Intermittent episodes of hypothermia were present during the hospital stay. Levels of 17 OH progesterone (1.52 ng/ml), TSH (1.52 mIU/L), Cortisol (6.80 mcg/dl) were normal and testosterone was not detectable (0.00 ng/ml). Neither uterus nor testis were seen in USG abdomen. Normal male karyotype (46 XY) was seen on chromosomal analysis (46, XY). MRI brain showed abnormal gyral pattern with smooth broad gyri suggestive of Lissencephaly pachygyria spectrum. There was corpus callosum agenesis with parallel orientation of lateral ventricles. A large interhemispheric cyst was seen in mid posterior interhemispheric region measuring 6.5 × 2.6 × 3.9 cm.
Posterior fossa structures, bilateral thalami, and basal ganglia were normal.
XLAG is a rare and severe malformation of the brain cortex with abnormal neuronal migration caused by mutations of the aristaless-related homeobox (ARX) gene, which is expressed in the brain and testes tissues.
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