Thrombotic stroke in a child with diarrhea-associated hemolytic-uremic syndrome with a good recovery.

A boy aged 3.5 years with post-diarrheal hemolytic-uremic syndrome (HUS) was referred to our hospital because of convulsion and stupor. He had been admitted to a regional hospital with a 3-day history of bloody diarrhea, colic abdominal pain and fever. Two days later, he had complained of generalized seizures and oliguria. On admission, he developed anuria, and serum blood nitrogen and creatinine increased to 56 mg/100 ml and 2.8 mg/100 ml, respectively. Platelets decreased to 42,000/microl. Under the diagnosis of HUS, a continuous hemodiafiltration treatment had to be instituted. Computed tomography of his head at hospital day 5 revealed abnormal low density area of infarction with edema in both the basal ganglia involving with the posterior limb of internal capsule. Serum titer of IgM antibody to Escherichia coli O157 showed positive value. Although his anuria and stupor persisted over 10 days, he recovered without serious complications. These clinical observations may indicate that patients with similar lesions do not necessarily have serious morbidity.

Visual symptoms in epilepsy and migraine: localization and patterns.

PURPOSE: To clarify differences in the localization of visual symptom patterns in epilepsy and migraine, we analyzed patient-generated illustrations of visual symptoms. METHODS: Patients were asked to draw their visual symptoms from memory using marker pens of 12 colors. All patients illustrated their symptoms on a template sheet representing the binocular visual field. We analyzed a total of 67 illustrations from 54 patients aged 6-40 years: 28 with epilepsy, 23 with migraine, and 3 with migraine-epilepsy syndrome. RESULTS: With respect to positive visual manifestations, those of epileptic patients were predominantly centrally localized (20 of 24, 83%), whereas those of migraine patients were predominantly peripherally localized (10 of 13, 77%) (p < 0.0001). With respect to negative visual symptoms, those in epilepsy were commonly diffuse (10 of 14, 71%) compared with those in migraine, which were peripheral (9 of 12, 75%) (p < 0.05). CONCLUSIONS: Results of this study suggest that the localization of visual symptoms differs between epilepsy and migraine.

[Recurrent tongue biting due to hypnic myoclonia in infancy].

We report a 15-month-old female infant who had recurrent tongue biting due to hypnic myoclonia. She began to bite her tongue and bleed when she was 9 months old. The tongue biting was accompanied by generalized myoclonus and was seen only during drowsiness. On admission at 15 months of age, she was observed by video-EEG monitoring. There were hypnic jerks with powerful closure of the mouth and severe screaming, but no accompanying evidence of epileptic discharges. The tongue biting with hypnic myoclonia disappeared spontaneously at 22 months of age, and was considered to be an age-dependent phenomenon related to the maturation of the brain and to the development of oral functions.

[Case report of muscle cramp versus focal epilepsy].

We report here a boy suffering from muscle cramps in the right upper extremity. At 32 days of age, he developed purulent meningitis followed by paresis of the right upper extremity. From infancy he had intermittent episodes myoclonus-like involving the right hand. Since he also had true epileptic seizures with loss of consciousness, ocular deviation, and vomiting at 6 and 8 years of age, he was treated with anti-epileptic drugs as therapy for focal motor seizures. At 6 years of age, these episodes increased in frequency. The cramps spread from the right hand to involve the entire upper extremity with pain. At the age of 10, he was referred to Hirosaki University Hospital and was admitted. Using closed circuit television with continuous EEG and EMG monitoring we observed during his episodes repeated EMG abnormalities consisting of continuous discharges of polyphasic motor unit potentials, but no epileptic EEG discharges. We diagnosed these episodes as muscle cramp. His muscle cramps were controlled by medication with muscle relaxants and Chinese medicines. This case illustrates that the differential diagnosis between muscle cramps and epileptic seizures is important for proper treatment.

[Intraoperative electrophysiological monitoring for functional preservation of the cauda equina during lumbosacral surgery].

Adequate electrophysiological techniques to monitor function of the cauda equina have been proposed for surgery in patients with lumbosacral lipoma or myeloschisis. Motor fibers were identified by electrical stimulation in the operating field with bipolar rectangular impulses of 200 mu sec duration at 2 Hz under 5 mA and compound muscle action potentials (CMAPs) recorded from the leg and anal muscles. By recording CMAPs from the tibialis anterior, the biceps femoris, the gastrocnemius, and the external anal sphincter muscles, all of the roots from the fourth lumbar to the fourth sacral segment were continuously monitored. To spare recording channels, recordings were obtained from the right versus the left side. In our institute, 5 patients have undergone lumbosacral surgery while using this monitoring system, and the results indicated that there was no postoperative neurological exacerbation in any of the cases. According to a combination of the CMAPs produced by stimulation, the segment of the stimulated motor root could be identified electrophysiologically. Monitoring of somatosensory evoked potentials was not performed because this would have required too much time and would have prolonged surgery. However, some sensory fibers, which appeared to be posterior roots of the cauda equina on intraoperative inspection, could be identified indirectly with CMAPs recording because of current spreading from the stimulation to motor fibers.

Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance.

A 12-month-old girl with delayed developmental milestones, due to muscle hypotonia and weakness from early infancy, exhibited type 2 fiber hypoplasia. A muscle biopsy specimen disclosed type 1 fiber predominance and type 2B fiber deficiency compatible with congenital myopathy. During the following 4 years, she continued to have mild muscle weakness, but no mental retardation. Her mother had similar symptoms from early infancy with minimal progression. Although type 2 fiber hypoplasia is a non-specific finding in various diseases, it may be a specific finding in a limited number of patients with hereditary congenital non-progressive myopathy.

Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study.

We reported a 3-year-old girl with myoclonus epilepsy associated with ragged-red fibers (MERRF) who was afflicted with recurrent pain attacks and allodynia on the right side of the body. Although magnetic resonance imaging showed normal intensity in the thalamus, single-photon emission computed tomography (SPECT) revealed hypoperfusion in the thalamus. Somatosensory evoked potentials showed delayed early cortical responses, particularly on right median nerve stimulation. The parenteral administration of cytochrome c with flavin mononucleotide and thiamine diphosphate abolished the intolerable pain. This clinical improvement was objectively supported by the results of SPECT and neurophysiological findings. These observations suggested that a dysfunction of the thalamus was responsible for her pain and that cytochrome c therapy was of benefit for this symptom.

Nondystrophinopathic muscular dystrophies including myotonic dystrophy.

The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants. Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.

Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report.

We report a female infant with non-Fukuyama-type congenital muscular dystrophy with merosin deficiency. She manifested marked hypotonia and muscle weakness from the neonatal period, with an elevated creatine kinase concentration. Her motor developmental milestones were markedly delayed; however, her intellectual development was normal. Although cranial computed tomography (CT) at 3 months of age was normal, subsequent CT at 16 months of age demonstrated diffuse, abnormal white matter lucencies. Muscle biopsy findings at 16 months of age were compatible with those of congenital muscular dystrophy. In addition, no muscle fibers were immunostained by the merosin antibody. The patient died of pneumonia at 23 months of age. These clinical symptoms and CT findings are similar to those described in patients with merosin-negative congenital muscular dystrophy in European countries.

Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome.

Cardiocrome, containing cytochrome c, flavin mononucleotide and thiamine diphosphate, was administered intravenously for 22 months to a patient with Kearns-Sayre syndrome. This combined therapy alleviated the patient's easy fatigability, motor disability, corneal edema and chilblains, but was not effective for his ophthalmoplegia, blepharoptosis or hearing loss. Truncal ataxia, dysphagia and an atrioventricular block appeared even with this therapy. Although the abnormal distribution of cerebral blood flow demonstrated by single photon emission computed tomography was improved, serial cranial magnetic resonance imaging and electrophysiological examination revealed progressive changes. In conclusion, this therapy was favorably effective for impaired skeletal muscle function and corneal edema, but not for ocular movements, central nervous system symptoms or cardiac conduction abnormalities, because irreversible degeneration had probably occurred in these organs.

Basement membrane abnormality in merosin-negative congenital muscular dystrophy.

In muscle biopsy specimens from three patients with merosin-negative congenital muscular dystrophy (CMD), there was marked variation in fiber size with evidence of necrotic and regenerating processes and with marked interstitial fibrosis. No muscle fibers or intramuscular nerves stained with merosin antibody. On electron microscopy, the basement membrane of all the muscle fibers was very poorly discernible and there were occasional disruptions, while the basement membrane of the Schwann cells was well preserved. On the other hand, the sarcolemmal basement membrane in merosin-positive CMD was well preserved even in patient with severe interstitial fibrosis. It remains to be determined how the defective basement membrane in merosin-negative CMD induces defective sarcolemma and eventual fiber necrosis.

Persistent chorea following cardiac surgery for congenital heart disease.

We describe a 6 year old girl with chorea following cardiac surgery, the first such report in Japan. The radical operation for total anomalous pulmonary venous return was carried out at the age of 11 months under hypothermia. Seven days after the operation, a sudden onset of irritability, dysphagia, chorea, generalized, hypotonia, and complete external ophthalmoplegia were seen. These symptoms diminished gradually, but chorea remained. We speculated that the cause of chorea arose from the cardiac surgery under hypothermia. It is necessary to consider 'cardiac surgery' as one of the triggers of certain movement disorders including chorea. We tried treatment with haloperidol, pimozide, and several other drugs; only pimozide was effective in decreasing chorea without any side-effects.

[Mismatch negativity in patients with multiple and severe handicaps].

Mismatch negativity (MMN) of the event related potential (ERP) is generated when patients can discriminate two different kinds of stimuli even if he or she is not conscious of their differences. The authors examined auditory ERPs of passive paradigm in 16 patients with severe multiple handicaps. All patients showed no or scarce clinical response to human voices or environmental sounds. This study investigated whether they showed MMN, since it is hard to evaluate their auditory perception clinically. Auditory stimuli were the tone bursts of 700 and 1,000 Hz in frequency offered at a 4:1 occurrence. Nine of 16 patients showed a definite N2 wave followed by an N 1 wave. The latency of the N 2 wave ranged from 150 to 596 milliseconds after the onset of the target stimuli. This N 2 was considered compatible with mismatch negativity (MMN) in healthy patients. These results suggest that the patients could discriminate subtle difference in two kinds of tones, although their responses to auditory stimuli were very poor.