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Patient Demographics

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Kara Alex-Ann Beliard Icahn School of Medicine, Mount Sinai Department of Pediatric Endocrinology, Kravis Children's Hospital, New York, NY, USA

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Srinidhi Shyamkumar Touro College of Osteopathic Medicine, New York, NY, USA

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Preneet Cheema Brar Division of Pediatric Endocrinology, New York University Grossman School of Medicine, New York, NY, USA

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Robert Rapaport Icahn School of Medicine, Mount Sinai Department of Pediatric Endocrinology, Kravis Children's Hospital, New York, NY, USA

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Summary

We describe a case of an infant who presented with clinical features of hyperthyroidism. The child was found to be tachycardic, hypertensive and diaphoretic, she was noted to have poor weight gain and difficulty in sleeping. The child was admitted to the pediatric intensive care unit for care. She was found to have biochemical evidence of hyperthyroidism with positive thyroid stimulating immunoglobulin. She responded well to methimazole and propranolol and had a remarkable recovery. She is the youngest patient to be diagnosed with Graves disease in the English literature, at 12 months of life.

Learning points

  • Hyperthyroidism must always be considered even at very young age, for patient presenting with poor weight gain and hyperdynamic state.

  • Autoimmune diseases are becoming more common in infancy.

  • Craniosynostosis and increased height for age are well-documented consequences of untreated hyperthyroidism in developing children.

Taxonomy:
Clinical Overview, Gland/Organ, Thyroid, Topic, Thyroid, Patient Demographics, Age, Paediatric, Gender, Female, Ethnicity, Asian - Chinese, Country of Treatment, United States, Related Disciplines, Gastroenterology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-20-0162
Volume/Issue:
Volume 2021: Issue 1
Open access
Skand Shekhar Section on Endocrinology & Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Sriram Gubbi Diabetes, Endocrinology, and Obesity Branch, National Institute of Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA

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Georgios Z Papadakis Department of Medical Imaging, Heraklion University Hospital, Medical School, University of Crete, Crete, Greece
Computational Biomedicine Laboratory (CBML), Institute of Computer Science (ICS), Foundation for Research and Technology Hellas (FORTH), Heraklion, Greece

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Naris Nilubol Surgical Oncology Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Fady Hannah-Shmouni Section on Endocrinology & Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Summary

Adrenococortical carcinoma (ACC) is a rare cancer, occurring at the rate of one case in two million person years. Cushing syndrome or a mixed picture of excess androgen and glucocorticoid production are the most common presentations of ACC. Other uncommon presentations include abdominal pain and adrenal incidentalomas. In the present report, a 71-year-old male presented with abdominal pain and was eventually diagnosed with ACC. He was found to have pulmonary thromboembolism following an investigation for hypoxemia, with the tumor thrombus extending upto the right atrium. This interesting case represents the unique presentation of a rare tumor, which if detected late or left untreated is associated with poor outcomes, highlighting the need for a low index of suspicion for ACC when similar presentations are encountered in clinical practice.

Learning points:

  • ACC is a rare but aggressive tumor.

  • ACC commonly presents with rapid onset of hypercortisolism, combined hyperandrogenism and hypercortisolism, or uncommonly with compressive symptoms.

  • Clinicians should have a low index of suspicion for ACC in patients presenting with rapid onset of symptoms related to hypercortisolism and/or hyperandrogenism.

  • Venous thromboembolism and extension of the tumor thrombus to the right side of the heart is a very rare but serious complication of ACC that clinicans should be wary of.

  • The increased risk of venous thromboembolism in ACC could be explained by direct tumor invasion, tumor thrombi or hypercoagulability secondary to hypercortisolism.

  • Early diagnosis and prompt treatment can improve the long-term survival of patients with ACC.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, Cortisol, Condition/ Syndrome, Adrenocortical carcinoma, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, Asian - Chinese, Country of Treatment, United States, Diagnosis and Treatment, Signs and Symptoms, Abdominal pain, Dyspnoea, Heart failure, Hypoxia, Investigation, Cortisol (serum), CTPA scan, CT scan, Dexamethasone suppression, Echocardiogram, Fine needle aspiration biopsy, MRI, PET scan, Medication, Heparin, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-19-0095
Volume/Issue:
Volume 2019: Issue 1
Open access