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. 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. 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.
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