Masutomo Miyao

The use of intravenous immunoglobulin in Miller Fisher syndrome

We report a patient with Miller Fisher syndrome who was treated with an intravenous high-dose of immunoglobulin. This syndrome is considered to be a benign variety of acute inflammatory demyelinating polyneuropathy (Guillain-Barré syndrome). However, there have been several reports of the need for ventilatory support and a few cases have had a fatal outcome. We observed a case of progressive Miller Fisher syndrome in a 3-year-old boy. Following 2 episodes of apnea lasting about 50 s each, he was treated with intravenous immunoglobulin (400 mg/kg/day) for 5 consecutive days. His respiratory state, general muscle strength, truncal ataxia and emotional state improved remarkably after this therapy.

Acute relapsing encephalopathy mimicking acute necrotizing encephalopathy in a 4-year-old boy

A 4-year-old boy showed two episodes of encephalitis/encephalopathy involving disturbed consciousness, convulsion, and paresis associated with the elevated levels of protein and myelin basic protein of the cerebrospinal fluid. MRI studies of the brain revealed symmetrical lesions in the brain stem and thalami at the first episode, and additional lesions were found in the cerebellum involving both the gray and white matter in the second episode. The intensities of MRI lesions were low in T I and high in T2. These episodes were followed by an elevation of the anti-viral antibody titers, for influenza A virus during the first episode and for adenovirus during the second. In the second episode, intravenous methylprednisolone therapy resulted in rapid improvement of his neurological signs.

Pontocerebellar Hypoplasia Associated with Infantile Motor Neuron Disease (Norman's Disease)

A Japanese female, floppy since birth, died at the age of 1 year and 10 months. Fasciculation of the tongue, neurogenic patterns on an electromyograph, and an empty posterior fossa on a cranial computerized tomogram suggested a motor neuron disorder resembling Werdnig-Hoffmann disease with cerebellar hypoplasia. Autopsy revealed a very small cerebellum and brain stem. The cerebellar cortex showed thin molecular and granular layers with total absence of Purkinje cells. Degeneration of the motor neurons with central chromatolysis, a change typical of Werdnig-Hoffmann disease, was noted throughout the anterior horn of the spinal cord as well as in the motor nuclei of the brain stem. The clinical features and pathological findings of this case were almost identical with those first detected and described by Norman in 1961. Six similar autopsy cases have been reported since the original description. In addition to pontocerebellar hypoplasia, the presence of severe mental retardation and a probable autosomal recessive inheritance make the disease a distinct entity, which we have called Normans disease.

P300 as indicator of effects of prophylactic cranial radiation

In order to assess the late adverse effects of cranial radiation on the central nervous system, 33 children with acute lymphocytic leukemia were examined through event-related potential P300, brain response analysis. P300 latency was significantly prolonged in children who received both prophylactic cranial radiation and intrathecal methotrexate. Although a longitudinal study is necessary, we believe that P300 is useful in the assessment of the adverse effects of cranial radiation in children with acute lymphocytic leukemia.

Ultrasonography and magnetic resonance imaging in Leigh disease

An infant with Leigh disease, who was the younger sister of a similarly affected infant, had been examined before the onset of the disease. Ultrasonography revealed hyperechoic lesions in the putamen and caudate nucleus during the preclinical stage. At onset, these changes extended into the cerebral cortex and medulla. These lesions were also detected by T2-weighted magnetic resonance imaging (MRI) as areas of increased signal intensity. Her brother demonstrated the same ultrasonographic results; cranial computed tomography disclosed low-density areas in the basal ganglia which were detected as hyperechoic lesions by ultrasonography. These findings suggest that ultrasonography is useful in detecting early intracranial lesions in Leigh disease.

Two-dimensional ultrasonography of the brain: its diagnostic usefullness in herpes simplex encephalitis and cytomegalic inclusion disease

We have used brain ultrasonography in diagnosing and following up two infants, one with herpes simplex encephalitis and the other with cytomegalic inclusion disease. It was found that this technique was very useful to observe the changes of the brain parenchyma such as cystic degeneration and periventricular calcification. Also because it is non-invasive and an easy procedure, ultrasonography can be applied even for infants in critical condition when needed.

Multi-institutional survey of the rett syndrome in Japans

The results of the first multi-institutional survey of the Rett syndrome in Japan are reported. The survey was performed during 1985 and 1986. Eighty-nine cases were collected, of which 54 cases were confirmed to have the Rett syndrome. The ages of the patients ranged between 1 and 26 years. The clinical onsets occurred after 18 months of age in 28 cases, and before the age of one year in 26. No familial cases nor consanguinity was found. The incidence of perinatal abnormalities among the patients was not significantly higher than in other diseases in which no perinatal factors are involved.

Blink induced centrotemporal spikes in benign childhood epilepsy with centrotemporal spikes

A 10 year old girl with benign childhood epilepsy with centrotemporal spikes showed centrotemporal spikes induced by blinking even in a dark room. Spikes could not be induced by photic stimulation, eye closure, eye movement, eye deviation, or passive blinks. There have been no previous reports of spikes induced by blinks in benign childhood epilepsy with centrotemporal spikes.

Cockayne syndrome complicated by acute subdural hemorrhage

Cockayne syndrome complicated by acute subdural hemorrhage Hide0 Shimoizumi “jb, Mika Matsui a, ‘, Shigeko Ito “24 Masutomo Miyao ‘jb and Shigeichi Kobayashi b (” Tochigi Prefectural Hospital and Welfare Center for the Crtppled. Tochigi; b Department of Pediatrics. Jichi Medical College, Tochigi, Japan) We describe a patient with Cockayne syndrome who developed an acute cerebral hemorrhage as a late complication with rapid clinical deterioration. Case report: A lZyear-old boy was the term product of an uncomplicated pregnancy and delivery. He was referred to an institution for handicapped children at 1 year 2 months of age because of his motor delay. He was diagnosed as having Cockayne syndrome on the basis of stunted growth, special facial features, rigid muscle tone and skin photosensitivity. He began to walk at 2 years of age, but became unable to walk after 3 years 6 months of age. He was referred to our hospital at 6 years of age. On examination he was found to be a cachectic dwarf (BH 86.5 cm, -6.5 SD) with microcephalus (HC 44.0 cm, 5.1 SD), multiple joint contractures, deafness and retinal pigmentary abnormalities. He could sit without aid but showed cerebellar ataxia, rigidity and hyperreflexia. Cranial CT showed atrophy of the cerebrum, cerebellum and brain stem, and calcification in the basal ganglia and paraventricular parenchyme. MRI showed changes compatible with leukodystrophy. NCVs were abnormally slow. At 12 years of age, he developed acute renal failure and hypertension after some febrile illness. CT demonstrated bilateral acute subdural hemorrhage. His neurological status deteriorated rapidly. After this episode he responded poorly to external stimuli. Conclusion: Subdural hemorrhage could be a serious complication in the late stage of Cockayne syndrome.

Familial paroxysmal kinesigenic choreoathetosis with abnormal ictal electroencephalography

Kubota (Department of Pediatrics, Tokyo Medical College, Tokyo, Japan) We encountered a case of Lennox-Gastaut syndrome with periodic spasms (PS) in which tonic seizures were sporadically intermixed. Unusual features of such series have not yet been reported. We discussed the electro-clinical features from the neurophysiological point of view, based on the video-EEG-polygraphic findings. Case report: The patient was diagnosed as having West syndrome at the age of 7 months. Since age 2, she had frequent tonic seizures, atypical absences and drop attacks. At age 14, a peculiar series of spasms was noticed, and overnight polygraphy was performed. Interictal EEG showed bilateral frontal spikes during awake state and REM sleep, and frequent slow spike-and-waves during non-REM sleep. Global tonic seizures lasting for 3-6 s were observed frequently throughout the night. In the early morning, unilateral seizures occurred, followed by a series of spasms. Each spasm consisted of rotation of the head to the left and brief global muscle contraction lasting for OS-l.0 s. EEG showed diffuse irregular high voltage slow waves, sometimes superimposed by brief fast waves. The interval between spasms ranged from 6 to 10 s, and the spasms were repeated over 8 min. As time passed, the spasms developed into tonic seizures lasting for 3-5 s, and EEG showed diffuse irregular 150-200 pV, lo-15 Hz spike bursts. These electro-clinical features are different from those of ordinary global tonic seizures during sleep, in which no rotation of the head or diffuse high voltage slow waves on EEG occurred. This peculiar series of spasms intermixed with tonic seizures continue still, despite traditional anticonvulsive therapy. Conclusion: The tonic seizures seen in series in the present case are different from those which occur frequently during sleep. The former shows rotation of head followed by brief global tonic seizures with high voltage slow waves accompanied by diffuse spike burst on EEG, while the latter are characterized by symmetric tonic seizures with only diffuse spike burst on EEG. Hence, tonic seizures during series of spasms are thought to be evoked by brief tonic spasms in series.