What is Phenylketonuria?

Phenylketonuria is an amino acid metabolism disorder characterized by symptoms such as growth delay, intellectual development delay, tics, hyperreflexia, and eczema. Early treatment can prevent intellectual impairment. Typically, this condition should be prevented and detected early through avoiding consanguineous marriage and regular newborn screening.
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What is Refractory Epilepsy?

Refractory epilepsy refers to epilepsy seizures that remain uncontrolled despite receiving appropriate antiepileptic medication, with electroencephalogram (EEG) findings showing epileptic discharges or other abnormal waveforms, including infantile spasms.
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What is Tetralogy of Fallot?

Tetralogy of Fallot is a congenital heart disease characterized by symptoms such as cyanosis, difficulty breathing, hypoxic attacks, and crouching. Treatment methods include corrective surgery for the tetralogy and palliative surgery, with the specific course of treatment depending on the patient’s condition.
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What is the Deal with Abnormal Hemispheric EEG?

A 5.5-year-old girl, with primary discharge in the right frontal and left occipital regions, showed no abnormalities on MRI. Hospitalized for 12 days with a suspected viral encephalitis, no clear diagnosis was made. Inquiring about the subsequent treatment and recovery.
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