• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.27 no.4
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• pp.197-205
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• 2024

T-lymphocytic intestinal leiomyositis is a rare cause of "pediatric intestinal pseudo-obstructions." Diagnosis may be difficult and requires full-thickness bowel biopsies during laparotomy or laparoscopy with possible enterostomy. Currently, immunosuppressive therapy is the only available treatment. A delay in diagnosis and therapy may negatively affect the prognosis because of ongoing fibrotic alterations; therefore, early diagnosis and consequent treatment are crucial. This review summarizes the available information on the nosology, diagnostic steps, and treatment modalities. Here, we report the youngest case of enteric leiomyositis reported in the last two decades and analyze its management by reviewing previous cases.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.5
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• pp.487-492
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• 2019

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.4
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• pp.303-329
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• 2019

Intestinal failure (IF) is the critical reduction of the gut mass or its function below the minimum needed to absorb nutrients and fluids required for adequate growth in children. Severe IF requires parenteral nutrition (PN). Pediatric IF is most commonly due to congenital or neonatal intestinal diseases or malformations divided into 3 groups: 1) reduced intestinal length and consequently reduced absorptive surface, such as in short bowel syndrome (SBS) or extensive aganglionosis; 2) abnormal development of the intestinal mucosa such as congenital diseases of enterocyte development; 3) extensive motility dysfunction such as chronic intestinal pseudo-obstruction syndromes. The leading cause of IF in childhood is the SBS. In clinical practice the degree of IF may be indirectly measured by the level of PN required for normal or catch up growth. Other indicators such as serum citrulline have not proven to be highly reliable prognostic factors in children. The last decades have allowed the development of highly sophisticated nutrient solutions consisting of optimal combinations of macronutrients and micronutrients as well as guidelines, promoting PN as a safe and efficient feeding technique. However, IF that requires long-term PN may be associated with various complications including infections, growth failure, metabolic disorders, and bone disease. IF Associated Liver Disease may be a limiting factor. However, changes in the global management of IF pediatric patients, especially since the setup of intestinal rehabilitation centres did change the prognosis thus limiting "nutritional failure" which is considered as a major indication for intestinal transplantation (ITx) or combined liver-ITx.

• Clinical and Experimental Pediatrics
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• v.51 no.6
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• pp.655-659
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• 2008

Intestinal pseudo-obstruction (IPO) is a rare and poorly understood manifestation of systemic lupus erythematosus (SLE), especially in children. The characteristic clinical feature of IPO is obstruction without an identifiable obstructive lesion. The authors a 13-year-old girl whose first symptom of SLE was IPO. The patient presented with a 3-day history of nausea, bilious vomiting, abdominal distention, and no bowel movement. Simple abdominal radiographs revealed mild dilatation with partial air-fluid levels in the small intestine. Abdominal CT and methylcellulose small bowel studies showed massive ascites, engorgement of the small mesenteric vessels, pleural effusion, and diffuse bowel wall thickening of the gastric antrum, duodenum. and jejunum. The delayed passage of contrast for 15 days after the methylcellulose small bowel studies was suggestive of decreased bowel motility. Laboratory findings were positive for ANA, anti-double-stranded DNA, anti-Smith and lymphopenia. After 10-day treatment with high-dose corticosteroids, the symptoms improved. IPO associated with SLE should be considered in the differential diagnosis for patients presenting with symptoms of intestinal obstruction. Early recognition of IPO in SLE and appropriate therapy are important for prevention of complications and unnecessary surgery. This case raises awareness among pediatricians that although rare, IPO can be the presenting symptom of SLE in children.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.19 no.1
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• pp.44-53
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• 2016

Purpose: Parenteral nutrition (PN) not only provides nutritional support but also plays a crucial role in the treatment of children with intestinal failure. The aim of this study was to evaluate the clinical significance and clinical outcomes of long-term PN. Methods: Retrospective cohort study was conducted using the medical records of patients treated at Seoul National University Children's Hospital. This study included 19 patients who received PN for over six months. Most patients received home PN. Results: The indications for PN included short bowel syndrome, chronic intestinal pseudo-obstruction, and intractable diarrhea of infancy. The median age of PN initiation was 1.3 years, and the median treatment duration was 2.9 years. Two patients were weaned from PN; 14 continued to receive PN with enteral feedings; and 3 patients died. The overall survival rates at 2 and 5 years were 93.3% and 84.0%, respectively. The incidence of catheter-related bloodstream infections was 2.7/1,000 catheter-days and was associated with younger age at PN initiation and lower initial height Z-score. Six patients developed catheter-related central vein thrombosis, with an incidence of 0.25/1,000 catheter-days. Eleven patients experienced PN-associated liver disease (PNALD), and one patient underwent multi-visceral transplant. The patients with PNALD exhibited lower final heights and body weight Z-scores. All patients experienced micronutrient deficiencies transiently while receiving PN. Conclusion: PN is an important and safe treatment for pediatric intestinal failure. PNALD was linked to final anthropometric poor outcomes. Micronutrient deficiencies were common. Anthropometric measurements and micronutrient levels must be monitored for successful PN completion.