A case of early myoclonic encephalopathy with intractable seizures successfully treated with high-dose phenobarbital.

BACKGROUND: Early myoclonic encephalopathy (EME) is an epileptic syndrome that develops in neonates, commonly within 1 month of birth. The condition is characterized by irregular, partial, and asynchronous myoclonus. The seizures in EME are generally refractory to antiepileptic drugs and no effective treatment for EME has been established. We encountered a case of EME in which oral high-dose phenobarbital therapy effectively alleviated seizures. CASE REPORT: A male infant developed erratic myoclonus in the face and limbs, exhibited upward gaze and facial flushing 20-30 times a day since 1 week of age. Electroencephalogram (EEG) showed a burst-suppression pattern, and considering the clinical features, EME was diagnosed. Valproate and vitamin B6 treatments were initiated; however, they were not effective. At day 58 after birth, oral high-dose phenobarbital therapy was introduced which resulted in the suppression of seizures to one or two per week and disappearance of the burst-suppression pattern on EEG. CONCLUSION: Oral high-dose phenobarbital treatment may be suitable for controlling seizures in EME.

[Assessment of brain perfusion by arterial spin-labeling MR imaging in qusai-moyamoya disease associated with Graves' disease].

We report a case of 12-year-old girl with Graves' disease who had presented with deterioration in physical and scholastic performances since 10 years of age. She had an episode of atonic seizure and difficulty in speech. Brain MRI revealed formation of moyamoya vessels and a lesion suggestive of ischemic changes in the left frontal lobe. Because of uncontrollable thyrotoxicosis with anti-thyroid drug, she received a subtotal thyroidectomy. Two months later, she received a shunt operation between left superficial temporal artery and middle cerebral artery. The postoperative arterial spin-labeling MR imaging demonstrated an improvement of brain perfusion in left frontal lobe compared with the preoperative one, and provided comparable results of angiography and acetazolamide-challenged 150-gas PET. Thus, arterial spin-labeling MR imaging seems useful for follow-up evaluation of brain perfusion in qusai-moyamoya disease.

Marked elevation of interleukin-6 in mild encephalopathy with a reversible splenial lesion (MERS) associated with acute focal bacterial nephritis caused by Enterococcus faecalis.

This report describes two cases of mild encephalitis/encephalopathy with reversible splenial lesion (MERS) associated with acute focal bacterial nephritis (AFBN). The patients, who presented with fever and delirious behavior, exhibited hyponatremia and markedly elevated interleukin (IL)-6 in cerebrospinal fluid (CSF) and serum. Enterococcus faecalis was detected in the urine culture. After ampicillin treatment, their consciousness improved without neurological sequelae. Moreover, a diffusion-weighted MRI abnormality, i.e., intensified signals in splenium of the corpus callosum, disappeared. MERS is a possible complication of AFBN. Elevated CSF IL-6 levels suggest that remote activation of intracerebral immune response through the immune-neuroendocrine pathway might play an important role in the pathophysiology of MERS.

[A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation].

This report describes a male case of subcortical band heterotopia (SBH) with somatic mosaicism of doublecortin (DCX) mutation. His brain MRI revealed bilateral SBH with anterior dominant pachygyria. Although he had infantile spasms from 5-months old and showed mild developmental delay, he responded well to vitamin B6 and ACTH therapy. We conducted DCX mutation analysis using peripheral blood lymphocytes of the proband and his parents. Only the present case showed the mixture pattern of missense mutation (c. 167 G>C) and normal sequence of DCX gene indicating that the present case resulted from somatic mosaicism of de novo DCX mutation. Male patients with DCX mutations generally present with the classical type of lissencephaly, severe developmental delay, and intractable epilepsy. However, somatic mosaic mutation of DCX can lead to SBH in males.

Focal EEG abnormalities might reflect neuropathological characteristics of pervasive developmental disorder and attention-deficit/hyperactivity disorder.

Neurophysiological characteristics in electroencephalograms (EEG) were investigated for patients with pervasive developmental disorder (PDD) and for patients with attention-deficit/hyperactivity disorder (AD/HD). This study examined 64 PDD children and 22 AD/HD children with no history of epilepsy or progressive neurological or psychiatric disorder. We used multivariate analysis to compare EEG abnormalities, clinical symptoms, and intelligence levels between PDD and AD/AD patient groups. Paroxysmal discharges at the frontopolar-frontal (Fp-F) brain regions and background EEG abnormalities tended to be detected preferentially in the PDD group, although paroxysmal discharges at central-temporal (C-T) regions tended to be detected preferentially in the AD/HD group. The paroxysmal discharges observed in patients expressing persistence and impulsivity are apparently localized respectively in the Fp-F and C-T regions. A combination of EEG abnormalities, including background EEG abnormalities and paroxysmal discharges at Fp-F and C-T regions, might be useful diagnostic hallmarks to distinguish PDD with AD/HD from AD/HD alone using a logistic regression model. The dysfunction of specific brain areas associated with EEG abnormalities might explain characteristics of clinical symptoms observed in PDD and AD/HD patients.

Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly.

A boy with epilepsy of neonatal onset was diagnosed with hemimegalencephaly (HME) based on the finding of an enlarged left cerebral hemisphere with dysplastic cortex over the frontal, parietal, and temporal lobes. Magnetic resonance imaging (MRI) showed an essentially unremarkable gyration pattern in the contralateral hemisphere. Ictal electroencephalography and magnetoencephalography revealed epileptic foci in the left hemisphere. Hyperperfusion and hypermetabolism were noted in comparison to the contralateral hemisphere, and these findings were consistent with the diagnosis of HME. Soon after hemispherotomy was performed at age 3 months, an epileptic focus appeared in the right hemisphere. The epilepsy remained intractable. Unexpectedly, dysplastic changes emerged over the right frontoparietal cortex at age 7 months as shown by MRI, and the cortical volume in this area was observed to be markedly increased at age 1 year and 8 months. This increase was associated with a distorted gray-white matter boundary. These findings contribute to our understanding of the pathogenesis of HME and may be helpful in determining the management approach for epilepsy in this entity.