We report an unusual case of a Kabuki syndrome associated with biliary atresia and endocrinopathies, and suggest a likely association of the causative mechanisms with the underlying KMT2D mutation. We discuss the pathologies in the context of laboratory, imaging, and modeling data, correlate latest findings of the relevant genetics studies, and outline the prospective therapies.
diffusely thin corpus callosum (CC, white arrows) with absence of rostrum and genu, likely due to secondary destruction (considering development from anterior to posterior aspect). However, given a slower growth of CC in premature infants, the appearance is time-dependent. Note also the diminished vasopressin-associated hyperintensity of the posterior pituitary lobe (red arrow), possibly related to GHD.