הכינוס השנתי של החברה הישראלית לפדיאטריה קלינית - חיפ"ק 2020

Maternal Orthorexia masquerading as Inborn Errors of Metabolism

Said Abozaid 1 Mary Abdo 1 Galit Tal 2 Mariam Daher 1 Noa Mandel-Shorer 3 Elana Dumin 4 Wael Nasser 1 Hanna Mandel 1,4
1Pediatric Department, Baruch Padeh Poriya Affiliated to the Faculty of Medicine in the Galilee Bar-Ilan University, ישראל
2Metabolic Unit, Rambam Health Care Center, ישראל
3Hematology-Oncology Division, Rambam Health Care Center, ישראל
4Department of Genetics, Western Galilee Medical Center, ישראל

Introduction: Orthorexia Nervosa (ON) is an eating disorder describing patients with obsession for healthy food, in contrast to patients with anorexia and bulimia who worry about its quantity. ON may cause a state of starvation due to strict diets and shortage of essential nutrients leading to medical complications. We report cases of babies with episodes of apathy and severe ketoacidosis mimicking Inborn Errors of Metabolism (IEM). Maternal nutritional history led us to suspect Maternal ON causing those critical conditions.

Case1 report: A 17-months-old baby presented with few days history of lethargy and refusal to eat after weaning breastfeeding. He had been mainly breastfed and rarely consumed solid food. A detailed dietary history revealed that the mother ate only vegan diet during nursing and provided her baby a strict "vegan, healthy uncooked diet omitting animal products and formulas". He was lethargic, pale, tachypneic, hypotonic with hyperrexflexia. Growth centiles were below 3rd percentile. Developmental delay was noticed. Laboratory studies revealed pancytopenia, severe ketoacidosis and Methylmalonic Aciduria. Clinical and biochemical features suggested IEM. Slow refeeding program including multiple vitamins and vitamin-B12 resulted in resolution of metabolic abnormalities. (Table1 summarize similar cases).

Conclusion: We describe ON in mothers causing life-threatening disorder in their babies. We designate this condition as "Maternal ON" similar to the notion of "Maternal phenylketonuria" (PKU) wherein high phenylalanine levels in PKU mother who does not keep restricted diet, harms her offspring. Pediatricians should be aware to Maternal ON mimicking IEM presenting as growth and development delay with severe metabolic abnormalities.









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