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the carney complex ( cnc ) is a rare dominantly inherited syndrome characterized by skin pigment abnormalities , endocrine over activity and cardiac myxomas .
about 600 patients worldwide have been reported by the national institute of health ( nih ) - mayo clinic ( usa ) and the cochin centre ( france ) by january 2008 .
cardiac myxomas are rare benign tumors with an estimated incidence of 0.5 - 1 per million population per year , accounting for 45% primary cardiac tumors in adults and 15% in children . recurrence is reported in sporadic ( 4%-7% ) and familial cases ( 10%-21% ) with the interval between the formation of the new tumor of more than 4 years .
although well documented in the adult population , information about cerebral embolism in the pediatric population is still limited .
the following case illustrates a combination of the two rare diseases clinically presenting with a cerebral stroke and an extremely rapid recurrence of the left atrial myxoma in a teenager .
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 .
the repeated ct scan after 12 h demonstrated a massive right - sided fronto - parietal ischemic zone [ figure 1a ] .
heart ultrasound ( echo ) showed a huge left atrial mass ( 28  37  57 mm ) on a short peduncle , arising from the roof of the left atrium protruding through the mitral valve into the left ventricle [ figure 1b ] .
the mass was enucleated in toto including a piece of the underlying atrial septum via the left and right atriotomy [ figure 2a , b ] .
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 ) [ figure 1c ] .
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 dna samples were sent to the referent centre for carney complex ( dr stratakis , national institute of health , university of washington , and seattle ) 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 .
( 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 .
intracardiac tumors in the pediatric age group are rare with an incidence of 0.17% in children .
myxomas account for 6% of all pediatric cardiac tumors after rhabdomyomas ( 63% ) and fibromas ( 6% ) .
recurrence of the tumor has been reported with the majority of patients being reoperated more than four years after the initial surgery .
carney complex is a genetic disease inherited in an autosomal dominant manner , one of the additional criteria being a myxoma ( cutaneous , cardiac , breast or bone ) .
our patient with atrial myxoma had a de novo carney complex diagnosed after an extremely short recurrence period of the cardiac tumor .
the carney complex associated with myxoma of various locations is being extensively studied in connection with associated genetic abnormalities .
the most interesting controversy is a rather frequent recurrence of myxoma after complete resection , the fact not observed in most benign neoplasms . in spite of low incidence of the carney complex , its diagnosis is often established after several years of neurological symptoms and abnormal and clearly visible skin pigmentation .
this report supports the possibility of an early recurrence of cardiac myxoma , more likely to be attributed to its underlying genetic nature , rather than incomplete surgical resection .
we report a case of an extremely early recurrence of left atrial myxoma in a 13-year - old girl . on hospital admission , 
 the clinical presentation was of cerebral embolism with noticeable spotty skin pigmentation and hypertelorism . 
 the left atrial myxoma originated from the roof of the left atrium . 
 the histology specimen showed typical finding of a myxoma . 
 six months later a new intracardial mass was evacuated , the postoperative result showing the same type of myxomatous tissue . 
 genetic investigations demonstrated carney complex . 
 the genetic analysis of the child 's family was negative , demonstrating de novo mutation of this rare disorder .