Obstructive sleep apnea (OSA) is common in children and is most frequently associated with adenotonsillar hypertrophy. However, similar symptoms may occasionally reflect more serious upper airway pathology. We report a previously healthy 3-year-old boy who presented with snoring, mouth breathing, witnessed apneas, and persistent nasal obstruction in the setting of an acute viral upper respiratory illness. Initial flexible nasopharyngeal endoscopy was limited by copious secretions and poor cooperation, with no obvious mass identified. The subsequent development of epistaxis prompted repeat endoscopic evaluation, which revealed a left-sided nasopharyngeal mass. Imaging demonstrated an aggressive parameningeal lesion with skull base erosion and extension into the cavernous sinus. Histopathological examination, supported by positive immunohistochemical staining for desmin, myogenin, and MyoD1, confirmed embryonal rhabdomyosarcoma. The patient received VAC-based chemotherapy and proton radiotherapy, with subsequent tumor regression and stable findings on long-term imaging follow-up; he remained clinically well approximately four years after completion of therapy. This case highlights the potential for diagnostic anchoring when common symptoms of pediatric OSA coexist with apparently benign conditions such as adenotonsillar hypertrophy or an acute respiratory infection. Incomplete nasopharyngeal visualization should not be considered reassuring when symptoms persist or evolve. The emergence of red-flag features, particularly epistaxis, progressive nasal obstruction, or failure to improve as expected, should prompt timely reassessment and consideration of cross-sectional imaging to exclude an underlying structural lesion.
Acute respiratory failure in children is most commonly caused by respiratory infections, asthma, foreign body aspiration, trauma, and disorders affecting the respiratory pump or the central control of breathing. We describe an unusual and underreported cause of severe respiratory compromise in a previously healthy 2-year-old boy. The patient presented with acute hypoxemic respiratory failure that was poorly responsive to inhaled bronchodilators, systemic corticosteroids, and oxygen therapy, requiring endotracheal intubation and invasive mechanical ventilation. Extensive diagnostic investigations did not identify a common infectious cause or a conventional aspirated foreign body. Chest imaging demonstrated complete left lung atelectasis and right upper lobe atelectasis. Flexible bronchoscopy with therapeutic bronchoalveolar lavage revealed and removed abundant white, highly viscous endobronchial material, resulting in progressive re-expansion of the affected lung and marked clinical improvement. The child was successfully extubated and discharged from the hospital after 20 days of hospitalization. A subsequent review of the clinical history identified the likely precipitating event: inhalation of gluten-free flour after accidental activation of a planetary mixer during cake preparation. We hypothesize that inhalation of a large amount of powder contributed to airway obstruction through direct particulate deposition and/or secondary inflammatory mucus formation; hydration of a hydrocolloid component may also have contributed to the marked viscosity of the endobronchial material, although this mechanism could not be directly demonstrated. This case highlights the importance of meticulous history-taking in identifying rare causes of acute respiratory failure and illustrates how seemingly innocuous environmental exposures may result in life-threatening airway obstruction requiring prompt recognition and intervention.
ObjectiveWe aimed to delineate the clinical phenotypes and symptom evolution of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome in Chinese children and to evaluate the real-world efficacy of rituximab therapy.MethodsWe retrospectively reviewed the medical records of seven children diagnosed with ROHHAD syndrome between 2010 and 2025. Clinical data on baseline characteristics, core symptoms, tumor status, and therapeutic responses were extracted and analyzed using descriptive statistics.ResultsAmong the 7 patients, there were 3 males and 4 females. The median age of onset was 2.8 years (2.0–7.9 years), and the median age at diagnosis was 3.8 years (3.5–8.5 years). The median diagnostic delay was 1.2 years (range, 0.5–3.6 years). All patients exhibited the triad of rapid-onset obesity, hypothalamic dysfunction, and autonomic dysregulation. The median ages of onset for obesity, hypothalamic dysfunction, and autonomic dysregulation were 3.2, 3.1, and 3.4 years, respectively. Neuropsychiatric abnormalities were universal (7/7, 100%), emerging concurrently with or shortly after weight gain. Central hypoventilation was observed in 5 patients (71.4%). Neural crest-derived tumors were found in 4 patients (57.1%). Cardiac involvement was present in 4 patients (57.1%), with 3 cases developing severe heart failure. All patients had neurological abnormalities, with 2 cases accompanied by epileptic seizures. Interleukin-6 (IL-6) levels were tested in 4 patients, with elevation in 2 cases. Six patients received first-line immunotherapy (corticosteroids/intravenous immunoglobulin) with poor response. Three patients received rituximab; all showed transient initial improvement but ultimately experienced relentless disease progression, and one patient died. The overall prognosis was poor: one death, one vegetative state, and progressive disease in the remaining 5 patients.ConclusionROHHAD syndrome presents with highly heterogeneous clinical manifestations. Neuropsychiatric abnormalities may occur in parallel with or closely following rapid-onset obesity. Unexplained obesity and neuropsychiatric abnormalities in young children should raise high suspicion for this syndrome. Such patients warrant routine multidisciplinary monitoring. In the three patients who received rituximab, clinical responses were variable and transient, with no sustained long-term improvement observed. However, due to the small sample size and heterogeneous treatment protocols, no definitive conclusion regarding rituximab efficacy can be drawn.
BackgroundEarly prophylactic low-dose hydrocortisone has been proposed to reduce inflammation and to compensate for relative adrenal insufficiency in extremely preterm infants. Its overall balance of benefit and risk remains uncertain.ObjectiveTo evaluate whether hydrocortisone initiated within the first 24–48 h after birth reduces bronchopulmonary dysplasia (BPD) and mortality in infants born before 30 weeks' gestation.MethodsThis systematic review and meta-analysis followed PRISMA 2020 guidance and was registered in PROSPERO. PubMed, Cochrane CENTRAL, Scopus, and Web of Science were searched from inception to May 2026. Eligible studies enrolled infants born before 30 weeks' gestation who received early prophylactic systemic hydrocortisone at a low dose. Low dose was defined as a starting dose of no more than 2.0 mg/kg/day, begun within 24–48 h of birth. The comparator was placebo or no hydrocortisone. Randomized and quasi-randomized trials, their follow-up reports, and comparative observational studies were eligible. Random-effects meta-analyses were performed using risk ratios (RRs) or mean differences with 95% confidence intervals (CIs).ResultsFourteen studies with 3,416 infants were included. Early hydrocortisone did not significantly improve survival without BPD at 36 weeks' postmenstrual age (RR: 1.07, 95% CI: 0.97–1.19, p = 0.18). It also did not significantly reduce BPD at 36 weeks (RR: 0.94, 95% CI: 0.85–1.04, p = 0.25) or mortality before discharge (RR: 1.07, 95% CI: 0.77–1.49, p = 0.69). The duration of respiratory support and the need for oxygen at discharge were similar between groups. Subgroup analyses suggested a possible benefit in infants exposed to chorioamnionitis and in those born before 26 weeks, but these findings were exploratory. Hydrocortisone increased the risk of late-onset sepsis (RR: 1.19, 95% CI: 1.05–1.35, p = 0.01). Gastrointestinal perforation, necrotizing enterocolitis, major neonatal morbidities, and the available neurodevelopmental outcomes did not differ significantly between groups.ConclusionCurrent evidence does not support the routine use of early prophylactic hydrocortisone in all extremely preterm infants. Adequately powered trials and individual patient data analyses are needed to identify the subgroups most likely to benefit and to clarify long-term safety.Systematic Review Registrationhttps://www.crd.york.ac.uk/prospero/view/CRD420261402317, PROSPERO CRD420261402317.
METTL23 is a rare gene encoding a lysine/arginine methyltransferase associated with autosomal recessive intellectual disability 44 (MIM 615942). To date, published cases have been limited to neurodevelopmental phenotypes, with recent mechanistic work also implicating METTL23 in histone H3R17 methylation and negative regulation of NF-κB–mediated proinflammatory signaling. We previously reported the neurodevelopmental phenotype of a Chinese girl with a novel homozygous METTL23 splice variant (c.322 + 1del). Here we report the long-term follow-up and fatal outcome of the same patient. Over a 3-year follow-up period, the patient experienced three episodes of autoimmune hemolytic anemia and a secundum atrial septal defect treated by percutaneous closure. At 4 years and 6 months, she was admitted with fever and cyanosis progressing to Epstein–Barr virus-associated cytokine storm with features overlapping, but not fulfilling, HLH-2004 criteria; the episode was managed clinically as septic multi-organ dysfunction. The illness was complicated by acute kidney injury requiring three sessions of continuous renal replacement therapy, myocarditis, and methicillin-resistant Staphylococcus aureus superinfection. Despite intensive multidisciplinary treatment, the illness progressed to multifocal intracranial hemorrhage with herniation, and the family elected to discontinue care; the patient died shortly thereafter. This case extends the phenotypic spectrum of METTL23-related disorder beyond neurodevelopmental impairment to include recurrent autoimmune cytopenia and a fatal virus-triggered cytokine storm. Given the reported role of METTL23 in restraining NF-κB–driven cytokine production, we hypothesize that loss-of-function variants may confer susceptibility to dysregulated inflammatory responses upon viral triggers, independent of whether formal HLH criteria are met. Long-term multidisciplinary surveillance, including vigilance for infection-triggered hyperinflammation, may be warranted in patients with METTL23-related disorder.
