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.
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.