Journal of neonatal-perinatal medicine · 2020
Biotinidase deficiency in a newborn.
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El Moussaoui S, Bennaoui F, El Idrissi Slitine N, Houcar O, Maoulainine F M R
Аннотация
INTRODUCTION: Biotinidase deficiency is an inherited disorder of biotin metabolism that is untreated may present within the first few month of life.
OBJECTIVE: We report the exceptional observation of a biotinidase deficiency in Morocco. The rarity of this pathology, its age of onset, its mode of revelation and the lack of treatment in Morocco make the particularity of this observation.
OBSERVATION: A newborn child born from a 24-year-old mother, followed by an estimated pregnancy of 37 weeks of amenorrhea according to the Farr score (morphological maturation score used for the dating of the pregnancy term). The infant presented at 7 days of life with a cutaneous-mucous eruption with icithiosic dry erythroderma of interest to the trunk, the face, the scalp associated with alopecia and depilation of the eyebrow. The biotinoidase deficiency was confirmed by its low serum concentration at 49 nka / l. The newborn died at 20 days of life before starting the specific treatment.
CONCLUSION: Biotinidase deficiency is a rare condition requiring early screening and rapid management. The delay in diagnosis and the unavailability of treatment in Morocco can have fatal consequences.
OBJECTIVE: We report the exceptional observation of a biotinidase deficiency in Morocco. The rarity of this pathology, its age of onset, its mode of revelation and the lack of treatment in Morocco make the particularity of this observation.
OBSERVATION: A newborn child born from a 24-year-old mother, followed by an estimated pregnancy of 37 weeks of amenorrhea according to the Farr score (morphological maturation score used for the dating of the pregnancy term). The infant presented at 7 days of life with a cutaneous-mucous eruption with icithiosic dry erythroderma of interest to the trunk, the face, the scalp associated with alopecia and depilation of the eyebrow. The biotinoidase deficiency was confirmed by its low serum concentration at 49 nka / l. The newborn died at 20 days of life before starting the specific treatment.
CONCLUSION: Biotinidase deficiency is a rare condition requiring early screening and rapid management. The delay in diagnosis and the unavailability of treatment in Morocco can have fatal consequences.