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An early-adolescent boy with a background of Pitt-Hopkins syndrome was transferred to a tertiary paediatric hospital with symptoms of a functional large bowel obstruction. He required extensive surgical intervention including a transverse colectomy, drainage of an abdominal abscess, laparotomy and adhesionolysis, and insertion of a gastrostomy and jejunostomy. He had significant ongoing issues with visceral hyperalgesia that was refractory to a wide range of pharmacological treatments and required admission to the intensive care unit on multiple occasions, and consultations with international experts in Pitt-Hopkins syndrome and pain specialists. An individualised pain plan was created and adjusted over time, with eventual good effect, and he was transferred back to his regional hospital and subsequently discharged home.

Vaping nicotine and marijuana have been increasing among adolescents in the past 5 years. Tetrahydrocannabinol is the psychoactive cannabinoid in marijuana. The COVID-19 pandemic created gaps in healthcare access and visits, making it difficult to collect accurate data on adolescent vaping, willingness to quit and methods used to quit. In addition, the literature lacks information regarding effective evidence-based treatment measures for adolescents who vape. In this report, we seek to address this using two patient cases and detailing the interventions a managed care organisation enacted during this timeframe. Our investigation revealed a relationship between social stressors and vaping among teens. Addressing these underlying stressors and eliciting and treating mental health symptoms and polysubstance use appears to be critical to curbing vaping.

A female in early childhood presented with 6 months of transient swelling of multiple areas of her body, often, but not always, associated with minor trauma. Labs drawn were significant for low C4, low CH50, low C1 esterase inhibitor (C1-INH) antigen and low C1-INH function, which is concerning for hereditary angioedema (HAE) with abnormal C1-INH. Genetic testing through the Invitae Hereditary Angioedema Panel revealed a variant in the SERPING1 gene, c.686-7C>G (Intronic), which was classified as a variant of unknown significance, but is likely pathogenic given patient\'s clinical presentation and recent functional proof of pathogenicity. HAE should be recognised in paediatric patients even without family history. Recognising the symptoms of HAE and confirming diagnosis in early childhood has become more important recently as the first prophylactic therapy, lanadelumab, was approved in February 2023 for long-term prophylaxis in early childhood, which can significantly improve morbidity and quality of life.

Osteopetrosis is a rare genetic disorder resulting in increased bone density and decreased bone remodelling. Bone expansion results in the crowding of neural foramina causing cranial nerve compression. Here, we describe a female infant in her mid infancy presented with no eye contact since birth, and abdominal distension for 2 months. On CT evaluation, sclerotic bones with bilateral optic canal narrowing were present. A crowded posterior fossa with Arnold Chiari type I malformation was seen on MRI evaluation, suggesting a rare association of osteopetrosis with Arnold Chiari\'s malformation.

A boy in early adolescence presented with a 1-week history of visual acuity impairment in his right eye (RE). Fundus examination of the RE revealed an elevated yellow-greyish lesion in the inferior temporal juxtafoveolar area. Findings on optical coherence tomography, fluorescein angiography and optical coherence tomography angiography were compatible with active choroidal neovascularisation (CNV). In the absence of a primary ocular pathology and a potential systemic secondary cause, it was assumed an idiopathic aetiology of CNV. The child was treated with intravitreal injections of aflibercept, showing good anatomical and functional responses. No complications were recorded after the injections. CNV in children is a rare ocular condition that can lead to permanent visual acuity impairment. Although the therapeutic approach remains controversial, anti-vascular endothelial growth factor intravitreal injections represent a safe and effective therapeutic option for CNV in children.

A 13-year-old male asthmatic presented to the general paediatric clinic with papilloedema identified following a check-up with his optician due to blurred vision. His asthma was well controlled on a moderate dose of inhaled corticosteroid and there had been no recent increase or decrease in the dose. A diagnosis of benign intracranial hypertension (BIH) was made based on a raised cerebrospinal fluid opening pressure, papilloedema, a normal neurological examination and normal neuroimaging. The only associated risk factor was his inhaled corticosteroids. He was commenced on acetazolamide and the inhaled corticosteroid dose was reduced, resulting in resolution of his papilloedema. This case serves to highlight that steroid side effects including BIH may occur at moderate doses of inhaled corticosteroids and that inhaled corticosteroid dose should be regularly reviewed and decreased to the lowest dose that maintains asthma control.

Brucellosis is a common zoonotic disease worldwide. It has protean clinical manifestation and sometimes may has a life-threatening complication. A 4-year-old boy presented with a history of fever, myalgia and appetite loss for 3 weeks. On examination, he had hepatosplenomegaly. The initial working diagnosis was an infection, autoimmune disease and malignancy. Investigations showed positive Brucella serology, and he was started on rifampicin and cotrimoxazole. He was further investigated because of persistent fever, which revealed evidence of haemophagocytic lymphohistiocytosis (HLH). He continued treatment for brucellosis, except rifampicin which was replaced with doxycyclin due to a worsening liver function. The child showed complete clinical and biochemical improvement after 6 weeks of therapy. HLH is a life-threatening condition and should be suspected in children with brucellosis, who did not respond to appropriate antibiotics treatment. Secondary HLH does not always require specific therapy; it may improve with adequate treatment of the underlying condition.

Beta-lactam (BL) antibiotics are the most frequent cause of drug hypersensitivity in children, inducing both immediate and non-immediate reactions. Here we report a case of a 4-year-old child with a disseminated maculopapular exanthema 7 days after the first dose of amoxicillin-clavulanate, referred to our paediatric allergy department. Skin prick tests were negative. Intradermal tests were performed and, after 10 hours, indurated wheals larger than 10×10 mm with progressive erythema and disseminated maculopapular eruption were developed, related to amoxicillin and amoxicillin-clavulanate. Systemic reactions to BL skin tests are rarely reported and the majority are immediate reactions. This case illustrates a rare example of a non-immediate systemic reaction to intradermal tests, underlying the importance of skin testing before drug provocation tests in cases of moderate to severe non-immediate reactions.

Cyclic vomiting syndrome (CVS) is a debilitating functional gastrointestinal disorder. Diagnosis is based on the Rome III criteria. There are no evidence-based guidelines for the management of paediatric CVS, although ondansetron and antimigraine medications are frequently tried. We describe a 13-year-old adolescent girl with severe CVS and numerous hospital admissions for dehydration because of cyclic vomiting. She had failed oral ondansetron therapy. Oral aprepitant (125 mg in the first, and 85 mg on the second and third days), a neurokinin 1 receptor antagonist that has been approved for preventing chemotherapy-induced vomiting or postoperative emesis, was tried in our patient at home during the first prodromal signs of an upset stomach. She had a dramatic response to it, with no further episodes of vomiting since its start. There is an urgent need for randomised clinical studies to assess the efficacy of available treatment options, including aprepitant in patients with severe CVS.