Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG).
X-linked lissencephaly with abnormal genitalia (XLAG) is characterized by lissencephaly, absent corpus callosum and ambiguous genitalia. We examined hypothalamic dysfunctions in a XLAG case with a novel mutation of the ARX gene, and performed immunohistochemical evaluation of the diencephalons in autopsy brain. A 1-year-old boy showed intractable epilepsy, persistent diarrhea and disturbed temperature regulation. This case had abnormalities in circadian rhythms and pituitary hormone reserve test. He died of pneumonia. The globus pallidus and subthalamic nucleus was not identified, and the putamen and thalamus were dysplasic. The suprachiasmatic nucleus was absent. A few neurons immunoreactive for vasopressin seemed to form the ectopic supraoptic-like nucleus. The diencephalons were disturbed differently in each sub-region, and the changes may be related to various hypothalamic dysfunctions.
Miyata
Rie
R
Department of Pediatrics, Tokyo Kita Shakai Hoken Hospital, 4-17-56 Akabanedai, Kita-ku, Tokyo, Japan. r-miyata@tokyokita-jadecom.jp
Hayashi
Masaharu
M
Miyai
Kentaro
K
Akashi
Takumi
T
Kato
Mitsuhiro
M
Kohyama
Jun
J
D001344:Autopsy; D001479:Basal Ganglia / Q000002:abnormalities; D001833:Body Temperature Regulation / Q000235:genetics; D002828:Choristoma / Q000473:pathology; D021081:Chronobiology Disorders / Q000209:etiology; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D004827:Epilepsy / Q000209:etiology; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007027:Hypothalamic Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D007031:Hypothalamus / Q000002:abnormalities* / Q000503:physiopathology; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D010900:Pituitary Diseases / Q000235:genetics / Q000503:physiopathology; D011014:Pneumonia / Q000209:etiology; D013495:Supraoptic Nucleus / Q000002:abnormalities / Q000378:metabolism; D013788:Thalamus / Q000002:abnormalities; D014157:Transcription Factors / Q000235:genetics
C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors