PMID- 18842366 OWN - NLM STAT- MEDLINE DCOM- 20090706 LR - 20090508 IS - 1872-7131 (Electronic) IS - 0387-7604 (Linking) VI - 31 IP - 6 DP - 2009 Jun TI - Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). PG - 456-60 LID - 10.1016/j.braindev.2008.08.008 [doi] AB - 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. FAU - Miyata, Rie AU - Miyata R AD - Department of Pediatrics, Tokyo Kita Shakai Hoken Hospital, 4-17-56 Akabanedai, Kita-ku, Tokyo, Japan. r-miyata@tokyokita-jadecom.jp FAU - Hayashi, Masaharu AU - Hayashi M FAU - Miyai, Kentaro AU - Miyai K FAU - Akashi, Takumi AU - Akashi T FAU - Kato, Mitsuhiro AU - Kato M FAU - Kohyama, Jun AU - Kohyama J LA - eng PT - Case Reports PT - Journal Article DEP - 20081007 PL - Netherlands TA - Brain Dev JT - Brain & development JID - 7909235 RN - 0 (ARX protein, human) RN - 0 (Homeodomain Proteins) RN - 0 (Transcription Factors) SB - IM MH - Autopsy MH - Basal Ganglia/abnormalities MH - Body Temperature Regulation/genetics MH - Choristoma/pathology MH - Chronobiology Disorders/etiology MH - Classical Lissencephalies and Subcortical Band Heterotopias/genetics/*pathology/physiopathology MH - Epilepsy/etiology MH - Fatal Outcome MH - Genetic Predisposition to Disease/genetics MH - Genitalia, Male/*abnormalities MH - Homeodomain Proteins/genetics MH - Humans MH - Hypothalamic Diseases/genetics/*pathology/physiopathology MH - Hypothalamus/*abnormalities/physiopathology MH - Infant MH - Male MH - Mutation/genetics MH - Pituitary Diseases/genetics/physiopathology MH - Pneumonia/etiology MH - Supraoptic Nucleus/abnormalities/metabolism MH - Thalamus/abnormalities MH - Transcription Factors/genetics EDAT- 2008/10/10 09:00 MHDA- 2009/07/07 09:00 CRDT- 2008/10/10 09:00 PHST- 2008/06/04 00:00 [received] PHST- 2008/07/16 00:00 [revised] PHST- 2008/08/05 00:00 [accepted] PHST- 2008/10/10 09:00 [pubmed] PHST- 2009/07/07 09:00 [medline] PHST- 2008/10/10 09:00 [entrez] AID - S0387-7604(08)00198-8 [pii] AID - 10.1016/j.braindev.2008.08.008 [doi] PST - ppublish SO - Brain Dev. 2009 Jun;31(6):456-60. doi: 10.1016/j.braindev.2008.08.008. Epub 2008 Oct 7.