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.