Thiamine Deficiency in a Child with Short Bowel Syndrome and Review

Abstract

Thiamine (vitamin B1) is a water-soluble vitamin that is not endogenously synthesized in humans. It is absorbed by the small intestine, where it is activated. Its active form acts as a coenzyme in many energy pathways. We report a rare case of thiamine deficiency in a 3.5-year old boy with short bowel syndrome secondary to extensive bowel resection due to necrotizing enterocolitis during his neonatal age. The patient was parenteral nutrition-dependent since birth and had suffered from recurrent central catheter-related bloodstream infections. He developed confusion with disorientation and unsteady gait as well as profound strabismus due to bilateral paresis of the abductor muscle. Based on these and a very low thiamine level he was diagnosed and treated for Wernicke encephalopathy due to incomplete thiamine acquisition despite adequate administration. He fully recovered after thiamine administration. After 1999 eight more cases have been reported in the PubMed mostly of iatrogenic origin.

Pediatric thiamine deficiency disorders in high‐income countries between 2000 and 2020: a clinical reappraisal

“… C7 : PTD related to gastrointestinal disorders with reduced thiamine absorption (2%). This encompasses a wide panel of clinical conditions from intestinal resection (short bowel syndrome) to inflammatory bowel disease in children 85–91 C8 : PTD related to pediatric malignancies (such as leukemia and neuroblastoma) constantly associated with hyperlactatemia and patients undergoing bone marrow transplant (7%) 92–107 .…”

“…This encompasses a wide panel of clinical conditions from intestinal resection (short bowel syndrome) to inflammatory bowel disease in children. 85 , 86 , 87 , 88 , 89 , 90 , 91 C8 : PTD related to pediatric malignancies (such as leukemia and neuroblastoma) constantly associated with hyperlactatemia and patients undergoing bone marrow transplant (7%). 92 , 93 , 94 , 95 , 96 , 97 , 98 , 99 , 100 , 101 , 102 , 103 , 104 , 105 , 106 , 107 Of note, three cases of drug‐induced TD (namely, methotrexate and metronidazole) have been included in this review.…”

“…This encompasses a wide panel of clinical conditions from intestinal resection (short bowel syndrome) to inflammatory bowel disease in children. 85 , 86 , 87 , 88 , 89 , 90 , 91 …”

Providing the Best Parenteral Nutrition before and after Surgery for NEC: Macro and Micronutrients Intakes

“…Therefore, parenteral supplementation is essential in this cohort of patients and the current recommendation avoids deficiency [ 21 ]. Thiamine and folate are two other water-soluble vitamins at risk for deficiency in patients on long-term PN secondary to intestinal surgery, even though available studies do not focus on a post-surgery phase of NEC [ 128 ].…”

An Unusual Case of Thiamine Deficiency in a Total Parenteral Nutrition-Dependent Child Secondary to Munchausen by Proxy

“…Factitious disorder imposed on another, or Munchausen by proxy (MSP), is the fabrication of symptoms by a caregiver imposed on another to promote medical interventions for self-fulfillment ( 1 ). Thiamine deficiency (TD) in total parenteral nutrition (TPN)-dependent children has only been seen in the United States during intravenous multivitamin infusion (MVI) shortages ( 2 ), outside of the United States where MVIs were not administered with TPN ( 3 ), and unintentional human error corrected with caregiver reeducation ( 4 , 5 ). We present the first known case of TD in a TPN-dependent child as evidence for MSP.…”