慢性特発性偽性腸閉塞症

[This corrects the article DOI: 10.3389/fped.2026.1761705.].

BACKGROUND: Intestinal failure (IF) is a rare condition in which the intestine cannot maintain adequate nutrient absorption to support maintenance and/or growth. Data on pediatric home parenteral nutrition (HPN) in Korea are limited. We investigated the clinical characteristics of children with IF receiving HPN. METHODS: A nationwide multicenter retrospective study was conducted across 10 tertiary hospitals in Korea from April 2023 to June 2024. Patients who were receiving HPN and had initiated parenteral nutrition (PN) in a hospital at ≤18 years of age were included. Clinical characteristics, including catheter-related bloodstream infection (CRBSI), intestinal failure-associated liver disease (IFALD), micronutrient status, and anthropometric Z-scores, were analyzed at enrollment and compared with values at HPN initiation. RESULTS: A total of 51 patients (median age: 8.4 years) were enrolled. The most common etiologies were chronic intestinal pseudo-obstruction (CIPO, 51%) and short bowel syndrome (39%). The median ages at initiation of PN and HPN were 0.8 and 2.5 years, respectively, and the median duration of PN at study enrollment was 7.7 years. Vitamin D deficiency was the most frequent micronutrient deficiency. From PN initiation to enrollment, 70.6% experienced at least one CRBSI episode (1.57/1000 catheter days), 17.6% had catheter thrombosis, and 41.2% had IFALD. Growth outcomes demonstrated persistent growth failure. A PN dependency ratio ≥75% was observed in 52.9% of patients at enrollment, indicating limited enteral autonomy. CONCLUSION: This first nationwide Korean cohort study of pediatric IF reveals CIPO as the leading cause. Despite long-term HPN, patients exhibited high PN dependency and persistent growth failure.

Chronic intestinal and colonic pseudo-obstruction (CIPO) represent a severe and heterogeneous group of gastrointestinal motility disorders with symptoms of bowel obstruction in the absence of a mechanical cause. Neurological and neuromuscular diseases are among the most important etiological factors, caused by dysfunction of the enteric nervous system, extrinsic autonomic pathways and intestinal smooth muscle. However, intestinal dysmotility in these conditions remains frequently under-recognized leading to delayed diagnosis and substantial morbidity. In this review, we detailed the CIPO-related spectrum of clinical presentations and highlighted features that may suggest an underlying neurogenic or neuromuscular substrate. A structured diagnostic approach is outlined, integrating imaging, physiological testing and targeted investigations to detect enteric neuro-muscular impairment. Also, we examined the main pathophysiological mechanisms linking neurological diseases to intestinal dysmotility, including enteric neuropathies, extrinsic autonomic dysfunction, mitochondrial disorders, visceral myopathies and mixed phenotypes. Particular emphasis was placed on immune-mediated enteric neuropathies, which are of special clinical relevance because they may be affected and potentially reversed via immunomodulatory therapy. Management requires a multidisciplinary approach combining nutritional support, pharmacological/interventional strategies and treatment of complications. Identification of gastrointestinal involvement in neurology-related CIPO is critical to better understand underlying mechanisms and improve management of this challenging condition.

The clinical manifestations of acute non-typhoidal Salmonella infection can overlap with underlying very early-onset inflammatory bowel disease (VEO-IBD), complicating early differential diagnosis. We report a 5-year-old boy who presented with fever, paroxysmal abdominal pain, and high-volume watery hematochezia. Initial abdominal ultrasonography revealed a "concentric ring sign" mimicking intussusception, while laboratory tests concurrently demonstrated elevated serum total immunoglobulin E (IgE) levels. Subsequent water-soluble gastrointestinal contrast studies and computed tomography ruled out mechanical intestinal obstruction. Early endoscopy and mucosal biopsy revealed cryptitis and chronic active inflammation from the rectum to the sigmoid colon, and stool cultures isolated Salmonella Typhimurium, with serum total IgE peaking at 2965 IU/mL. Based on these clinical findings, the patient was diagnosed with concurrent acute Salmonella Typhimurium infection and VEO-IBD. The patient received a combined regimen of systemic intravenous cefotaxime sodium and localized therapy comprising dexamethasone retention enemas and mesalazine suppositories, with symptom resolution within 10 days. This case illustrates the value of multimodal imaging and early endoscopy in differentiating overlapping enteric infections from VEO-IBD, and suggests that integrating systemic antimicrobials with localized anti-inflammatory agents may be a feasible therapeutic strategy.

BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystemic disorder that can present with diverse clinical features, including cardiomyopathy and chronic intestinal pseudo-obstruction. However, diagnosing MELAS can be challenging when its manifestations overlap with other genetic syndromes, leading to diagnostic anchoring and potential mismanagement. CASE SUMMARY: A 51-year-old woman with mosaic Turner syndrome presented with concentric left ventricular hypertrophy and mildly reduced systolic function (left ventricular ejection fraction 45%). Her medical history included childhood-onset hearing loss, hypothyroidism, and recurrent intestinal obstruction of unknown etiology, which had been previously attributed to Turner syndrome or its comorbidities. Despite resolution of bowel symptoms during prior hospitalizations, she exhibited persistent hyperlactataemia (4.55 mmol/L), a diagnostic red flag. Cardiac magnetic resonance imaging showed patchy mid-wall late gadolinium enhancement, suggesting a non-ischaemic process. Family history revealed a maternal pattern of cardiomyopathy and stroke-like episodes. Genetic analysis confirmed the m.3243A > G mitochondrial DNA mutation (heteroplasmy 23%), establishing a diagnosis of MELAS. Earlier recognition of mitochondrial dysfunction might have avoided a previous unnecessary laparotomy performed for suspected intestinal ischaemia. DISCUSSION: This case illustrates the clinical challenge of phenotypic masking; features of Turner syndrome masked the underlying MELAS, resulting in a significant diagnostic delay. The coexistence of unexplained cardiomyopathy, recurrent pseudo-obstruction, and persistent hyperlactataemia should prompt consideration of mitochondrial disease, even in patients with an established genetic diagnosis. Clinicians must remain vigilant for multisystemic 'red flags' to avoid diagnostic anchoring and ensure appropriate metabolic and genetic evaluation.