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Confabulation: the unintentional generation of fabricated information to fill in gaps (patients who exhibit this believe the information is true [ie, they are not purposefully lying]/honest lying)
Anosognosia: an unawareness of one's condition (lack of deniel)
Upper motor neuron lesions (ie, internal capsule stroke) cause contralateral weakness with clasp-knife spastic rigidity, hyperreflexia, and a positive Babinski sign. These lesions damage the pyramidal motor system (eg, corticospinal tracts), which runs from the precentral gyrus (primary motor cortex) through the internal capsule to the brainstem and spinal cord.
A 6-month-old infant was brought to our hospital by his parents because they were concerned that the child's head had been getting progressively larger and that he had been refusing feeds. The parents also said that their child had a fever and was vomiting; his problems had been getting worse over the previous 2 months. The infant had no history suggestive of congenital heart disease or immunosuppression, and he had not received any vaccinations. He was born by normal vaginal delivery, and the pregnancy was uncomplicated. The child had reached all the normal developmental milestones for age until the current problems began. On examination he was conscious but moderately malnourished and healed boils were seen over his scalp. His anterior fontanelle was tense and full, and his occipitofrontal circumference was 47 cm—between the 98th and the 99th percentiles. He was febrile with an axillary temperature of 38·9°C. Examination of his eyes found them to have a persistent downward gaze—known as the sun-setting sign—and his pupils were 4 mm in diameter and sluggishly reactive to light (figure). He had muscle weakness in his left arm and left leg, with power recorded as 1/5.
Malignant hyperthermia (features)
Gerstmann Syndrome (Dominant Parietal Cortical Lesion/Stroke)
Stoneman Syndrome
Fragile X Syndome
Which gene mutation? Which Chromosome? Inheritance Pattern?
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