Clonus present when eliciting reflexes

3 Hz spike and wave generalized discharges

Cerebellar tonsils > 5 mm below foramen magnum

Hyperpigmented, light brown, flat macule in a child with macrocephaly

Elevation of Isoleucine, leucine, valine

Impaired ability to estimate distance in muscular action (target overshoot or undershoot)

Centro-temporal spikes

Protrusion of the spinal cord and meninges from the spinal column forming a sac

Hypomelatonic ovoid macule with irregular margins, seen under woods lamp

Disease with low tyrosine levels and "musty odor"

What degree of strength is described here? movement possible against gravity but not against resistance by the examiner

4-6 Hz generalized spike and polyspike and wave discharges

Vermis hypoplasia, cystic dilation of the 4th ventricle and enlarged posterior fossa

Discoloration of the facial skin cause by a vascular abnormality

Severe elevation of ammonia in a newborn on the 3rd DOL with respiratory alkalosis

What is the name of this exam finding?
Contraction of both hip adductors when either knee jerk is elicited

Multiple seizures types, intellectual disability and slow spike and wave on EEG

Lack of midline brain cleavage with associated midline defects

Oval-shaped and nevoid, skin-colored with leathery texture

What is MELAS?

What is the name of the reflex?
Dilation of the ipsilateral pupil in response to pain applied to neck

High amplitude, focal spikes mostly in occipital region activated during sleep with emesis and pallor

Abnormal cleft in the cerebral hemispheres

Skin findings characterized by streaks or whorled areas of hypopigmentation and associated with epilepsy

Elevation of Very Long Chain Fatty Acids