Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia.

The ictal and interictal cerebral blood flow (CBF) were evaluated in a patient with right unilateral short lasting paroxysmal kinesigenic dyskinesia, by means of single photon emission computed tomography (SPECT). The patient was a 6 year old boy with no family history. During an attack, increased CBF was seen in the left thalamus. Subtraction of interictal CBF from ictal CBF disclosed a prominent increase in CBF in the left posterolateral part of the thalamus. This finding suggests that abnormal hyperactivity of thalamic neurons could be responsible for the pathophysiology of paroxysmal kinesigenic dyskinesia in this patient.

Neuropsychological changes after surgical treatment for temporal lobe epilepsy.

PURPOSE: The effect of unilateral temporal lobectomy on seizure frequency is well recognized, but little is known about the neuropsychological changes that occur after surgical treatment. We assessed neuropsychological status in 26 patients with an average age of 35 years before and after unilateral temporal lobectomy for medically intractable TLE. METHODS: Neuropsychological examination to assess cognitive function, memory, attention, visuospatial analysis, language, and emotional functions was performed preoperatively and at 1 month and 1 year after the surgery. RESULTS: At both 1 month and 1 year after the surgery, the patients had improved scores, compared with the preoperative scores, on the Wechsler Adult Intelligence Scale-Revised (WAIS-R: verbal IQ, performance IQ, and full-scale IQ), Wechsler Memory Scale-Revised (WMS-R: verbal, general, and delayed paired associates memory), and Raven Colored Progressive Matrices. In the Minnesota Multiphasic Personality Inventory (MMPI), significant decreases were observed at 1 year after the surgery in the scores for infrequency, hypochondriasis, psychasthenia, and schizophrenia. Patients in whom the seizures had been relieved postoperatively also had improved scores on the WAIS-R, WMS-R, and Raven Colored Progressive Matrices. CONCLUSIONS: These data suggest that neuropsychological improvement postoperatively is influenced by the reduction in the frequency of seizures after surgery.

[Shuddering attacks in four children].

Shuddering attacks (SA), an uncommon benign disorder occurring during infancy or early childhood, should be distinguished from epileptic seizures. The attacks are shivering movements occurring daily for several seconds without impairment of consciousness. SA are regarded as an early premature manifestation of essential tremor (ET), and the provoking mechanism is the same between them. There are case reports of SA, but none from Japan. We studied the pathophysiology of SA in four children aged between 8 and 14 months using a video-EEG monitoring system. In one patient, the shuddering movements, as indicated by contaminating electromyogram during electroencephalography, was almost as frequent as that of ET. SA decreased in frequency or disappeared in all our patients. One of them showed immature brain development on MRI and had relatives with epilepsy. Another showed flattened sella turcica. Although previous reports suggest that SAs are benign and require no investigation, children with SA could have borderline problems related to the development of the nervous system.

[A case of Sanfilippo syndrome type C: long-term clinical course and treatment].

We reported a Japanese girl with the Sanfilippo syndrome type C. She was born to healthy parents married consanguineously. She began to deteriorate and became disoriented at the age of 6 year and 8 month. She also developed sleep problems and dysphagia. Physical examination revealed short stature, slightly coarse facial features, contracture of the PIP joints and hypertrophy of the tonsils. There was neither hepatomegaly nor corneal clouding. Laboratory examination demonstrated an increase in urinary excretion of glycosaminoglycan. Electrophoresis of the urinary glycosaminoglycans indicated that heparan sulfate was the predominant component. Enzymatic assay using her skin fibroblasts demonstrated a complete deficiency of acetyl-CoA: a-glucosaminide N-acetyltransferase activity. Low dose erythromycin alleviated hypertrophy of her tonsils, thereby improving dysphagia.