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Participant 166

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Male, age 5, with multiple bowel atresias prior to birth (meconium peritonitis), blocked bile ducts (biliary atresia), stroke, hypertension, hypoglycemia, pancreatic insufficiency, hypotonia and global developmental delay

Date of Report

Jul 08, 2020


Prenatally the participant was diagnosed with dilated loops of his bowel with a diffusely thickened wall. Prenatal testing for infections (toxoplasmosis, cytomegalovirus) and cystic fibrosis was negative. During the first week of his life, the participant underwent surgery (exploratory laparotomy) to examine his organs and he was found to have a meconium pseudocyst and hole in his bowel (bowel perforation) as well as an atresia in the terminal ilium.  He proceeded to undergo a partial resection of his small bowel and large bowel. At 1 month, he was diagnosed with blocked bile ducts (biliary atresia) after having pale (acholic) stools and high bilirubin levels (hyperbilirubinemia). He underwent a Kasai procedure to correct this. At 3 months, he underwent another exploratory laparotomy with lysis of adhesions.  At 7 months he underwent another exploratory laparotomy with a revision of his Kasai procedure.

At age 1 and 10 months the participant suffered from an ischemic  stroke. The cause of his stroke has not been identified. At age 2, he was diagnosed with hypertension. At age 2.5, he underwent a liver transplant.  At age 3 he was diagnosed with hypoglycemia and fatty liver. At age 4 he was diagnosed with pancreatic insufficiency.

Symptoms / Signs
  • Global developmental delay
  • Bowel rupture prior to birth (meconium peritonitis)
  • Blocked bile ducts (biliary atresia)
  • Intestinal obstruction
  • Hole in bowel (bowel perforation)
  • Pale stools (acholic stools)
  • Stroke
  • Softening or loss of brain tissue after brain injury (encephalomalacia)
  • Low muscle tone (generalized hypotonia)
  • Heart rhythm abnormality (prolonged QT interval)
  • High blood pressure (hypertension)
  • Lungs restricted from fully expanding (restrictive ventilatory defect)
  • Obstructive sleep apnea
  • Restrictive lung disease
  • Tight foreskin (phimosis)
  • Low magnesium levels in blood (hypomagnesemia)
  • Enlarged tonsils
  • Bile acid malabsorption
  • Hypoglycemia
  • Pancreatic insufficiency
  • Post-transplant lymphoproliferative disease
  • OPA1 genetic disorder
Current Treatments
  • Amlodipine- hypertension
  • Bactrim – infection risk
  • Tacrolimus, serolimus , prednisilone, valganciclovir- liver transplant
  • Ursodiol- liver disorder
  • Ranitidine- reflux
  • Zen pep – pancreatic insufficiency
  • Albuterol – restricted lung disease
  • Coenzyme Q10, alphalipoic acid, riboflavin, levocarnatine – mitochondrial disorder (OPA1)
  • Vitamins A and D and cholestyramine- fat malabsorption and vitamin deficiency
Prior Treatments
  • Kasai procedure, liver transplant- biliary atresia
  • Small bowel resection- bowel perforation
Considered treatments
Previously Considered Diagnoses
  • Alagille syndrome
  • Alpha-1 antitrypsin deficiency
  • Cystic fibrosis
  • Cytomegalovirus
  • Microdeletion/duplication disorder
  • Niemann-Pick disease type C
  • Single gene disorder
  • Toxoplasmosis
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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