2] The presence of common manifestations include cortical or subependymal tubers, white matter abnormalities, cardiac rhabdomyoma
, renal angiomyolipoma, and skin lesions.
In a case of early-onset Gorlin-Goltz syndrome reported recently in the literature, a total of three tumors including BCC, fetal rhabdomyoma
, and an adnexial tumor-like skin tumor, were found in a 22-month-old female patient (5).
Left: An intermediate-type fetal rhabdomyoma
shows immature, round muscle cells, juxtaposed to mature skeletal muscle.
When to suspect TSC: Some suggestive clinical signs and symptoms Family history * A family history of TSC may lead to comprehensive physical work-up and diagnosis of the disorder Antenatally * Cardiac rhabdomyoma
on fetal ultrasound or fetal MRl * Cortical dysplasias such as cortical tubers or SENs on fetal ultrasound or fetal MRl First 5 years of life * Hypomelanotic macules (white patches) on the skin (distinct from vitiligo in that melanocytes are present in normal numbers in TSC hypomelanotic macules) (Fig.
Case Presentation: In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabdomyoma
detected in utero at 26 weeks was reported who subsequently had fetal demise at 31 weeks.
of the interventricular septum presenting as a Brugada phenocopy.
1] Benign laryngeal tumors include papillomas, hemangiomas, fibromas, chondromas, myxomas, neurofibromas, schwannomas, adenomas, granular cell myoblastoma, lipomas, paragangliomas, leiomyoma, and rhabdomyoma
Subependymal nodule(s), Subependymal giant cell astrocytoma (s), Cardiac rhabdomyoma
, Lymphangioleiomyomatosis (LAM), Angiomyolipomas (2 or more).
can be found in 50%-65% of patients with TS .
11] Benign tumours invading the bladder are myoma, leiomyoma, rhabdomyoma
, fibroma, angioma, osteoma and mixoma.
A case report showed significant regression of a cardiac rhabdomyoma
after receiving treatment with the mTOR inhibitor everolimus (Tiberio, Franz, & Phillips, 2011).
A solitary nodule occurring at the tip of the tongue in a child may be a retention cyst, a benign tumor like rhabdomyoma
or granular cell tumor or a malignant tumor like lymphoma, PNET or Rhabdomyosarcoma.