The optic nerve sheath and sclera were clearly thickened in comparison to normal values. Many morphological changes in the eye and optic nerve were already present at the time of the initial clinical diagnosis, and thus seem to develop very early in the course of the disease. ERT in our patients did not seem to alter the US characteristics of the globe or optic nerve.
Ectopic intrathyroidal thymic tissue is a rare occurrence; parathyroid glands sometimes occur in an intrathyroidal location, but this is uncommon. We report a 6-year-old boy who was noted to have a solitary thyroid nodule on ultrasound. A hemithyroidectomy was performed, and histological investigation revealed that the nodule consisted of ectopic intrathyroidal thymus tissue surrounding a well-defined parathyroidal gland. This condition is an exceedingly rare cause of a thyroid nodule, but intrathyroidal thymic tissue should probably be included in the differential diagnosis of solitary thyroid nodules.
Dissolution occurred in 57.2% of TCs within a mean of 25 months, and within 39.3 months all TCs showed decrease or loss of radio-opacity. Recanalisation of closed APCs occurred in 58.3%.
The identified TPO gene deletion is the first mutation coding for an inactive TPO molecule, which has a severely altered intracellular segment. Because the most likely reason for the enlarging goiter was poor compliance of the patient, this report underlines the importance of a careful and regular follow-up of patients with dyshormonogenesis.
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