Long-Term Outcome of Children with Short Bowel Syndrome Treated with a Modification of the STEP Technique Avoiding Mesenteric Defect.

BACKGROUND: The Serial Transverse Enteroplasty Procedure (STEP) Registry has reported a 47% success to achieve enteral autonomy in pediatric short bowel syndrome (SBS). We have performed the STEP with a technical modification (MSTEP) consisting in stapler application without mesenteric defects that can also be applied to the duodenum. Our experience with this technique is described. MATERIALS AND METHODS: In this study, 16 children with SBS underwent MSTEP (2005-2019). Indications were nutritional autonomy achievement (n = 11, with duodenal lengthening in 5/11) and bacterial overgrowth treatment (n = 5). RESULTS: With a median follow-up of 5.8 years (0.7-13.7 years), 5 of 11 (45%) patients achieved enteral autonomy, 4 of them with duodenal lengthening. Four of four who preserved > 50% colon, while only one of seven with < 50% of colon achieved enteral autonomy (p < 0.05). After redo procedures, three of four attained enteral autonomy. Thus, 8 of 11 (73%) progressed to enteral autonomy, including all with duodenal lengthening. One child, already parenteral nutrition free, died due to central line sepsis. All the patients from the bacterial translocation group improved their metabolic/nutritional status, but one required subsequent enterectomy of the lengthened intestine due to multiple ulcers in the staple lines. CONCLUSION: The effectiveness of MSTEP to achieve enteral autonomy seems similar to the classical STEP. It can be applied to the duodenum. The retained colon length may influence the post-STEP enteral autonomy achievement.

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.

BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene. CASE PRESENTATION: A 6 year old girl presented during the first year of life with severe renal Fanconi as the first manifestation of ARC-Syndrome. This case presents all defining features of ARC syndrome (including liver, skin and articular manifestations) with predominantly renal impairment at presentation. This novel mutation may be associated with a pronounced renal phenotype in ARC. Furthermore, we report on the successful use of LDL-Apheresis and biliodigestive derivation for treatment of cholestatic pruritus with encouraging results. CONCLUSION: ARC is a heterogeneous disorder with early mortality. This case report contributes to a better understanding of this rare disorder, describes a novel mutation in the VPS33B gene and presents an innovative rescue treatment approach.

Duodenal lengthening in an adult with ultra-short bowel syndrome. A case report

Background: We have recently demonstrated the feasibility of lengthening the duodenum in children with short bowel syndrome and a dilated duodenum. This procedure gains additional intestinal length in a challenging area of autologous gut reconstruction. Herein, we report the successful application of this technique in an adult with ultra-short bowel syndrome. Case report: A 25-year-old man with a history of mid-gut volvulus was referred to our center for intestinal transplant evaluation. Only a megaduodenum stump that reached as far as the third portion (30 cm of length) and the colon up to the hepatic flexure in the form of a mucous fistula was retained. A gastrostomy tube drained gastric and bilio- pancreatic secretions (output range: 2.5-4 liters/day). The time spent on parenteral nutrition (3 liters/day; 1500 calories/day) and I.V. fluid (1.5-2 liters/day) administration was 24 hours per day. The patient underwent duodenal lengthening and tapering with 7 sequential transverse applications (5 of 45 mm and 2 of 60 mm) of an endoscopic stapler on the anterior and posterior walls of the duodenum, respecting the pancreatic parenchyma and end-to-side duodeno-colonic anastomosis. The final duodenal length was 83 cm. The pre-lengthening citrulline level increased from 13.6 micromol/L to 21.6 micromol/L one year post-lengthening. After 24 month of follow-up, the time on a parenteral pump was shortened to 9 hours during the night. The volume and calorie requirements were also reduced by half. Discussion: Duodenal lengthening may be effective as part of the autologous intestinal reconstruction armamentarium in adults with short bowel syndrome (AU)

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Duodenal lengthening in an adult with ultra-short bowel syndrome. A case report.

BACKGROUND: We have recently demonstrated the feasibility of lengthening the duodenum in children with short bowel syndrome and a dilated duodenum. This procedure gains additional intestinal length in a challenging area of autologous gut reconstruction. Herein, we report the successful application of this technique in an adult with ultra-short bowel syndrome. CASE REPORT: A 25-year-old man with a history of mid-gut volvulus was referred to our center for intestinal transplant evaluation. Only a megaduodenum stump that reached as far as the third portion (30 cm of length) and the colon up to the hepatic flexure in the form of a mucous fistula was retained. A gastrostomy tube drained gastric and bilio-pancreatic secretions (output range: 2.5-4 liters/day). The time spent on parenteral nutrition (3 liters/day; 1500 calories/day) and I.V. fluid (1.5-2 liters/day) administration was 24 hours per day. The patient underwent duodenal lengthening and tapering with 7 sequential transverse applications (5 of 45 mm and 2 of 60 mm) of an endoscopic stapler on the anterior and posterior walls of the duodenum, respecting the pancreatic parenchyma and end-to-side duodeno-colonic anastomosis. The final duodenal length was 83 cm. The pre-lengthening citrulline level increased from 13.6 micromol/L to 21.6 micromol/L one year post-lengthening. After 24 month of follow-up, the time on a parenteral pump was shortened to 9 hours during the night. The volume and calorie requirements were also reduced by half. DISCUSSION: Duodenal lengthening may be effective as part of the autologous intestinal reconstruction armamentarium in adults with short bowel syndrome.

Duodenal lengthening in short bowel with dilated duodenum.

UNLABELLED: Although duodenal dilatation occurs in children with short bowel syndrome (SBS) facilitating dismotility and bacterial overgrowth, the duodenum has been an untouchable intestinal segment for lengthening procedures owing to its close relationship with bilio-pancreatic structures and blood supply shared with the pancreas. Three children (age range, 0.5-7 years) with SBS and dilated duodenum underwent a novel surgical procedure of duodenal lengthening combined with a technical modification of serial transverse enteroplasty (STEP). Pre-STEP, jejunum length was 5, 35 and 45cm, respectively. Duodenal lengthening was performed with sequential transverse applications of an endoscopic stapler on the anterior and posterior wall of the duodenum to avoid bilio-pancreatic structure injury. Two patients underwent 3 duodenal firings (stapler of 35mm) and the third 5 firings (stapler of 45mm). Duodenal firings were 17%, 21% and 83% of the total firings. RESULTS: No surgical complications occurred. One patient developed transient episodes of D-lactic acidosis. Two patients (5 and 45cm) were weaned off parenteral nutrition at 12months post-surgery and the remaining patient´s (35cm) parenteral calorie requirements have decreased by 60%. CONCLUSION: Duodenal lengthening is effective since it tailors and increases the absorptive surface of the duodenum, even in cases of extreme SBS.

Modification of stool's water content in constipated infants: management with an adapted infant formula.

BACKGROUND: Constipation is a common occurrence in formula-fed infants. The aim of this preliminary study was to evaluate the impact of a formula with high levels of lactose and magnesium, in compliance with the official regulations, on stool water content, as well as a parental assessment of constipation. MATERIALS AND METHODS: Thirty healthy term-born, formula-fed infants, aged 4-10 weeks, with functional constipation were included. All infants were full-term and fed standard formula. Exclusion criteria were preterm and/or low birth weight, organic constipation, being breast fed or fed a formula specially designed to treat constipation. Stool composition was measured by near-infrared reflectance analysis (NIRA) and parents answered questions about crying associated with defecation and stool consistency at baseline and after two weeks of the adapted formula. RESULTS: After 2 weeks of the adapted formula, stool water content increased from 71 +/- 8.1% to 84 +/- 5.9%, (p < 0.02). There was no significant change in the stool's fat, protein or carbohydrate content. Parental impressions of constipation were improved with the decrease in stool hardness (100% with hard stools at baseline, 10% after 2 weeks), pain with defecation (90% at baseline, 10% after 2 weeks), and the requirement for rectal stimulation to achieve defecation (70% at baseline, 30% after 2 weeks, p < 0.001 for all three indicators). CONCLUSIONS: This preliminary study suggests that an adapted formula with high levels of lactose and magnesium increases stool water content and improves symptoms of constipation in term-born, formula-fed infants. A larger randomized placebo-controlled trial is indicated.

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

We report two monochorionic twins that progressively developed, between ages 5 and 10, a combination of episodic neurological disorders including paroxysmal exercise-induced dyskinesia, migraine without or with aura, absence seizures and writer's cramp. CSF/serum glucose ratio was moderately decreased in both patients. Mutational analysis of SLC2A1 gene identified a de novo heterozygous missense mutation in exon 4. This novel mutation has been previously showed to disrupt glucose transport in vitro. Both patients showed immediate and near-complete response to ketogenic diet. This clinical observation suggests that a high index of suspicion for GLUT1 deficiency syndrome is warranted in evaluating patients with multiple neurological paroxysmal events.

Nen de 3 anys amb síndrome de Down i episodis recurrents de pneumònia associada amb anèmia / Three-year-old boy with Down syndrome and recurrent episodes of pneumonia and anemia

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