tuberous sclerosis complex ( tsc ) is an autosomal - dominant inherited multisystem disorder with birth incidence of approximately 1 per 5,000 to 10,000 live births . this syndrome is characterized by tumor - like malformations in numerous organs , including the heart . two chromosomal loci have been identified producing tuberous sclerosis phenotype : 9q 34.3 ( tsc1 ) and 16p 13.3 ( tsc2 ) ( 1 , 2 ) . about two - thirds of the tsc cases are sporadic and appear to represent new mutations however , the full triad occurs in only 29% of patients ; 6% of them lack all three of  ( 4 ) . according to the clinical criteria defined by the tuberous sclerosis consensus conference , ( 5 ) tsc is diagnosed presenting either 2 major features- which involve hypomelanotic macules , angiofibromas ( 3 ) , ungual fibromas ( 2 ) , shagreen patch , multiple retinal hamartomas , cortical dysplasias , subependymal nodules , subependymal giant cell astrocytoma , cardiac rhabdomyoma , lymphangioleiomyomatosis ( lam ) , and angiomyolipomas- or 1 major and 2 minor features- including  confetti  skin lesions , dental enamel pits ( 3 ) , retinal achromic patch , multiple renal cysts , nonrenal hamartomas . this report summarizes a case of tsc in a premature infant , born at 34 weeks gestation with ascites . after birth , multiple cardiac mass , subependymal cysts and hypopigmented macules were detected . to our knowledge , this is the first case report of early onset of tsc with chylous ascites in iran . a 23-year - old woman , gravida i , was referred to valie - e - asr hospital , nicu , tehran , iran in 2014 , at 31 weeks of gestation for evaluation of an abnormal ascites noted on sonography . however , the fetus had severe hydrops ( ascites , and skin edema ) ( fig . the fetus at 31 weeks of gestation with ascites in addition , mild stasis was noted on the right fetal kidney ( fig . the size of both kidneys was within the normal range , and the cortical echogenicity of both kidneys was normal . a cesarean delivery was performed at 34 weeks of gestation and a female neonate was delivered . ultrsonographic features of the kidneys the fetal development at the time of birth was in accordance with the gestational age . the newborn weight was 2,500 g , and the apgar score was 9 at one and five minutes after delivery . because of severe ascites , she was transferred to the neonatal intensive care unit , and abdominal paracentesis was performed for ascites to be removed and sent for culture and smear ( fig . 3 ) . following the removal of 3 liters of ascitic fluid , due to patient s rapid re - accumulation of ascites , paracentesis was required again to remove 2 more liters of fluid on day 3 of life . severe ascites in the newborn another paracentesis was repeated in the next day and 70 ml of ascitic fluid were removed . screening tests ( e.g. , cell count and differential , albumin and total protein concentration ) were performed on the initial specimen , which was negative for malignant cells , bacterial culture and biochemical test . serological testing for maternal torch , human immunodeficiency virus and bacterial cultures of blood , urine and endocervical swabs were negative . further sonographic and mri examinations detected subependymal cysts on the right and left sides ( fig . 4 ) . in addition , neonatal echocardiography showed multiple cardiac masses in the left and right ventricle ( fig . 5).there was no need to perform any heart medications because the heart appeared hemodynamically stable . both parents underwent several evaluations for tsc , including ophthalmological examination , skin examination , echocardiogram , abdominal ultrasound scan and brain ct scan , all of which have been normal . echocardiography showing cardiac mass in the left and right ventricle all data exported from patient record was under parent s permission and we tried to keep data security . chylous ascites is a very rare condition at any age , particularly in early infancy , which is commonly due to secondary conditions . after confirmation of a chylous disorder , here we report a case that was referred to our unit because of ascites at 31 weeks of gestation . after birth , further examinations showed subependymal cysts , cardiac mass , hypopigmented macules and neurologic findings . the diagnosis of tsc relies on clinical and radiological investigation as well as family history ( 7 ) . symptoms of tsc vary widely from one person to another , and typically change over time within the same individual . . thirty nine percent of tsc patients had missed symptoms or signs of tsc which should have led to earlier diagnosis ( 8) . only 28% of patients ( 69/234 ) were diagnosed within the first 6 months of life , mostly presented with a new onset of seizures or infantile spasms . other missed symptoms included infantile spasms , family history of tsc , cardiac rhabdomyomas , and skin disorders . on the other hand , cardiac tumours are extremely rare in children ( 0.027 to 0.17% ) ( 9 ) . in many cases these tumors the detection of a cardiac mass was the only prenatal sign of tsc in four fetuses ( 11 , 12 ) . although , the prognosis of isolated cardiac rhabdomyomas is quite good and almost all tumors regress spontaneously after delivery , in cases without a family history of tuberous sclerosis , it is difficult to counsel families on the long - term prognosis ( 13 ) . in the present case , the neurodevelopmental assessments at the follow up showed jerky movements . another important diagnostic sign is the presence of multiple hypopigmented macules , which was observed in the reported case after two months . although tsc is commonly reported to follow an autosomal dominant hereditary pattern with variable expressivity , our case seems to be sporadic as there was no family history ( 14 ) . there are only attempts to treat certain clinical manifestations to prevent complications ( 15 ) . due to multisystem involvement ethical issues ( including plagiarism , informed consent , misconduct , data fabrication and/or falsification , double publication and/or submission , redundancy , etc . ) have been completely observed by the authors .
background : tuberous sclerosis complex ( tsc ) is an autosomal - dominant hereditary disorder . 
 this syndrome is characterized by tumor - like malformations in several organs , as well as the heart . 
 this report summarizes a case of tsc in a premature infant , born at 34 weeks gestation with ascites . after birth , multiple cardiac mass , 
 subependymal cysts and hypopigmented macules were detected . to our knowledge , this is the first case report of early onset of tsc with chylous ascites in iran .