ABSTRACT
RESUMEN El complejo de esclerosis tuberosa es una afección genética, aproximadamente dos tercios de los casos ocurren esporádicamente; se caracteriza por lesiones y tumores benignos (hamartomas) en múltiples sistemas orgánicos. La detección prenatal precisa es importante para el pronóstico, una decisión sobre el resultado del embarazo y el asesoramiento. Se reporta el caso de una gestante sana y su feto con diagnóstico presuntivo de esclerosis tuberosa, por hallazgo de masas intracardiacas en ecografía prenatal, confirmados luego del nacimiento, con afectación de otros órganos, cumpliendo con criterios mayores de diagnóstico. El caso presentado es el primero registrado en el Departamento de Neonatología y tiene el objetivo de mostrar la aproximación diagnóstica prenatal y postnatal de una enfermedad relativamente rara.
ABSTRACT Tuberous sclerosis complex is a genetic condition caused by mutations in the tumor suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16 respectively. Approximately two-thirds of cases occur sporadically and the overall incidence has been estimated to be 1 in 5,800 live births. It is characterized by benign lesions and tumors (hamartomas) in multiple organ systems (brain, heart, skin, eyes, kidneys, lungs, liver). Accurate prenatal detection is important for prognosis, a decision about the pregnancy outcome, and counseling. We report the case of a healthy pregnant woman and her fetus with a presumptive diagnosis of tuberous sclerosis, due to the finding of intracardiac masses on prenatal ultrasound, confirmed after birth, with involvement of other organs, fulfilling the major diagnostic criteria. The case presented is the first recorded case at our Department of Neonatology and this report illustrates the prenatal and postnatal diagnostic approach of a relatively rare disease.
ABSTRACT
Tuberous Sclerosis is an autosomal-dominant neurocutaneous disorder with a clinical triad of seizures, mental retardation and adenoma sebaceum, and the incidence is approximately one in 15,000 to 30,000 live births. The condition can be suspected if multiple cardiac rhabdomyomas are seen on fetal ultrasound. Tuberous sclerosis was subsequently confirmed by the brain ultrasound and MRI which revealed multiple nodules in the subcortical, subependymal or periventricular areas. We experienced two cases of antenatal tuberous sclerosis was diagnosed by ultrasound. One case was diagnosed with tuberous sclerosis at birth, the other case was confirmed with tuberous sclerosis during follow up brain ultrasound. We report these cases with brief review of related literatures.
Subject(s)
Brain , Follow-Up Studies , Incidence , Intellectual Disability , Live Birth , Neurocutaneous Syndromes , Parturition , Prenatal Diagnosis , Rhabdomyoma , Seizures , Tuberous SclerosisABSTRACT
Cardiac rhabdomyomas are relatively uncommon and associated with tuberous sclerosis in 40-50% cases. We report a 10-month-old infant with tuberous sclerosis who presented with ventricular arrythmias and status epilepticus. There were hypopigmented macules on the body, periventricular calcifications, renal cyst and cardiac rabdomyomas just below the aortic valve. The patient required resection of left ventricular subaortic masses due to sustained arrythmia in spite of intravenous amiodarone therapy. The pathologic examination confirmed the diagnosis of rhabdomyoma. The patient had no more arrythmia during the 14 month follow up period. Although cardiac rhabdomyomas may spontaneously regress, surgery is often necessary and frequently resolves the underlying arrythmia.
Subject(s)
Humans , Infant , Amiodarone , Aortic Valve , Arrhythmias, Cardiac , Diagnosis , Follow-Up Studies , Rhabdomyoma , Status Epilepticus , Tachycardia, Ventricular , Tuberous SclerosisABSTRACT
Perinatal cardiac tumors are rare and the vast majority are histologically benign. Clinical manifestations depend on their size and location. Most of them are clinically unimportant but an arrhythmia or a cardiac failure may present as a feature of obstruction of the outflow tract. Cardiac rhabdomyoma is the most common type of the cardiac tumor and associated with the tuberous sclerosis, and may be the only sign of the tuberous sclerosis, especially, in fetus. We report a case of a cardiac tumor detected during routine prenatal ultrasonographic evaluation, which demonstrated features of rhabdomyoma. After birth, the newborn was diagnosed as tuberous sclerosis with brain MRI scanning.
Subject(s)
Humans , Infant, Newborn , Arrhythmias, Cardiac , Brain , Fetus , Heart Failure , Heart Neoplasms , Magnetic Resonance Imaging , Parturition , Rhabdomyoma , Tuberous Sclerosis , UltrasonographyABSTRACT
Symptomatic primary heart tumors are rare in newborn. Cardiac rhabdomyoma is the most common lesion of the primary heart tumors and over half of them are related to kthe tuberous s clerosis. We described a case of cardiac rhabdomyoma, in a 2 day-old female newborn who presented with dyspnea and cyanosis. A 2D Echocardiogram demonstrated two masses; one is in the rt. ventricle and another is in the interventricular septum. Additional cardiac masses and cerebral tubers and subependymal giant cell astrocytoma were found at autopsy.