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).