PMID- 15248105 OWN - NLM STAT- MEDLINE DCOM- 20041019 LR - 20080116 IS - 0174-304X (Print) IS - 0174-304X (Linking) VI - 35 IP - 3 DP - 2004 Jun TI - X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting. PG - 202-5 AB - 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. FAU - Hahn, A AU - Hahn A AD - Department of Neuropediatrics, University of Giessen, Giessen, Germany. Andreas.Hahn@paediat.med.uni-giessen.de FAU - Gross, C AU - Gross C FAU - Uyanik, G AU - Uyanik G FAU - Hehr, U AU - Hehr U FAU - Hugens-Penzel, M AU - Hugens-Penzel M FAU - Alzen, G AU - Alzen G FAU - Neubauer, B A AU - Neubauer BA LA - eng PT - Case Reports PT - Journal Article PL - Germany TA - Neuropediatrics JT - Neuropediatrics JID - 8101187 RN - 0 (ARX protein, human) RN - 0 (Homeodomain Proteins) RN - 0 (Phosphates) RN - 0 (Transcription Factors) SB - IM MH - Abnormalities, Multiple/*diagnosis/genetics MH - Cerebral Cortex/*abnormalities MH - Exocrine Pancreatic Insufficiency/diagnosis/genetics MH - Genes, Homeobox/genetics MH - Genetic Diseases, X-Linked/*diagnosis/genetics MH - Homeodomain Proteins/genetics MH - Humans MH - Infant, Newborn MH - Kidney/metabolism MH - Male MH - Phenotype MH - Phosphates/metabolism MH - Transcription Factors/genetics MH - Urogenital Abnormalities/*diagnosis/genetics MH - Wasting Syndrome/*diagnosis/genetics EDAT- 2004/07/13 05:00 MHDA- 2004/10/20 09:00 CRDT- 2004/07/13 05:00 PHST- 2004/07/13 05:00 [pubmed] PHST- 2004/10/20 09:00 [medline] PHST- 2004/07/13 05:00 [entrez] AID - 10.1055/s-2004-817955 [doi] PST - ppublish SO - Neuropediatrics. 2004 Jun;35(3):202-5. doi: 10.1055/s-2004-817955.