Autopsy case of multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking Micro syndrome

Area of Science:

• Neuropathology
• Developmental Biology
• Endocrinology

Background:

• Micro syndrome is a rare genetic disorder characterized by microcephaly, brain malformations, optic atrophy, and hypogenitalism.
• Autopsy studies are crucial for understanding the full spectrum of severe congenital anomalies and their pathological basis.

Observation:

• An autopsy was performed on a 23-year-old female with severe micrencephaly, bilateral microphthalmos, and underdeveloped endocrine organs.
• The brain exhibited extreme smallness of cerebrum, cerebellum, and brain stem, absent tertiary sulci, and a reduced cerebral cortex area.
• Histological examination revealed preserved cortical lamination and neuronal density, despite hypothalamic and pituitary abnormalities, including reduced adenohypophysial somatotrophs.

Findings:

• The case presented with features consistent with Micro syndrome, including severe brain and endocrine hypoplasia.
• Preserved cytoarchitecture and calcium-binding protein expression in the cerebral cortex were noted despite overall brain size reduction.
• Specific brain malformations included a hypoplastic third ventricle, fused thalami, and an unrolled hippocampus, with a preserved corpus callosum.

Implications:

• This report may be the first autopsy case of Micro syndrome, providing detailed neuropathological insights.
• Understanding the preserved cortical features despite severe micrencephaly could elucidate developmental pathways in Micro syndrome.
• Further research into the genetic and molecular underpinnings of these malformations is warranted to improve diagnosis and potential therapies.