Baby X, male neonate born to 3rd degree consanguineous parents at 33+3 weeks gestational age, low birth weight (1915gms) presented with respiratory distress to our unit. On examination, the baby had tachypnoea and mild retractions with Silverman’s score of 3/10. Chest X-ray was s/o transient tachypnoea of newborn and baby did not require surfactant. Nasal CPAP was started and was weaned off within 24 hours of life.
The Neonate had white forelock of hair and hypo-pigmentation of skin over the face and upper chest and did not pass meconium for more than 48 hours. Antenatal history revealed that the 1st baby died at 1 month of life with similar presentation and underwent multiple intestinal surgeries for suspected Hirschsprung’s disease.
RR – At admission : 75/min, intercostal retractions present, settled with CPAP within 24 hours
HR – 150/min
BP – 62/44
MAP - 47 mm Hg
CFT – 2 seconds
SpO2 – 99% on 30% fio2
Head to Toe examination of the neonate revealed:
Hair – White forelock
Eye lashes – White
Lanugo hair – White
Skin - Hypo pigmented over the face & upper chest
Anal opening – Patent
RS – Bilateral air entry equal
CVS – S1, S2 heard, no murmur
Abdomen – Soft, no organomegaly
CNS – Cry/tone /activity : Normal
Day 2 of life: We initiated enteral feeds with preterm formula, as mother's milk was not available via OG (Orogastric) tube at 20 ml/kg/day but withheld after 6 feeds in view of feed intolerance in the form of vomiting. Total parenteral nutrition (TPN) was initiated.
The neonate was further investigated with X-ray abdomen and lower GI contrast study following consultation with pediatric surgeon. X ray abdomen showed no rectal gas shadow. Lower GI contrast study showed normal caliber colon with no definite transition zone. Baby did not pass stool for 96 hours of life with bilious aspirates, in view of which X ray abdomen was done which showed persisting contrast in the Lower GI tract.
Lower GI contrast study
Possibility of Hirschsprung’s disease was considered. In view of the clinical phenotypic appearance suggestive of Waardenburg Syndrome type 4, a high index of suspicion was kept for total colonic aganglionosis.
Day 5 of life: Baby was taken for laparotomy with intraoperative findings of massive dilatation of ileal loops and ileal perforation. Biopsies from ileum, appendix, transverse colon and rectum were taken and it turned out to be total colonic aganglionosis (Hirschsprung’s disease). Perforated segment was resected and bishop koop Ileostomy was done.
Post-Surgery we re-initiated TPN. On Postop day 4, stoma started functioning. We started with Orogastric feeds (minimal enteral nutrition) on day 5 postop with breast feeds and preterm formula (due to inadequate mother's milk). Oral feeds were initiated on day 7 postop with full feeding from postop day 9.
Day 17 of life i.e. day 13 postop, the neonate developed decreased activity and weight loss. Baby had increased Ileostomy losses (> 50 gm/kg/day) resulting in dehydration with lethargy and poor feeding, hence we suspected short bowel syndrome.
Day 18 of life i.e. postop day 14, baby weighed 1680 g and we initiated amino acid formula (AAF). It was started at 20 ml/kg/day and advanced at 20 ml/kg/day ensuring that stoma output never crossed 20 g/kg/day.
Next 7 days: The neonate reached full feeds (150 ml/kg/day), an amino acid based formula. During the course of time with AAF, Ileostomy losses decreased and feed intolerance settled.
Day 28 of life: Baby started to gain weight and was discharged on full AAF feeds at the weight of 2350 g.
Day 35 of life: Baby was followed up on and had weight gain of 20 g/day during this period.
The presented case is of Type 4 Shah – Waardenburg syndrome (SWS) which is an autosomal recessive condition, characterized by pigmentary abnormalities of hair, skin, eyes and Hirschsprung’s disease. The genetic evaluation of neonate came positive for EDN3 gene mutation in homozygous state. Post Ileostomy, this neonate developed short bowel syndrome.
Short bowel syndrome (SBS) is a malabsorptive state occurring as a result of surgical resection of significant portion of small intestine. With the use of parenteral nutrition (PN), optimal nutrition can be achieved but parenteral nutrition is associated with cholestasis and fibrosis (PN- induced liver disease) which frequently results from its long term use (Bentley D et al, 2002).
Problems associated with SBS include excessive fluid and electrolyte losses, inability to absorb adequate energy and macronutrients (protein, carbohydrates, and/or fats), inability to absorb necessary vitamins and minerals and poor weight gain and growth failure. Nutritional management of SBS includes, early introduction of enteral feeds, advanced carefully but persistently, as rapidly as tolerated by the patient. Below flowchart describes in detail the feeding options and feed progression in SBS (Brenn et al, 2013).
^ Assess tolerance every one or two hourly. Feeds should be advanced not more than once in each 24 hour period.
# To withhold feeds, stop feeds for 8 hrs, then restart at 75% of the previous.
Contraindications include: Ileus, clinical suspicion of obstruction, bloody stools or stoma output, intestinal ischemia; shock/poor perfusion due to cardiac or respiratory insufficiency; bilious and/or persistent vomiting (>3 episodes in 12 hours)
Adapted from: Brenn M, Gura K, Duggan C. Intestinal failure. In: Manual of Pediatric Nutrition, 5th ed, Sonneville K, Duggan C (Eds), People’s Medical Publishing House, Shelton, CT 2013.
Fenton R Tanis, Kim H Jae. A systematic review and meta-analysis to review the Fenton growth chart for preterm infants. BMC Pediatrics 2013
Fenton growth chart sourced from https://www.ucalgary.ca/fenton/2013chart. Accessed on 24.01.2019.
In SBS, breast milk remains superior choice for enteral feed because it contains immune-enhancing properties, beneficial bacteria and growth factors (Parrish CR, 2003). If breast milk is not available, AAF can be the initial enteral feeding for SBS infants (Greef De E, 2010). Studies have shown that feeding an AAF improved tolerance and reduced reliance on parenteral nutrition in children with SBS (Bines J et al. 1998, Andorsky DJ et al 2001).
Elemental diets are often used over diets containing intact protein as these infants seem to tolerate elemental diet better. The reason may be that infants have “leaky gut” favoring sensitization to Cow’s milk or Soy protein (Serrano MS & Sommerfeld ES, 2002). Infants with SBS have increased epithelial permeability to food antigen due to possible bacterial overgrowth, poor motility or a dilated gut and are likely to develop an allergic response to protein in the formula.
Hypoallergic formula is therefore preferred to reduce the risk of an allergic reaction in these infants (SBS Clinical Guide, 2009). In the present case study we observed improved feed tolerance, weight gain and decreased ileostomy loss with AAF.
Neonates with short bowel syndrome are predisposed to micronutrient deficiencies, particularly involving fat soluble vitamins, such as, vitamin A, D, E and K since steatorrhea is a common complication of SBS. Water soluble vitamin deficiencies are less likely to occur, except vitamin B12 if the whole or > 60% of the terminal ileum has been resected and folate if the proximal jejunum has been resected.
Supplementation is recommended at the dose of:
- Vitamin A: 5000-25,000 IU/day orally
- Vitamin D: 400-1200 IU/day orally; 1,25 dihydroxy
- Vitamin D3 (0.05-0.2 g/kg/day) is recommended in the presence of significant bone changes or patients having severe cholestasis
- Vitamin E: 50-400 IU/day
- Vitamin K: 2-5 mg IM weekly
Also recommended are supplementing calcium at 100 mg/kg/day and phosphorous at 50 mg/kg/day.
In view of total colonic aganglionosis, the index neonate is likely to have short bowel syndrome almost lifelong. Long term prognosis in these cases is guarded and needs multi-disciplinary coordination of pediatric surgeons, gastroenterologists and nutritionists.
Nutritional therapy in SBS should help in intestinal adaptation and maintaining nutritional stability. This case illustrates the importance of appropriate nutritional management of SBS to ensure normal growth.