Rett syndrome is a progressive encephalopathy in females that appears during the first 18 months of the life. A few neurophysiologic investigations of peripheral nerve and electrodiagnostic studies in Rett syndrome has proposed mild distal axonopathy. However, the electrodiagnostic study shows demyelination rather than axonopathy in presenting patient with Rett syndrome. An 11-year-old female had normal birth history, no perinatal problems and normal development until age of 18 months. Developmental regression was recognized by her parent and slowly progressed. At physical examination at her age of 7 years, stereotypic hand movements was present and she could walk with frequent fall. Brain Computed Tomography was not specific and electrodiagnostic study revealed slow conduction velocity in all nerves tested. After follow-up for 4 years, hand wringling was remained and she became to be unable to walk alone. Electrodiagnostic study revealed as follows; 1) Compound muscle action potentials and sensory nerve action potentials in all the nerves tested revealed prolonged distal latency with normal amplitude. 2) F waves were evoked with prolonged latency in the all the nerves tested. 3) H-reflex were absent, bilaterally. 4) Facial motor conduction study and blink reflex showed normal findings. 5) Auditory evoked potential and visual evoked potential studies showed normal findings. These electrodiagnostic study indicates demyelinating neuropathy.
Action Potentials ; Blinking ; Brain ; Child ; Demyelinating Diseases ; Electromyography ; Evoked Potentials, Auditory ; Evoked Potentials, Visual ; Female ; Follow-Up Studies ; H-Reflex ; Hand ; Humans ; Parents ; Peripheral Nerves ; Physical Examination ; Reproductive History ; Rett Syndrome

Motor point block with phenol solution has the advantage of technical ease, bedside performance, and repetition as necessary in reducing spasticity. To our knowledge, however, complicating stress fracture that occur during the course of treatment after motor point block has not been described. We report the occurance of stress fracture of the head of right talus after motor point block with phenol solution. A 17-year-old boy had a gait disturbance due to excessive plantar flexion and inversion of right ankle by spasticity. Percutaneous motor point block to right tibialis posterior and right gastrocnemius was done with 7% aqueous phenol solution. Just after the block, he began to bear his weight on right heel and physical therapy including gait training was started. He complained of right ankle pain a week after resumption of weight-bearing while walking. Bone scan and magnetic resonance imaging of right ankle revealed stress fracture of talus of right foot. This case illustrated that physiatrists involved in the management of such patients should be aware that secondary stress fractures can occur.
Adolescent ; Ankle ; Foot ; Fractures, Stress* ; Gait ; Head ; Heel ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle Spasticity ; Phenol* ; Talus* ; Walking ; Weight-Bearing

The study of blink reflexes was carried out to demonstrate the correlations, if there were, between the stage of diffuse axonal injury(DAI) and the abnormality of blink reflexes. The blink reflex was recorded in 20 healthy adult subjects and 22 patients with DAI who were classified according to Adams' classification(DAI I; 7, DAI II; 9 and DAI III; 6). The latencies and amplitudes of R1 and R2 in patients with DAI were compared with those of healthy subjects. The results were as follows; 1) In 20 subjects of patient group, the latencies of R1 were all within a normal range. In 2 subjects, the difference in latencies between the two sides was above 1.4 msec. 2) In 15 subjects, R2 was absent or delayed, and reduced in the size of amplitude in all. Nine were affected bilaterally, and 4 were unilaterally. 3) Seventy one percent of patients in each stage represented abnormal findings. 4) There were no correlations between the DAI stage and the blink reflex. This study demonstrated that the polysynaptic R2 was more profoundly suppressed than the oligosynaptic R1 in a diffuse axonal injury because of a loss or decrease of suprapontine facillitation, which influenced the trigeminal spinal complex and the interneuron of lateral reticular formation.
Adult ; Axons ; Blinking* ; Diffuse Axonal Injury* ; Humans ; Interneurons ; Reference Values ; Reticular Formation