An unilateral rapidly growing amyloid goiter associated with osteopetrosis: a Case Report and Literature Review

Abstract

Abstract Introduction: Amyloid goiter of the thyroid is a rare disorder characterized by the deposition of amyloid proteins within the thyroid gland, leading to its enlargement and functional impairment. The exact cause of amyloid goiter remains unknown, but it is associated with multiple myeloma, systemic amyloidosis, and familial Mediterranean fever. Diagnosis is made through imaging studies and histological examination of thyroid tissue. Treatment options include observation, thyroid hormone replacement therapy, and surgical resection, depending on the extent of thyroid enlargement and functional impairment. Prognosis is generally favorable, but it depends on the underlying cause of amyloid deposition and the extent of thyroid involvement. Case Presentation: We report a case of a 37-year-old previously healthy male who presented with a history of progressively enlarging painless neck swelling for 2-3 months. The patient was euthyroid and denied any associated symptoms. The patient subsequently underwent an uneventful hemithyroidectomy along with an unremarkable postoperative period. Histopathology examination and special stains revealed the diagnosis of amyloid goiter. Conclusions: A strong index of suspicion is necessary in patients with an enlarged thyroid gland and a concurrent history of chronic inflammatory processes or plasma cell dyscrasia because amyloid goitre is a rare condition. The present case is unique and unusual since there is no record in the literature of an amyloid goitre being associated with osteopetrosis in a patient. To get a conclusive diagnosis and to get rid of symptoms, a thyroidectomy is required. For the diagnosis of this uncommon entity, a histopathological study is crucial. Every effort should be taken to determine the full scope of the illness, and plasma cell dyscrasia should be ruled out in people who were previously healthy.