Hahn, Andreas and Gross, C. and Uyanik, G. and Hehr, U. and Huegens-Penzel, M. and Alzen, G. and Neubauer, B. A. (2004) X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting. NEUROPEDIATRICS, 35 (3). pp. 202-205. ISSN 0174-304X
Full text not available from this repository. (Request a copy)Abstract
X-linked lissencephaly with abnormal genitalia (XLAG) is a rare disorder caused by mutations in the aristaless-related homeobox (ARX) gene. We report on the clinical data of a boy with a 1-bp deletion (790 delC) resulting in a frame shift in the ARX gene and prolonged survival until age 18 months. Similar to other patients, the boy showed postnatal microcephaly, hypothalamic dysfunction, intractable neonatal seizures, and chronic diarrhoea. In addition, he suffered from exocrine pancreatic insufficiency and renal phosphate wasting became apparent from age 5 months, both of which have not been described previously in XLAG. This allows us to speculate that the phenotype of XLAG is more complex than hitherto known and may include renal phosphate wasting which might not have been observed in other patients due to early death.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ABSENT CORPUS-CALLOSUM; AMBIGUOUS GENITALIA; MENTAL-RETARDATION; ARX; MUTATIONS; EPILEPSY; X-linked lissencephaly; abnormal genitalia; renal phosphate wasting; intractable epilepsy; chronic diarrhoea |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 20 Jul 2021 05:24 |
| Last Modified: | 20 Jul 2021 05:24 |
| URI: | https://pred.uni-regensburg.de/id/eprint/37610 |
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