An athletic, dark-haired 13-year-old girl was admitted to our hospital with an acute migraine attack with vomiting, dispnoea, abdominal pain, and left-sided body weakness. Anamnesis revealed frequent migraines within the previous 2 years associated with vomiting and bulbar motion abnormalities. On admission, she was somnolent, pale, with left facial nerve paresis, left-sided body weakness, hyperactive deep tendon reflexes, and positive plantar reflex. Multiple hyperpygmentated skin spots and hairy forearms and thighs were also noted without visible evidence of neurofibromas. Cardiac auscultatory findings, the chest X-ray and the computed tomography (CT) of the brain performed on admission were normal. Electroencephalogram (EEG) showed low voltage delta activity. The repeated CT scan after 12 h demonstrated a massive right-sided fronto-parietal ischemic zone . Heart ultrasound (ECHO) showed a huge left atrial mass (28 × 37 × 57mm) on a short peduncle, arising from the roof of the left atrium protruding through the mitral valve into the left ventricle . She was operated after stabilization of her cardiac and cerebrovascular status. The mass was enucleated in toto including a piece of the underlying atrial septum via the left and right atriotomy [Figure , ]. The histopathological findings demonstrated typical cardiac myxoma. The postoperative course was uneventful and the girl was discharged to a rehabilitation centre. Her postoperative cardiac ECHO examination on day 15, 2, and 4 months after surgery showed no residual tumor. She was readmitted to our hospital six months after the initial operation with severe headache, choking and speech difficulties. The cardiac ECHO demonstrated a new tumorous mass (8 × 10 mm), hanging on a long peduncle from the midportion of the interatrial septum. The finding was confirmed by nuclear magnetic resonance imaging (NMR) . On reoperation, the mass was found to originate from the foramen ovale region. The tumor was resected with the underlying septum. The operative and postoperative courses were uneventful. The histology confirmed an identical myxoma as the primary mass. More attention was paid to her hypertelorism and pigmentation but no endocrine abnormalities (thyroid and parathyroid gland, pituitary and adrenal gland) were detected by routine imaging and laboratory investigations. The gynecological findings were within normal limits for a teenage female. The DNA samples were sent to the referent centre for Carney complex (Dr Stratakis, National Institute of Health, University of Washington, and Seattle)[6
] where it was confirmed protein kinase A regulatory subunit 1A mutation (PRKAR1A), c418_419delCA het in exon 4 in our patient. The genetic investigation of the family was negative, the girl obviously being a new mutation.
(a) computed tomography brain scan. (b) Cardiac Heart ultrasound of primary myxoma. (c) nuclear magnetic resonance imaging of recurrent myxoma
(a) Intraoperative view of the tumor (b) The enucleated myxoma
Her routine follow up at 1, 3, 6, 12, and 24 months showed no new cardiac masses.