Congenital absence of the mammillary bodies: A novel finding in a well-studied case of developmental amnesia

Individuals with developmental amnesia experience compromised development of episodic memory for details of personal life events, believed to relate to changes to the hippocampus after birth. Here we report the very rare discovery of aplasia of the mammillary bodies, hypogenesis of the fornix, and abnormal hippocampal shape and orientation in H.C., a well-documented case of selectively compromised episodic memory development who is the subject of numerous published empirical articles. These anatomical abnormalities are highly suggestive of disrupted extended hippocampal system development very early in gestation, despite an original diagnosis of developmental amnesia and assumed perinatal hypoxia. These findings provide a unique window into the normal function of the mammillary bodies, fornices, and related anterior nuclei of the thalamus bilaterally. The results also encourage re-examination of the pathological basis of developmental amnesia in other cases reported in the literature.