Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature.
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder with multi-organ involvement. The diagnosis is suspected at fetal ultrasound on the discovery of multiple cardiac rhabdomyomas (CRs). They typically develop in utero and undergo spontaneous regression during the first years of live. With developing neuroradiological methods more light is shed on antenatal cerebral lesions like cortical tubers or giant cell astrocytomas. Unfortunately these do not regress, but instead are in principle progressive in size and number, correlated with epilepsy, mental retardation and behavioral problems. It is unknown whether fetal cerebral lesions, are always correlated with a poor neurological outcome or a progressive course of disease. This makes prenatal counseling extremely difficult. We report one case of de novo TSC with first detection of cortical tubers on fetal ultrasound, later developing multiple CRs. The pregnancy was continued and the child is developing well during 16 months of follow-up. Minor motor seizures from the 10th month onwards are successfully treated with Valproate. The published cases with antenatal diagnosis of TSC are revised, trying to get more insight into the postnatal course of prenatally diagnosed TSC. This is crucial, either when termination of pregnancy (TOP) is considered, but even more for proper postnatal care and follow-up.
Department of Pediatrics, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. s.wortmann@cukz.umcn.nl
S B
SB
Wortmann
A
A
Reimer
J W T
JW
Creemers
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RA
Mullaart
D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology*; D005260:Female; D005817:Genetic Counseling; D006338:Heart Neoplasms / Q000150:complications / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis; D012207:Rhabdomyoma / Q000150:complications / Q000473:pathology; D012640:Seizures / Q000188:drug therapy / Q000209:etiology; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000473:pathology; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics; D014463:Ultrasonography; D014635:Valproic Acid / Q000627:therapeutic use
D000927:Anticonvulsants; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D014635:Valproic Acid