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[Diffuse and binodular goiter in a patient with tuberous sclerosis].
Vojnosanitetski Pregled
|January 5, 2002
Summary
Tuberous sclerosis complex, a rare genetic disorder, can affect the thyroid gland, leading to goiter. This case highlights an unusual association between tuberous sclerosis complex and diffuse, binodular goiter in a patient without seizures.
Area of Science:
- Genetics
- Neurology
- Endocrinology
Background:
- Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disorder.
- It is characterized by hamartomatous lesions affecting multiple organs, primarily the brain, skin, and viscera.
- Thyroid gland involvement is exceptionally rare in TSC patients.
Observation:
- A case study of a 39-year-old female patient with TSC is presented.
- The patient exhibited diffuse and binodular goiter.
- Despite intracranial calcifications and tubers, she had no epileptic seizures; borderline intellectual functioning was noted.
Findings:
- Clinical, endocrine, and metabolic evaluations were conducted due to symptoms like anxiety, weight loss, and swallowing difficulties.
- Physical examination revealed diffuse, asymmetric thyroid enlargement.
- Thyroid function tests, ultrasound, scintiscanning, and fine-needle aspiration biopsy confirmed a euthyroid, inactive, diffuse, and binodular goiter.
Implications:
- This case underscores the rare but possible association between tuberous sclerosis complex and goiter.
- It highlights the importance of comprehensive evaluation in TSC patients presenting with endocrine abnormalities.
- Further research may elucidate the underlying mechanisms connecting TSC and thyroid pathology.