Infectious manifestations during neuro-gastrointestinal mitochondrial encephalopathy: about 2 patients

Lachiheb Nabil; Bartegi Ines; Bougharriou Ichrak; Salma Ben Hmida; Faten Hadj Kacem; Mnif Mouna; Abid Mohamed

doi:10.1530/endoabs.90.EP808

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Endocrine Abstracts (2023) 90 EP808 | DOI: 10.1530/endoabs.90.EP808

ECE2023 Eposter Presentations Pituitary and Neuroendocrinology (234 abstracts)

Infectious manifestations during neuro-gastrointestinal mitochondrial encephalopathy: about 2 patients

Lachiheb Nabil , Bartegi Ines , Bougharriou Ichrak , Ben Hmida Salma , Hadj Kacem Faten ² , Mnif Mouna ² & Abid Mohamed ²

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¹Hedi Chaker-Department Of Infectious Deseases, Sfax, Tunisia; ²Hedi Chaker-Department Of Endocrinology, Sfax, Tunisia

Introduction: Mitochondrial neuro-gastro-intestinal encephalopathy (MNGIE) is a rare autosomal recessive disease caused by a mutation in the TYMP gene.

Patients-methods: Retrospective study including 2 cases (brother and sister) followed for MNGIE confirmed by genetic study at the endocrinology department of Sfax.

Results: -> 1st case: 25-year-old man, follow-up for diabetes, dilated cardiomyopathy, renal lithiasis, MNGIE.

He presented :

• A cerebral abscess treated by surgery, without bacteriological documentation at the age of 19,

• Recurrent severe oral candidiasis due to Candida albicans

• Documented parenteral feeding catheter sepsis due to Staphylococcus lugdunensis

• Sequelae of ocular toxoplasmosis

-> 2nd case: 22-year-old woman followed for functional anterior pituitary insufficiency. She presented with recurrent oral candidiasis due to Candida albicans, died of digestive complications

Discussion: The prevalence of infections during MNGIE is 7.9% but no particular association candidiasis and MNGIE For our patients, the acquired immune deficiencies have been eliminated (negative HIV serology and tuberculosis investigation), the dosage of immunoglobulins could not be carried out

Conclusion: The prognosis of MNGIE is severe and linked to the severity of the digestive attack with the occurrence of infections and the use of permanent parenteral nutrition.