腸管神経節細胞僅少症

PURPOSE: Congenital hypoganglionosis (CH) is a rare enteric neuropathy characterized by reduced and small ganglion cells in the myenteric plexus. We aimed to systematically review the clinical outcomes and diagnostic evolution of CH in children. METHODS: A systematic review was conducted in accordance with PRISMA guidelines using PubMed and Web of Science (1978-2025). Of 396 identified records, 32 studies including 298 pediatric patients were analyzed. Disease extent was classified as diffuse/panintestinal, colon-limited, segmental, or unspecified. RESULTS: Among 298 patients, 144 (48%) were classified as diffuse/panintestinal, 25 (8%) as colon-limited, 22 (7%) as segmental, and 107 (36%) were unspecified. Among patients with diffuse/panintestinal disease for whom mortality data were available (n = 105), 28 deaths (26.7%) were documented, whereas no deaths were reported in colon-limited cases (0/24). Most diffuse cases presented in the neonatal period. Diagnostic methods evolved over time, with increasing use of quantitative HuC/D staining after 2020. Surgical management also shifted from resection-based procedures to phenotype-based strategies, including stoma formation and intestinal rehabilitation. CONCLUSION: Diffuse or panintestinal neonatal forms are associated with high mortality, whereas colon-limited disease is associated with favorable survival. Advances in diagnostic techniques have supported phenotype-based management. Extent-based stratification may improve outcomes in severe cases.

BACKGROUND: Neonatal pediatric intestinal pseudo-obstruction (PIPO) is rare and may closely mimic Hirschsprung disease, particularly when caused by enteric neuropathies. CASE PRESENTATION: We report the case of an 18-day-old female neonate who presented with delayed passage of meconium, persistent bilious vomiting, progressive abdominal distension, and significant weight loss since birth. Initial imaging demonstrated dilated bowel loops without evidence of mechanical obstruction. A rectal biopsy suggested distal aganglionosis, and a colostomy was performed. Despite anatomically appropriate diversion, the patient continued to have bilious gastric output, abdominal distension, and an inability to tolerate enteral feeds. Further surgical evaluation was therefore undertaken, and multi-level full-thickness intestinal biopsies were obtained. Histopathological analysis revealed a reduced density and abnormal morphology of ganglion cells within the myenteric plexus, consistent with hypoganglionosis, establishing the diagnosis of pediatric intestinal pseudo-obstruction (PIPO). CONCLUSIONS: This case demonstrates how neonatal hypoganglionosis can follow a Hirschsprung-like diagnostic pathway yet fail to respond to diversion, underscoring the limitations of suction biopsy when clinical evolution is discordant with initial histological findings. Prolonged dependence on parenteral nutrition and limited access to advanced therapeutic options further illustrate the challenges of managing severe neonatal PIPO in resource-limited settings.

Hirschsprung disease/aganglionosis of the colon is the most common form of intestinal motility disorder, especially in children. In this review article, which was presented at the specialist meeting of the German Paediatric Pathology Working Group, insight into the histopathological diagnosis of Hirschsprung's disease, including the technical approach to biopsies, will be provided. In addition, differential diagnoses of chronic intestinal pseudo-obstruction (CIPO), which can be identified with the help of histopathological diagnostics, are presented. These include-among others-hypoganglionosis, intestinal neuronal dysplasia, ganglionitis, and leiomyositis.

BACKGROUND/AIMS: Focal hypoganglionosis with adult-onset megacolon (FHAM) is marked by colon dilation proximal to a narrowed segment, with unaffected small bowel motility. Despite similar initial symptoms, FHAM may be more amenable to surgical intervention without recurrence, unlike chronic intestinal pseudo-obstruction (CIPO). The long-term outcomes of FHAM remain underexplored, prompting a comparison of its clinical features and prognosis with CIPO. METHODS: We conducted a retrospective analysis of patients presenting with chronic constipation and megacolon, prospectively recruited between January 2017 and December 2023. Within this cohort, 87 patients were diagnosed with FHAM and 13 with CIPO, all of whom were included in the study. The median follow-up period was 3.0 years for patients with FHAM and 2.8 years for those with CIPO. RESULTS: The proportion of females was greater in both groups (FHAM, 67.8%; CIPO, 53.8%). The median age at diagnosis was similar between the groups (FHAM, 54.5 years; CIPO, 45.3 years). Surgery was performed in 46.0% of patients with FHAM and 69.2% of those with CIPO. Unplanned postoperative hospitalizations and the need for reoperation due to disease recurrence were notably lower in patients with FHAM. None of the patients with FHAM required long-term total parenteral nutrition, in contrast to 46.2% of patients with CIPO. Significant inter-group differences were observed in body mass index at the last follow-up. CONCLUSIONS: Patients with FHAM exhibit a more favorable long-term prognosis and lower postoperative recurrence rates than patients with CIPO. This study underscores the importance of differentiating between these conditions and precisely selecting surgical candidates.

BACKGROUND: Managing pain in patients with incurable intestinal failure requires a multidisciplinary approach that addresses complex pharmacological and systemic challenges while navigating prognostic uncertainties. CASE PRESENTATION: This case report of gastrointestinal hypoganglionosis demonstrates the use of subcutaneous ketamine when conventional opioids fail due to intestinal malabsorption and dysmotility. Effective care required interdisciplinary collaboration, yet persistent discordance between the patient’s curative expectations and her life-limiting prognosis hindered timely advance care planning and community support transitions. CONCLUSIONS: Prognostic uncertainty, compounded by the condition’s rarity, highlights the need for early palliative care integration in non-malignant conditions, to ensure that care goals align with patient and family priorities. The case report advocates for adaptable care models that bridge inpatient and community services, even amid prognostic ambiguity, to prevent fragmented care during critical transitions.