A 4 year old girl who was born prematurely presents with difficulty walking. She also has spastic gait, chorea, athetosis, & increased motor tone. What is your diagnosis?
Delayed motor skills.
Motor defecit, unknown etiology.
More common in premies (due to periventricular hemorrhage affecting white matter).
Corticospinal tract affected = altered leg movement.
Spastic gait: clumsy & stiff.
Chorea: abrupt, jerky movements of limbs.
Athetosis: slow, withering, continuous movements.
A 19 year old woman presents with decreasing performance in college & an abnormal eye exam. She has been clumsy with her hands, trips while walking, has decreased strength, resting tremors, & Kayser-Fleischer Rings.
Wilson's Disease: hepatolenticular degeneration.
Autosomoal recessive disease.
Leads to accumulation of copper in the blood.
Copper stones are deposited in the liver, brain, & eyes.
Hepatitis is generally the presenting symptom = may lead to cirrhosis.
A ten year old boy is seen by a neurologist because of progressive difficulty walking & diminution of vision. The patients has a right foot deformity (pes cavus). He presented to a cardiologist with hypertrophic cardiomyopathy. He has an uncle that died of cardiac complications. He also presents with diabetes mellitus, ataxia, nystagmus, dysarthia, areflexia, positive Babinski sign, & decreasedsensations in the lower limbs.
Three tracts degenerate: pyramidal, dorsal, & spinocerebellar.
Ataxia with progressive involvement of all the extremities.
A 54 year old man was brought to the emergency room after 1 week of confusion & lethargy. He has a history of chronic alcohol abuse & poor eating habits. He is lethargic, not oriented, & has endgaze nystagmus. Labs show a thiamine deficiency.
Wernicke-Korsakoff Syndrome: cause by B1 deficiency.
Frequently seen in alcoholics & severely malnourished patients.
Triad of acute mental confusion, opthalmoplegia, & gait ataxia = CN VI.
A 21-year-old man presents to the emergency room after loosing consciousness 30 minutes ago. He has sustained rhythmic tonic-clonic contractions of his extremities since then with eye rolling, tongue bitting, & urinary incontince. He has not regained consciousness at any point. He has a known seizure disorder but has been non-complaint with his medications.
Status Epilepticus = neurological emergency.
Prolonged seizure activity can cause permanent brain damage.
In children, prolonged fever may also cause SE.
In adults it is often caused by strokes or withdrawal of anticonvulsants.
A 16-year-old bot presents with sudden loss of consciousness & muscle hypertonia, followed by rhythmic movements of the limbs with upward rolling of the eyes, tongue biting, & urinary incontince; he is in a state of confusion & lethargy.
Grand Mal Seizure.
Stereotpic rhythmic movements.
Prolonged post-ictal confusion.
May occur with no aura or warning.
A 16-year-old boy is brought to the physician by his mother, who reports two recent episodes during which she observed her son to be "out of it." He initially complained of an unpleasant smell, suddenly stopped talking & stared straight ahead, after which the patient was confused & sleepy. When he was an infant he had herpes encephalitis.
Complex Parital Seizures.
Involves loss of consciousness & frequently follows an auditory or olfactory aura.
Cerebral scar tissue may be focus of seizure activity.
Can still make basic verbal responses or follow simple motor commands.
Absence Seizure: staring into space with finger fumbling, lip smacking, & blinking.
Children 3 - 13 yo.
Petite mal seizures.
Febrile Seizure: due to high fever.
Older than 6 months, younger than 5 yo.
Loss of dopaminergic neurons in the basal ganglia.