Pulmonary glial heterotopia in a child diagnosed with fanconi anemia and epilepsy
Laura Alonso1, Julián Sevilla, Marta Gonzalez-Vicent
1Hemato-Oncología Pediátrica y Trasplante hematopoyético, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Background:
Pulmonary glial heterotopia is rare and its pathogenesis is still obscure as for Fanconi anemia (FA).
Observation:
This study describes a very rare case of an incidental finding of pulmonary glial heterotopia in a girl diagnosed with FA, epilepsy, and mental retardation. Before this report, the association of pulmonary glial heterotopia and FA had not been described.
Conclusions:
The unique finding in this patient could be a link between FA and abnormal cell migration, but it certainly teaches us that there is still much to be learnt of the molecular mechanisms underlying the clinical manifestations in FA.
