Abstract
Tuberous sclerosis complex is a genetic, multisystemic disorder characterized by circumscribed benign lesions (hamartomas) in several organs, including brain. This is the result of defects in the TSC1 and/or TSC2 tumor suppressor genes, encoding the hamartin-tuberin complex that inhibits the mammalian target of rapamycin pathway. Specific inhibitors of this pathway have been shown to reduce the volume of subependymal giant cell astrocytomas associated with tuberous sclerosis. Congenital lymphedema is rarely seen in association with tuberous sclerosis, with only a few reported cases. Although this association can be coincidental, the dysgenetic lymphatic system can represent a hamartia as a consequence of gene mutation. We describe a child with congenital lymphedema in tuberous sclerosis and associated subependymal giant cell astrocytoma who experienced lymphangitis under treatment with mammalian target of rapamycin inhibitors. Because our patient did not show worsening of lymphedema, congenital lymphedema does not seem to be a contraindication for this therapy.
| Original language | English |
|---|---|
| Pages (from-to) | NP54-NP57 |
| Journal | Journal of Child Neurology |
| Volume | 29 |
| Issue number | 9 |
| DOIs | |
| Publication status | Published - 2014 |
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Keywords
- Congenital lymphedema
- Mammalian target of rapamycin inhibitors
- Tuberous sclerosis complex
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Medicine(all)
Cite this
Congenital segmental lymphedema in tuberous sclerosis complex with associated subependymal giant cell astrocytomas treated with mammalian target of rapamycin inhibitors. / Prato, Giulia; Mancardi, Maria Margherita; Baglietto, Maria Giuseppina; Janis, Sara; Vercellino, Nadia; Rossi, Andrea; Consales, Alessandro; Raso, Alessandro; Garrè, Maria Luisa.
In: Journal of Child Neurology, Vol. 29, No. 9, 2014, p. NP54-NP57.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital segmental lymphedema in tuberous sclerosis complex with associated subependymal giant cell astrocytomas treated with mammalian target of rapamycin inhibitors
AU - Prato, Giulia
AU - Mancardi, Maria Margherita
AU - Baglietto, Maria Giuseppina
AU - Janis, Sara
AU - Vercellino, Nadia
AU - Rossi, Andrea
AU - Consales, Alessandro
AU - Raso, Alessandro
AU - Garrè, Maria Luisa
PY - 2014
Y1 - 2014
N2 - Tuberous sclerosis complex is a genetic, multisystemic disorder characterized by circumscribed benign lesions (hamartomas) in several organs, including brain. This is the result of defects in the TSC1 and/or TSC2 tumor suppressor genes, encoding the hamartin-tuberin complex that inhibits the mammalian target of rapamycin pathway. Specific inhibitors of this pathway have been shown to reduce the volume of subependymal giant cell astrocytomas associated with tuberous sclerosis. Congenital lymphedema is rarely seen in association with tuberous sclerosis, with only a few reported cases. Although this association can be coincidental, the dysgenetic lymphatic system can represent a hamartia as a consequence of gene mutation. We describe a child with congenital lymphedema in tuberous sclerosis and associated subependymal giant cell astrocytoma who experienced lymphangitis under treatment with mammalian target of rapamycin inhibitors. Because our patient did not show worsening of lymphedema, congenital lymphedema does not seem to be a contraindication for this therapy.
AB - Tuberous sclerosis complex is a genetic, multisystemic disorder characterized by circumscribed benign lesions (hamartomas) in several organs, including brain. This is the result of defects in the TSC1 and/or TSC2 tumor suppressor genes, encoding the hamartin-tuberin complex that inhibits the mammalian target of rapamycin pathway. Specific inhibitors of this pathway have been shown to reduce the volume of subependymal giant cell astrocytomas associated with tuberous sclerosis. Congenital lymphedema is rarely seen in association with tuberous sclerosis, with only a few reported cases. Although this association can be coincidental, the dysgenetic lymphatic system can represent a hamartia as a consequence of gene mutation. We describe a child with congenital lymphedema in tuberous sclerosis and associated subependymal giant cell astrocytoma who experienced lymphangitis under treatment with mammalian target of rapamycin inhibitors. Because our patient did not show worsening of lymphedema, congenital lymphedema does not seem to be a contraindication for this therapy.
KW - Congenital lymphedema
KW - Mammalian target of rapamycin inhibitors
KW - Tuberous sclerosis complex
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U2 - 10.1177/0883073813499969
DO - 10.1177/0883073813499969
M3 - Article
VL - 29
SP - NP54-NP57
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 9
ER -