Autopsy case of multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking Micro syndrome.
We report an autopsy case of multiple anomalies with severe micrencephaly, bilateral microphthalmos, and hypoplastic endocrine organs. We examined expressions of calcium-binding proteins and hypothalamic and pituitary hormones. A female proband presented with microcephaly, microphthalmia, and psychomotor development delay. At the age of 23 years, she died of cardiorespiratory failure. The endocrine organs demonstrated severe underdevelopment, and the hypoplastic eyeballs had remnant lens, vitreous hemorrhage, and retinal detachment. The brain weighed 260 g; the cerebrum, cerebellum, and brain stem were extremely small; and the tertiary sulci were absent in the cerebral surface. The cross-sectional area of cerebral cortex was reduced to about one third of those in the control, although six-layered lamination, density of pyramidal neurons, and expressions of calcium-binding proteins were comparatively preserved in the cerebral cortex. The third ventricle was hypoplastic, and the bilateral thalami appeared to be fused and the hippocampus was unrolled, whereas the corpus callosum was preserved. In the hypothalamus, the paraventricular nucleus was only identified, and the adenohypophysial somatotrophs were reduced. This may be the first autopsy report of Micro syndrome, which is characterized by microcephaly, brain malformations, optic atrophy, and hypogenitalism, although the case lacked agenesis of the corpus callosum.
Hamano
Kimiko
K
Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan. k-hama@msi.biglobe.ne.jp
Kumada
Satoko
S
Nagata
Jinroh
J
Kurata
Kiyoko
K
Hayashi
Masaharu
M
Kojima
Hideaki
H
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002135:Calcium-Binding Proteins / Q000378:metabolism; D004702:Endocrine Glands / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006801:Humans; D007028:Hypothalamic Hormones / Q000378:metabolism; D008607:Intellectual Disability / Q000473:pathology; D008831:Microcephaly / Q000473:pathology*; D008850:Microphthalmos / Q000473:pathology*; D009474:Neurons / Q000473:pathology; D010907:Pituitary Hormones / Q000378:metabolism; D013577:Syndrome
D002135:Calcium-Binding Proteins; D007028:Hypothalamic Hormones; D010907:Pituitary Hormones