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. Posterior fossa structures, bilateral thalami, and basal ganglia were normal. A large interhemispheric cyst was seen in mid posterior interhemispheric region measuring 6.5 × 2.6 × 3.9 cm. There was corpus callosum agenesis with parallel orientation of lateral ventricles. MRI brain showed abnormal gyral pattern with smooth broad gyri suggestive of Lissencephaly pachygyria spectrum. Normal male karyotype (46 XY) was seen on chromosomal analysis (46, XY). Neither uterus nor testis were seen in USG abdomen. 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). Intermittent episodes of hypothermia were present during the hospital stay. Patient had hypoglycemia intermittently but seizures persisted even blood sugar levels were normal. Other biochemical investigations like serum electrolytes including ionized calcium, liver, as well as kidney function tests were normal. Sepsis screen was negative in the patient. There were no palpable gonads in bilateral inguinal region. He had a micropenis (5 mm) with a single urethral opening and bilateral cryptorchidism. The baby was hypotonic, lying in semi-flexed posture with poor cry and suck reflex. Anterior Fontanelle was at level, heart and lung sounds were normal and there was no organomegaly. The baby was dull looking and vital signs were normal.
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On physical examination, the newborn had birth weight of 2.2 kg (small for gestational age), length of 51 cm (50 th percentile), and occipitofrontal circumference of 32 cm (microcephaly). The convulsions were refractory to anticonvulsant drugs such as phenobarbital, phenytoin, and levetiracetam. Baby was having refractory subtle as well as multifocal clonic seizures. Baby was second in order and the first sibling was normal on physical examination with no congenital anomalies. There was no sepsis setting in mother and no history of birth asphyxia in the baby. Antenatal history was normal and the baby was born by normal vaginal delivery. If it shóws more than oné value, play thé game again, gáin some items ánd search again.A 4-day-old full-term male newborn presented to pediatrics emergency with history of multiple seizures and poor intake since day 3 of life. Input the number of coins or your score it and tap search icon. Then tap ón game hacker icón it will shów a search bóx. Open the gamé which you wánt to hack ánd play it. Game Hacker wiIl minimize and yóu will see á logo of gamé hacker floating ón top left cornér of the scréen.
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