7 mnth old F with c/o Status Epilepticus and delayed develop
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Case Presentation

A 7 month old female child, 2nd product of second degree consanguineous marriage, with an uneventful perinatal history presented to our hospital with status epilepticus, delayed developmental milestones and regression of the achieved milestones. On initial examination, she was unconscious (Glassgow Coma Scale-5) and afebrile. Initial management aimed at controlling the seizures with Diazepam (i.v., 0.3 mg/kg stat) and Phenytoin (i.v., 20 mg/kg stat followed by 5 mg/kg per 12 hourly). Following control of seizures the child went into decerebrate posturing. The raised intracranial tension was treated with Mannitol (i.v., 5 mg stat). Her pulse was 154 beats per minute, respiratory rate 36 cycles per minute and blood pressure 84/46 mm Hg. Her weight was 5 kg and height 62 cms. CNS examination showed increased tone in the lower limbs. Deep tendon reflexes were exaggerated with bilateral Babinski sign. Pupils were dilated and sluggishly reacting to light. Fundus examination and visual evoked potentials were normal. After an hour of admission, she became apnoeic and was put on ventilator. The above clinical findings were highly suggestive of a neurodegenerative disorder and the patient was further investigated....

https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-36-62
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