ABSTRACT
RESUMEN La gangliosidosis GM1 es un trastorno lisosomal caracterizada por la acumulación de gangliósido GM1 (glucoesfingolípido) en el sistema nervioso central (SNC) y visceral, debido a la deficiencia de la enzima beta-galactosidase (hidrolasa lisosomal). Afecta principalmente al SNC y las vísceras y produce importantes anomalías esqueléticas, que a menudo ocurren con la presencia de linfocitos vacuolados en la muestra de la sangre periférica o médula ósea. Tiene tres formas de presentación, lo que dificulta aún más su identificación debido al amplio espectro clínico. El presente estudio tiene como objetivo describir un caso de gangliosidosis GM1 en un paciente masculino, nacido a las 38 semanas. Hasta el momento, no existe un tratamiento efectivo para la gangliosidosis GM1, es decir, el portador de la enfermedad solo recibe medidas sintomáticas y paliativas. Por tanto, el diagnóstico precoz de la enfermedad es de suma importancia, ya que su única forma de prevención, actualmente, es a través del consejo genético.
ABSTRACT
OBJECTIVE: To compare Doppler ultrasonographic measurements of the fetal middle cerebral artery peak systolic velocity (MCA PSV) among women with or without gestational diabetes mellitus (GDM). METHODS: A cross-sectional study was conducted among pregnant women who presented for prenatal care at a single hospital in Brazil between September 11, 2015, and January 6, 2017. Patients were stratified into a group with GDM and a control group without GDM. One Doppler ultrasonographic assessment was performed per participant. This measurement was made after diagnosis but before the start of treatment among women in the GDM group. Fetal ultrasonographic and biometric variables assessed included MCA PSV, MCA pulsatility index, umbilical artery pulsatility index, the MCA-to-umbilical artery ratio, abdominal circumference, and weight. RESULTS: The study included 238 women: 115 in the GDM group and 123 in the control group. The median MCA PSV was 1.02 in the GDM group and 1.08 in the control group (P=0.036). No statistically significant between-group differences were found for the other fetal ultrasonographic variables or for the fetal biometric variables assessed. None of the maternal or fetal parameters assessed displayed a linear correlation with MCA PSV. CONCLUSION: Doppler ultrasonographic measurements of MCA PSV were lowered among the fetuses of women diagnosed with GDM.
