Multiple sulfatase deficiency in a neonate
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Clinical report

The girl is the first child of healthy, non-consanguineous parents. She was born by vaginal delivery at week 40 with birth weight of 2,815 g, length 46 cm, and head circumference 32 cm. APGAR scores were 9/10. At 20 hours of life she was transferred to our Neonatal Intensive Unit because of the appearance of rolling eyes followed by episodes of apnoea with cyanosis and hypotonia, for which a treatment with phenobarbital was installed. At that time, physical examination showed coarse facial features, high-arched, thick eyebrows, bulbous nasal tip, micrognathia, posteriorly rotated ears with attached lobes, flared thorax, inverted nipples, hepatosplenomegaly, broad thumbs, mild ichthyosis and muscular hypotonia. At 11 days of life she presented two episodes of obstructive respiratory arrest after stridor, treated with ventilation. The otolaryngologist’s evaluation revealed the presence of a cystic formation of the vallecula, which was removed surgically with resolution of the episodes of apnoea....

https://ijponline.biomedcentral.com/articles/10.1186/s13052-014-0086-2
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