Inborn Errors Of Metabolism In Neonatal Period: A Challenging Management In Tunisia

Inborn Errors Of Metabolism In Neonatal Period: A Challenging Management In Tunisia

Chioukh F Z; Chaabane A; Khemis T; Jlassi A; Kaabachi N; Monastiri K

Tunisie Medicale

2019

hereditary metabolic diseases; newborn; rare diseases; resuscitation

OBJECTIVE: To assess clinical presentation of inborn errors of metabolism in neonatal period and to identify challenges in their management. METHODS: This is a retrospective study carried out in the department of Intensive Care and Neonatal Medicine of Monastir in Tunisia from January the 1st 2010 until December the 31st 2017. All hospitalized newborns with life-distress related to confirmed or suspected IEM were included. RESULTS: We identified thirty-two IEM with an incidence of 1/1630. Sixty five per cent were born to consanguineous parents. Symptoms were already present at birth in 31% of cases and after a symptom-free interval in 69% of cases. The most common presenting manifestations were neurological distress (72%). We confirmed the specific diagnosis for 26 patients, but 6 patients had unidentified IEMs because of difficulties to perform certain analyzes. The diagnosis was confirmed after death in 16% of cases. The most important measures used to manage the intoxication were removal of toxic products and vitamin therapy. The neonatal death rate was 72%. CONCLUSION: The results illustrate challenges encountered in disease management highlighting the importance of prenatal diagnosis and newborn screening for inherited metabolic disorders, which is not yet available in our country.

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