Juvenile Huntington's disease: report of one case.

Huntington's disease (HD) is caused by mutation of the IT 15gene (chromosome 4p16.3), with elongation of (CAG) n repeats. Most juvenile Huntington disease patients acquire the genetic defect through paternal transmission due to amplification of the repeat number during spermatogenesis, and thus causing early age of disease onset and increased disease severity. We here report one case that instead of choreoathetosis presents symptoms of developmental regression, such as seizure and rigid/bradykinesia. EEG showed occipital dominant 4-5 Hz high-amplitude spike-wave activities. MRI showed advanced atrophy and abnormal increase in signal intensity on T2-weighted and proton-density-weighted images of the caudate nuclei and putamina early in the course. The clinical diagnosis is confirmed by PCR study of HD (CAG) n repeats. This is the first case of juvenile Hunington's disease reported in Taiwan.

Focal features in West syndrome indicating candidacy for surgery.

A subgroup of patients with West syndrome (WS) also have focal features, and some of these patients respond to surgical intervention. To determine the incidence of focal features in patients with WS and to establish the correlation of these features with outcome, all patients with WS treated in the Epilepsy Unit of the Children's Hospital (Boston, MA) during the years 1989 to 1992 were retrospectively evaluated. Focal features included partial seizures, hemiparesis, focal radiologic findings, asymmetric spasms, and lateralized hypsarrhythmia. The different focal features were later correlated with the natural history of the disease. Sixty-seven patients were included in the study. Sixty-six percent had asymmetric manifestations. Asymmetric spasms, hemihypsarrhythmia, and partial seizures combined with infantile spasms had significant association with asymmetric brain pathology. Focal features did not correlate with age of onset and outcome, but were associated with etiology. Eight of the nine patients who underwent epilepsy surgery had at least two focal features or more. Two of the operated children had focal features in the absence of magnetic resonance imaging abnormalities, thus indicating the necessity for positron emission tomography, the results of which justified surgery.

Hypsarrhythmia: frequency of variant patterns and correlation with etiology and outcome.

To determine the frequency and significance of the EEG features of hypsarrhythmia, we analyzed the pre-ACTH records of 53 consecutive patients with infantile spasms for the severity of the following abnormalities: disorganization of background, slowing, high amplitude, spike activity, and for the presence or absence of each of the following patterns and variants: electrodecremental discharges, absence of normal sleep activity, relative normalization, hemihypsarrhythmia, burst suppression (BS), occipital hypsarrhythmia, interhemispheric asymmetry, and interhemispheric synchronization. We calculated a total score indicating the severity of the hypsarrhythmia for each record. The hypsarrhythmia variant patterns occurred frequently in up to 69% of the records. Patients with cerebral dysgenesis were more likely to have hemihypsarrhythmia or BS pattern persistent throughout the EEG. Patients with history of perinatal hypoxia-ischemia were more likely to have absence of normal sleep activity. The occurrence of each of the other variant patterns did not correlate with etiology. Favorable outcome did not correlate with the occurrence, or absence, of any of the variant patterns but was associated with faster background activity (< 75% delta), a lower total hypsarrhythmia score (< or = 10), and with absence of electrodecremental discharges on the pre-ACTH EEG. We conclude that variant patterns of hypsarrhythmia are frequent, generally do not correlate with prognosis, and thus are best included within the definition of hypsarrhythmia. The severity of the hypsarrhythmia, however, does have significant prognostic implications.

High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

The gene for Wilson disease (WD) has been cloned as a P type copper transporter gene (ATP7B). To elucidate the possible genetic mechanism for the diversity of clinical manifestations, we characterised 22 Taiwanese families with WD by microsatellite haplotyping of close DNA markers D13S314-D13S301-D13S316. We also screened for mutations of codon 778 in the transmembrane region. There were at least 15 haplotypes within eight broad subgroups observed among 44 WD chromosomes. Among the 22 unrelated patients, we found that six patients (27%) carried a codon 778 mutation. Nucleotide sequence analysis showed there were two different mutations: the previously reported Arg778Leu mutation in four patients and Arg778Gln, a new mutation, in two patients. The two different mutations of the same codon occurred in two distinct microsatellite haplotypes.

Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.

We report a 10-month-old male infant with Type 2 Gaucher's disease. In addition to gradual arrest of neurological development, laryngospasm, opisthotonus, and limb rigidity, he presented characteristic oculomotor apraxia. History taking revealed that he had had abnormal horizontal gaze and had to turn his head to follow an object instead of moving the eyes alone. His eyes were in a divergent position while he was in a deep coma; however, when consciousness improved, he could open eyes with neutral eye position. Due to the impairment of reflex saccades, the doll's eye phenomenon was not reliable in evaluating the brainstem function when he was in the comatose stage. His leukocyte glucocerebrosidase activity was very low, but the typical Gaucher cell was absent in the sample of bone marrow aspiration. Molecular analysis by amplification refractory mutation system (ARMS) screening proved that he was a homozygote for T1448C mutation. To our knowledge, the T1448C gene frequency of Chinese Gaucher's disease is high. Thus, the ARMS screening method is applicable for further genetic diagnosis of Chinese Gaucher patients. Finally, this successful genetic diagnosis makes it possible in the future to perform prenatal diagnosis.

Dyskinesia from manganism in a hepatic dysfunction patient.

A 14-year-old boy came to the neurological clinic because of involuntary movement. He represented a case of common variable hypogammaglobulinemia, with hepatosplenomegaly noted for 5 years and jaundice for 1 month. Neurological and laboratory examinations revealed choreoathetosis and hyperbilirubinemia, hypoalbuminemia, increased hepatic aminotransferase, and decreased indocyanine green clearance; as well as increased signal change over the globus pallidus, subthalamic area, internal capsule, tegmentum, brain stem and pituitary gland revealed by a brain magnetic resonance (T1-weighted) imaging study. A manganese study confirmed high body manganese loading. Trihexyphenidyl administration ameliorated the dyskinesia; however, the patient died from hepatic failure later. Though rare in incidence, manganese intoxication should be considered in cases with dyskinesia and the characteristic brain MRI findings. Even if no environmental exposure is involved, total parenteral nutrition, porto-systemic shunt and chronic hepatic dysfunction could lead to a heavy manganese load resulting in symptomatic manifestation.

Tuberous sclerosis with cardiac rhabdomyoma manifested by fetal bradycardia: report of a case.

This is a case of neonatal tuberous sclerosis associated with cardiac rhabdomyoma and manifested by fetal cardiac arrhythmia-bradycardia. The prenatal echocardiography showed multiple cardiac tumors which occupied the left and right ventricles. The largest one measured 5.2 cm in diameter. It was found to be 4.5 x 4.1 x 3.5 cm in size at autopsy. A postnatal cranial echogram showed multiple subependymal nodules. The patient expired after 7 hours of life. The autopsy findings confirmed the diagnosis. The mother of the patient had adenoma seb'aceum on the face and an ungual fibroma on the left little finger. Cranial computerized tomography revealed a small calcified tubercle.

Epilepsia partialis continua (Kojewnikow's syndrome): report of one case.

We describe a 12-year-old boy with EPC (Epilepsia Partialis Continua) who showed well localized myoclonic jerks in the left toes continuing for more than 19 months. Preceding partial clonic or tonic convulsions of the left leg or body were initially noted. Neurological examination disclosed mild muscle weakness of the left leg. During the course, neither mental deterioration nor progressive evolution was noted. Since the EEG revealed well defined midline central spike focus which represent the sensorimotor area of left leg and foot, we postulate that the pathophysiological mechanism of the EPC may be evoked by the focal epileptogenic activation of the motor cortex. EEG-EMG polygraphy proved the well localized myoclonic action potential volleys in the M. extensor hallucis longus of the left great toe. According to the clinical and electrophysiological findings, we classified our case into the group I of Bancaud's definition but failed to find out any demonstrable brain lesion throughout brain CT, MRI and angiography. Neurosurgical intervention is not practical for our case, and medical treatment gave somewhat improvement.