fresh food resulted in an epidemic which claimed millions of lives; however, scurvy has existed across time and geography, occurring whenever and wherever diets are devoid of vitamin C. Young children, specifically, were affected by the emergence of 'infantile scurvy' in the 19th century owing to the use of heated milk and manufactured infant foods of poor nutritional quality...

BACKGROUND: Smear-positive adults with tuberculosis are the main source of childhood tuberculosis. The evaluation of children exposed to tuberculosis and determination of the disease stages are the cornerstones of managing childhood tuberculosis. AIM: To determine the frequency of tuberculous contact, latent tuberculosis infection and tuberculosis disease in children who were in contact with smear-positive adults. METHODS: This is a single-centre, retrospective study...

Increasing numbers of populations in the West are restricting their intake of meat and other animal products for reasons relating to health or ethics; in many countries, these restrictions are already common for cultural, religious, or socio-economic reasons. By following their parent's diet, children are exposed in parallel. This narrative review aims at assessing current data regarding vegetarian diets in children from birth to 18 years of age, which include, by increasing degree of restriction, flexitarian, lacto-ovo-vegetarian, lacto-vegetarian, pescatarian, vegan and macrobiotic diets...

Varicella infection can present with a variety of neurological manifestations, the most common of which are cerebellitis and encephalitis. A 12-year-old girl presented with headache, altered sensorium, blurring of vision and status epilepticus 2 weeks after she developed varicella lesions. Imaging demonstrated cerebral venous sinus thrombosis involving the left transverse sinus, sigmoid sinus and internal jugular vein with a haemorrhagic infarct in the left parieto-occipital region. Measures were taken to decrease the intracranial pressure, and she was commenced on anti-convulsants (phenytoin) and heparin infusion, following which she improved and was discharged after 2 weeks...

BACKGROUND: Rabies is a fatal disease caused by the rabies virus, usually transmitted by a bite by an infected animal. Because there is no effective treatment, prophylaxis is crucial. The aim of the study was to analyse the circumstances of exposure, characterise the animals that were a potential source of infection and evaluate the frequency of post-exposure prophylaxis in children. METHODS: This was a retrospective analysis of the medical records of 494 children who had been bitten, scratched or salivated on by an animal and were seen consecutively between 2015 and 2019 in the Department of Paediatric Infectious Diseases, Medical University of Warsaw...

BACKGROUND: Despite its associated benefits which include better long-term pulmonary and neurodevelopmental outcome, the use of caffeine for apnoea of prematurity (AoP) has been limited in low- and middle-income countries (LMIC). AIM: To better understand current caffeine use, the barriers and facilitators to its use and perceptions and practices in LMIC which have a disproportionately high burden of prematurity. METHODS: An anonymous online global survey was conducted, targeting healthcare providers working and training in paediatrics and/or neonatology in LMIC...