Outcome and follow-up
Figure 3 illustrates weight, height and body mass index (BMI) during follow-up. During the follow-up period, the patient was diagnosed with levocardia in situs solitus and mild aortic, mitral and tricuspid regurgitation. Since the time of diagnosis, progression of the cardiac compromise has been stable and slow to this date. Additionally, the patient has shown improvement in speech, motor skills, snoring and physical endurance, enabling him to continue in school, with adequate socialization.
GAG measurements in urine are within the expected range in accordance with the type and course of the disease under treatment. Values have remained stable between 10.51 and 10.7 mg GAG/mmol/cr, slightly elevated when compared to the normal population by age (0.36 – 6.36 mg GAG/mmol/cr).
No progression has been found in pulmonary function tests, or increase in hepatomegaly or splenomegaly during follow-up. The patient does not complain of joint pain, and reduction in generalized stiffness is evident. There is no evidence of metabolic abnormality, with glycemic and lipid profiles within normal limits. During follow-up, the patient has undergone trabeculectomy and bilateral intraocular valve insertion for glaucoma correction, and right lower lip hemangioma resection. Auditory evoked potentials performed at 9 years of age showed severe bilateral hearing loss. Evident difficulty with activities of daily living are due to the fact that the patient is a carrier of a severe and rapidly progressive variant of MPS VI (figure 4).