[Tuberous sclerosis in a premature infant (author's transl)]

Area of Science:

• Neuropathology
• Developmental Biology
• Genetics

Context:

• Tuberous sclerosis is a genetic disorder affecting multiple organs.
• Sporadic cases present unique challenges in understanding disease mechanisms.
• Fetal rhabdomyomas can lead to severe complications during gestation.

Purpose:

• To report a rare sporadic case of tuberous sclerosis in a stillborn infant.
• To investigate the ultrastructural characteristics of atypical cells in cerebral tubers.
• To discuss the potential significance of glio-epithelial features in these lesions.

Summary:

• A stillborn infant at 31 weeks gestation exhibited tuberous sclerosis with massive cardiac rhabdomyomas, presumed cause of death.
• Cerebral lesions typical of tuberous sclerosis were observed.
• Atypical cells in cortical tubers showed features of reactive astrocytes with microvilli and junctional complexes resembling ependymocytes.

Impact:

• Provides insights into the cellular pathology of tuberous sclerosis in fetal development.
• Highlights the potential for glio-epithelial differentiation in tuberous sclerosis lesions.
• Contributes to the understanding of rare genetic disorder manifestations and their impact on fetal outcomes.