A case of Carney complex with unusual presentation
SKA Shakoor1, F Lalloo2 & JRE Davis1
Carney complex consists of endocrine, cardiac, cutaneous and neural tumours, as well as pigmented lesions in the skin and mucosae. Endocrine manifestations include primary pigmented nodular adrenocortical disease, acromegaly, prolactinoma, large cell calcifying Sertoli cell tumour in males, and thyroid nodules and carcinomas. Here, we report a new case in whom the diagnosis was obscured by complicating presentations.
A female patient, presented with seizure like attacks at age 13 in 1987. She was also having intermittent palpitations. EEG did not show any abnormal focus. Antiepileptic drugs did not prevent the attacks. She was noticed to have freckles on her face in 1990. In 1991, she presented with secondary amenorrhoea and hirsutism. Investigations revealed hyperprolactinaemia (4000-7000 mU/L), elevation of testosterone (6.6 nmol/L), normal adrenals on CT scans, and a 6mm pituitary adenoma. She did not tolerate dopamine agonist therapy. Hence, she underwent transphenoidal adenomectomy in February 1998. In November 1999, she had echocardiogram after an episode of supraventricular tachycardia, which showed a large left atrial myxoma protruding into the left ventricle. She had two resection procedures in 2000 and 2002. A repeat EEG showed a focal abnormality in the right fronto-temporal area. Further endocrine investigations revealed normal growth hormone levels, serum IGF-1, thyroid function, and 24 hour urinary free cortisol, but plasma cortisol levels were abnormal (midnight cortisol 228 nmol/L, lack of suppression after overnight 1mg dexamethasone). Ultrasound scans revealed two nodules in the right lobe of thyroid gland. Both her parents were normal on screening for typical endocrine and clinical features.
This patient's atypical presentation including syncope like episodes, seizure confirmed by EEG, and the absence of family history, contributed to the late diagnosis. This case also demonstrates that mild Cushing's syndrome may only be detected by biochemical screening in these patients.