An autopsy case of caudate nucleus lobulation accompanied with diaphragmatic eventration.
We describe an autopsy female case of multiple anomalies with lobulation of caudate nucleus tail, diaphragmatic eventration, skeletal anomalies, pyramidal tract anomaly, and meningothelial meningioma. Her psychomotor development was delayed, and she developed bilateral eventration of the diaphragms on X-ray film in her third decades. Right hemi-colonectomy was performed for volvulus at the age of 44 years, and meningioma was incidentally identified. She died at the age of 47 years. Autopsy demonstrated the partial deficiency of the muscular tissue in the circular thinned membranous area predominantly on left side including the central tendon of the diaphragm. The tails of the bilateral caudate nucleus demonstrated excessive lobulations, and the brainstem pyramidal tract showed hypoplasia. Immunoreactivity for tyrosine hydroxylase was deficient in the lobulated tail of caudate. We believe that this case is characterized by a rare combination of eventration, skeletal and nervous anomalies.
Hamano
Kimiko
K
Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, 2-9-2 Musashi-dai,Fuchu-shi, Tokyo 183-0042, Japan. Kimiko_Hamano@member.metro.tokyo.jp
Kumada
Satoko
S
Hayashi
Masaharu
M
Kurano
Nobuyuki
N
Uchiyama
Akira
A
Kurata
Kiyoko
K
D000015:Abnormalities, Multiple / Q000473:pathology*; D002421:Caudate Nucleus / Q000473:pathology*; D003964:Diaphragm / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008577:Meningeal Neoplasms / Q000473:pathology; D008579:Meningioma / Q000473:pathology; D008875:Middle Aged; D011712:Pyramidal Tracts / Q000473:pathology