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Diagnosis and Treatment > Signs and Symptoms

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Anna Popławska-Kita Departments of Endocrinology, Diabetology and Internal Medicine

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Marta Wielogórska Departments of Endocrinology, Diabetology and Internal Medicine

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Łukasz Poplawski Radiology, Medical University of Bialystok, Bialystok, Poland

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Katarzyna Siewko Departments of Endocrinology, Diabetology and Internal Medicine

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Agnieszka Adamska Departments of Endocrinology, Diabetology and Internal Medicine

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Piotr Szumowski Departments of Nuclear Medicine, Medical University of Bialystok, Bialystok, Poland

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Piotr Myśliwiec 1st Clinic Department of General and Endocrine Surgery, Medical University of Bialystok, Bialystok, Poland

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Janusz Myśliwiec Departments of Nuclear Medicine, Medical University of Bialystok, Bialystok, Poland

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Joanna Reszeć Departments of Medical Pathomorphology, Medical University of Bialystok, Bialystok, Poland

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Grzegorz Kamiński Department of Endocrinology and Radioisotopy Therapy, Military Institute of Medicine, Warsaw, Poland

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Janusz Dzięcioł Departments of Human Anatomy, Medical University of Bialystok, Bialystok, Poland

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Dorota Tobiaszewska Departments of Endocrinology, Diabetology and Internal Medicine

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Małgorzata Szelachowska Departments of Endocrinology, Diabetology and Internal Medicine

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Adam Jacek Krętowski Departments of Endocrinology, Diabetology and Internal Medicine

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Summary

Papillary thyroid gland carcinoma is the most common type of malignancy of the endocrine system. Metastases to the pituitary gland have been described as a complication of papillary thyroid cancer in few reported cases since 1965. We report the case of a 68-year-old female patient with a well-differentiated form of thyroid gland cancer. Despite it being the most common malignant cancer of the endocrine system, with its papillary form being one of the two most frequently diagnosed thyroid cancers, the case we present is extremely rare. Sudden cardiac arrest during ventricular fibrillation occurred during hospitalization. Autopsy of the patient revealed papillary carcinoma of the thyroid, follicular variant, with metastasis to the sella turcica, and concomitant sarcoidosis of heart, lung, and mediastinal and hilar lymph nodes. Not only does atypical metastasis make our patient’s case most remarkable, but also the postmortem diagnosis of sarcoidosis makes her case particularly unusual.

Learning points:

  • The goal of presenting this case is to raise awareness of the clinical heterogeneity of papillary cancer and promote early diagnosis of unexpected metastasis and coexisting diseases to improve clinical outcomes.

  • Clinicians must be skeptical. They should not fall into the trap of diagnostic momentum or accept diagnostic labels at face value. Regardless of the potential mechanisms, clinicians should be aware of the possibility of the coexistence of thyroid cancer and sarcoidosis as a differential diagnosis of lymphadenopathy.

  • This case highlights the importance of the diagnostic and therapeutic planning process and raises awareness of the fact that one uncommon disease could be masked by another extremely rare disorder.

Taxonomy:
Clinical Overview, Gland/Organ, Thyroid, Topic, Thyroid, Hormone, FSH, LH, Prolactin, TSH, Condition/ Syndrome, Goitre (multinodular), Granuloma, Hyperprolactinaemia, Hyponatraemia, Hypopituitarism, Lymphadenopathy, Metastatic carcinoma, Papillary thyroid cancer, Pituitary adenoma, Thyroid carcinoma, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, White, Country of Treatment, Poland, Diagnosis and Treatment, Signs and Symptoms, Diplopia, Dizziness, Goitre, Headache, Heart failure, Hyperprolactinaemia, Hyponatraemia, Hypopituitarism, Lymphadenitis, Normochromic normocytic anaemia, Paraesthesia, Ptosis, Sarcoidosis, Ventricular fibrillation, Vision - acuity reduction, Visual impairment, Vomiting, Investigation, CT scan, Fine needle aspiration biopsy, FSH, Histopathology, Immunohistochemistry, LH, MRI, Pituitary function, Prolactin, Radionuclide imaging, Thyroid transcription factor-1, Thyroglobulin, Thyroid antibodies, Thyroid ultrasonography, TSH, Ultrasound scan, Intervention, Lymph node dissection, Resection of tumour, Thyroidectomy, Transsphenoidal surgery, Medication, Bromocriptine, Corticosteroids, Dopamine agonists, Glucocorticoids, Hydrocortisone, Levothyroxine, Mineralocorticoids, Sodium chloride, Related Disciplines, Surgery, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-19-0148
Volume/Issue:
Volume 2020: Issue 1
Open access
Syed Ali Imran Division of Endocrinology and Metabolism, Dalhousie University, Halifax, Nova Scotia, Canada

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Khaled A Aldahmani Division of Endocrinology, Tawam Hospial, Al-Ain, UAE

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Lynette Penney Department of Pediatrics, Tawam Hospial, Al-Ain, UAE

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Sidney E Croul Department of Pathology, Tawam Hospial, Al-Ain, UAE

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David B Clarke Department of Neurosurgery, Dalhousie University, Halifax, Nova Scotia, Canada

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David M Collier Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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Donato Iacovazzo Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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Márta Korbonits Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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Summary

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy.

Learning points:

  • Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.

  • Unusual, previously not described AIP variant with loss of the stop codon.

  • Phenocopy may occur in families with a disease-causing germline mutation.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, Dihydrotestosterone, FSH, GH, IGF1, LH, Prolactin, Thyroxine (T4), TSH, Condition/ Syndrome, Acromegaly, Gigantism, Hypogonadism, Pituitary adenoma, Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, American Indian or Alaska Native, Country of Treatment, Canada, Diagnosis and Treatment, Signs and Symptoms, Arthralgia, Face - coarse features, Fatigue, Hemianopia, Hypogonadism, Leg pain, Paraesthesia, Prognathism, Scoliosis, Skin - texture change, Teeth gapping, Visual impairment, Investigation, Bone age, Cortisol (9am), DNA sequencing, FSH, FT4, Genetic analysis, GH, GH suppression, Glucose tolerance (oral), Haematoxylin and eosin staining, Histopathology, IGF1, Immunohistochemistry, LH, Molecular genetic analysis, MRI, Prolactin, Testosterone, TSH, Visual field assessment, Weight, Intervention, Resection of tumour, Transsphenoidal surgery, Medication, Glucocorticoids, Hydrocortisone, Testosterone, Thyroxine (T4), Publication Details, Case Report Type, Error in diagnosis/pitfalls and caveats
DOI:
https://doi.org/10.1530/EDM-17-0092
Volume/Issue:
Volume 2018: Issue 1
Open access