Hideki Horita

Secondary changes in cerebellar perfusion (diaschisis) in hemiplegia during childhood: SPECT study of 55 children

Diaschisis is a functional impairment at a site in the brain remote from the lesion causing it. An investigation of cerebellar diaschisis in childhood was undertaken to better understand the functional maturation of the corticopontocerebellar tract in developing brain. A retrospective study of cerebellar diaschisis in 55 hemiplegic children was conducted using single-photon emission computed tomography (SPECT) with 123I-IMP. Cerebellar diaschisis was evaluated by 2 authors. Crossed cerebellar diaschisis (CCD) was found in 6 of 55 patients. SPECT findings of patients who presented with CCD disclosed supratentorial hypoperfusion of varying degrees, from focally to the whole hemisphere; however, patients had frontal and/or parietal hypoperfusion in common. A second type of cerebellar diaschisis also was demonstrated. Cerebellar hypoperfusion ipsilateral to supratentorial lesions, ipsilateral cerebellar diaschisis (ICD), was observed in 10 of 55 patients. CCD occurred in the patients who suffered from brain injuries after 7 years, 5 months of age, while ICD manifested in patients whose brain injuries occurred before 3 years, 1 month of age. The production of remote effects, such as CCD and ICD, could be closely related to maturation of the corticopontocerebellar tract in the developing brain during childhood.

BUN/Cr ratio as an index of gastrointestinal bleeding mass in children.

Determining the site and severity of blood loss is important in the management of children with gastrointestinal (GI) bleeding. Blood urea nitrogen (BUN) and serum creatinine (Cr) were measured on the day of hospitalization and the ratio of BUN/Cr was calculated in 11 children with 16 episodes of upper GI bleeding and 49 with lower GI bleeding. There was a significant difference between the two GI bleeding groups with regard to BUN/ Cr ratio (p ≥ 0.001). When the ratio was 30 or above, the specificity of upper GI bleeding was 98% with a sensitivity of 68.8%. A linear relationship was found between the BUN/Cr ratio and AHb (AHb = 0.08 χ BUN/Cr ± 0.8 g/dl) for bleeding originating from the upper GI tract. This study confirms that measurement of the BUN/Cr ratio is useful for localizing the source of bleeding to the upper GI tract and also demonstrates its usefulness as an estimation of the severity of blood loss from the upper GI tract.

Circadian rhythm of regular spike-wave discharges in childhood absence epilepsy

Four girls with childhood absence epilepsy with several seizures every day were investigated using an ambulatory cassette EEG. Recordings were started at about 6 pm, and were run continuously for about 22 hours. We studied only the regular and symmetrical 3 Hz spike-wave discharges of at least 5 seconds duration, which are quite similar to or identical with those found in the clinical seizures. Regular spike-wave discharges occurred frequently during wakefulness in 2 cases and during sleep in the other 2 cases: in the latter, they occurred rarely during wakefulness. During wakefulness, we did not find a special time zone in which regular spike-wave discharges were facilitated; during nocturnal sleep, however, they were concentrated in the last third. The rate of regular spike-wave discharges per hour was the highest during stage 1, low during stages 2 and REM, and zero during stage 3 + 4. Average duration of regular spike-wave discharges was the longest during wakefulness in most cases, and shortest during stage 2 in all the cases.

Regional specificity of localized cortical lesions in West syndrome

West syndrome, although classified as a generalized epilepsy, is associated with localized cerebral lesions in some cases. However, similar localized cortical abnormalities usually can result in partial epilepsy, instead of West syndrome. We performed this study to determine the additional factors that result in West syndrome instead of partial epilepsy in patients with localized cerebral lesions. We reviewed the pathologic features, topographic localization, and side of unilaterally defined cerebral lesions in relation to the seizure types in 39 epileptic patients, including five patients who presented with West syndrome. The lesions of all five patients with West syndrome involved the temporal or occipital lobes (or both). Among the nine with an occipital lesion, four had West syndrome. In the 19 with a temporal lesion, three had West syndrome. However, in the 16 patients with a frontal lesion, none exhibited epileptic spasms. In four of the five with West syndrome the lesions were on the right side; 23 had lesions on the right, 16 had them on the left. Temporo-occipital lesions and lesions on the right were related to the genesis of West syndrome, which would be in close correlation with normal brain maturation.

Overnight polygraphic study of agenesis of the corpus callosum with seizures resembling infantile spasms

In a 4-month-old female with agenesis of the corpus callosum, seizures resembling infantile spasms were observed succeeding tonic-clonic seizures. Interictal EEG revealed hypsarrhythmia with an asynchronous pattern. Overnight sleep polygraphy was performed before, during and after ACTH therapy. The results were as follows: 1) Clinical seizures were observed only before ACTH therapy. The clinical seizures and the ictal discharges without any apparent clinical seizures occurred in all stages of wakefulness, REM sleep and NREM sleep. 2) The clinical seizures first began with the tonic-clonic seizures and were followed by seizures resembling infantile spasms. The seizures resembling infantile spasms did not appear singly. The ictal discharges in the tonic-clonic seizures appeared only in one hemisphere and, moreover, asynchronously on many occasions. The polygram of a seizure resembling infantile spasms was just like that of infantile spasms. 3) Before ACTH therapy, decrease of REM sleep time and lack of slow wave sleep were found. Decrease of REM sleep time, lightening of sleep and prolongation of awake time were observed during ACTH therapy as compared with those before the therapy. It was indicated that the seizures resembling infantile spasms in the present case differed considerably from infantile spasms. In addition, it was suggested that the asynchrony of hypsarrhythmia and the asymmetry of ictal discharges were not attributable to agenesis of the corpus callosum but dysfunction of a lower area than the corpus callosum.

Epileptic seizures and sleep-wake rhythm.

The subjects were 25 children, including West syndrome, Lennox–Gastaut syndrome, childhood absence epilepsy (CAE) and localization‐related epilepsies. Clinical seizures occurred only during waking state in 14 patients (including the cases of West syndrome, CAE and epilepsy with myoclonic absences (EMA)), only during sleeping state (especially during non‐REM sleep in five patients, including the case of benign epilepsy with centrotemporal spike), and diffusely during waking and sleeping states in six patients (including the case of early infantile epileptic encephalopathy with suppression burst). These three types were observed in the cases of Lennox–Gastaut syndrome and localization‐related epilepsies. Subclinical ictal discharges occurred during REM sleep in West syndrome, and during REM and non‐REM sleep especially during non‐REM sleep in CAE and EMA.

Overnight polygraphic study of Lennox-Gastaut syndrome

Nine children with Lennox-Gastaut syndrome, aged 2-14 years, were studied by overnight polygraphy for one night. Percentage of sleep period time (SPT) for stage rapid eye movement (REM) and REM density during REM sleep decreased in Lennox-Gastaut syndrome as compared with control. Alpha rhythm was seen in only 3 cases and sleep spindles in only 6 cases. The effect of sleep-wake or REM-non-REM (NREM) sleep rhythm on the rate of generalized epileptiform discharges varied with the individual. Ictal discharges with or without clinical tonic seizures observed in 5 children appeared during NREM sleep and awakening in the morning, and in 2 of these cases they also occurred frequently during the NREM sleep of the first sleep cycle. Subclinical ictal discharges were also seen during REM sleep in the early morning in one case who was 2 years old. The Lennox-Gastaut syndrome is assumed to involved a considerable degree of brain stem dysfunction.

Sleep Pattern in Children with Intractable Epilepsy and Mental Retardation

Abstract: Four cases with intractable epilepsy and mental retardation (Epi + MR), four cases of mental retardation (MR), one case of mental retardation without epileptic seizures for the last several years (MR + (Epi)) and two normal children were studied on their sleep pattern. Besides these, two cases of epilepsy (Epi) were examined. Awake time increased in the Epi + MR group. Slow wave sleep decreased markedly in the Epi + MR group. REM sleep decreased in the MR + (Epi) and Epi + MR groups. REM density was lowered in the following order: normal → Epi → MR →Epi + MR groups. The difference of sleep pattern among the normal, Epi and MR groups was not exhibited clearly, but severe sleep disturbances were shown in the Epi + MR group, implicating the severe brain dysfunction in the cortex and the brain stem.

Cytochrome c oxidase deficiency with acute onset and rapid recovery

A 7-year-old girl with cytochrome c oxidase deficiency who had no neurologic deficits in infancy suddenly developed ophthalmoplegia, ptosis, and respiratory arrest. She recovered almost completely 80 days after onset, suggesting that acute onset and rapid remission are observed in patients with cytochrome c oxidase deficiency. It is also possible that early initiation of therapy in cytochrome c oxidase deficiency with coenzyme Q10 may hasten and enhance the therapeutic effect.

Nonspecific congenital myopathy (minimal change myopathy): A case report

A 28-month-old male with generalized hypotonia and muscle weakness, a myopathic face, skeletal dysmorphism and delayed motor milestones from birth is reported. He gradually developed the ability of sitting and rolling over, but could not stand without support until 28 months. There was no intellectual impairment or seizures. Deep tendon reflexes were absent. The serum CK value, peripheral nerve conduction velocity and EMG were within normal limits. A muscle biopsy specimen showed mild variation in fiber size, and an increased number of type 2C fibers on histochemical examination, but no apparent abnormalities on electron microscopy. The baby was tentatively diagnosed as having minimal change myopathy or nonspecific congenital myopathy which is thought to be one of the congenital nonprogressive myopathies.