Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

Abstract Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 months of life with immunomodulatory therapy in the ERT-naïve setting, with a high ERT dose from the beginning. Despite the overall good evolution, the patient who initiated treatment <1 month of life presented even better outcomes than the patient who started treatment <3 months of life, with an earlier normalization of hypertrophic cardiomyopathy, along with CK normalization, highlighting the importance of early treatment initiation in this progressive disease before irreversible muscle damage has occurred.This work was partially funded by the Basque Department of Education (IT1281-19)

Differences in thyroid function between small for gestational age and those with appropriate weight for gestational age. Is thyroid function normal in small for gestational age newborns?

[EN]INTRODUCTION: Several studies conclude that small for gestational age (SGA) children have a higher number of comorbidities, as well as a different hormonal profile compared to those with appropriate weight for gestational age (AGA). Thyroid hormones play an important role in growth and neurocognitive development. Thyroid function in SGA children is still not completely known. OBJECTIVES: To compare the thyroid function of SGA children during the first 2 years of life with that in publications on thyroid function in other groups of infants, such as AGA and premature children, using the same methodology. METHODS: A cohort of 38 SGA children was obtained, in which the thyrotropin (TSH) values in blood were measured at different points in the development of the SGA child. The results were compared with a population of AGA children from Zaragoza and a population of premature children from Barcelona by comparing the means using a 2-tailed test. RESULTS: A statistically significant difference (P < 0.05) was observed between the SGA children in our study and the AGA children older than 6 months, but not between the SGA children of the study and the population of premature infants. CONCLUSIONS: SGA children have higher TSH values compared to AGA children older than 6 months. Therefore, it seems reasonable to establish a screening and a follow-up protocol in those SGA with high risk to develop thyroid dysfunction.The study was funded by a global medical grant from Pfizer, awarded in 2012