Fluctuating hearing loss, episodic headache, and stroke with platelet hyperaggregability: coexistence of auditory neuropathy and cochlear hearing loss.

We encountered a 10-year-old girl with fluctuating sensorineural hearing loss, episodic headache, and white matter stroke. Strenuous exercise, febrile illness, and general anesthesia all temporarily worsened hearing. Audiologic findings were asymmetric: left-sided retrocochlear dysfunction consistent with auditory neuropathy contrasted with cochlear hearing loss in the right ear. Platelets obtained during a headache-free period showed excessive responsiveness to collagen in vitro, while episodic elevations of thromboxane B(2) and thrombin-antithrombin III complex were noted in blood sampled during headache. Treatment of hyperaggregability of platelets with aspirin and antioxidant vitamins relieved headache, while adenosine triphosphate administration improved hearing thresholds. In this patient, hearing impairment and white matter strokes appeared to respectively related to impaired blood flow to the cochlea and white matter caused by platelet dysfunction triggered by physiologic stresses.

[Continuous midazolam infusion for refractory nonconvulsive status epilepticus in children].

We examined efficacy of continuous midazolam (MDL) infusion in seven episodes of refractory nonconvulsive status epilepticus (NCSE) in five children. Diagnosis included Lennox-Gastaut syndrome (two cases), and symptomatic generalized epilepsy, ring chromosome 20 syndrome, and epilepsy with continuous spike-waves during slow-wave sleep (one case each). One patient with Lennox-Gastaut syndrome and another with ring chromosome 20 syndrome had two episodes of NCSE. MDL was given as an initial bolus of 0.15 to 0.3 mg/kg, followed by continuous intravenous infusion at 0.1 to 0.2 mg/kg/hr. The infusion rate was increased slowly by 0.1 mg/kg/hr every 0.5 to 1.0 hr, up to 0.4 mg/kg/hr or until NCSE was controlled. The electroencephalogram, vital signs, blood pressure, and oxygen saturation were monitored during therapy. Electrical status epilepticus was abolished within a few hours in five of the seven episodes, and two patients could maintain wakefulness, oral intake, and bowel and bladder control throughout the continuous infusion. In one patient in whom NCSE recurred, it then remained uncontrolled even at a maximum dose. Serious complications such as respiratory depression or hypotension were not observed. Continuous intravenous infusion of MDL was effective and safe for NCSE in children, and can be used as firstline therapy for this condition.

Congenital monomelic neurogenic disorder with calf muscle hypertrophy.

An 8-year-old girl had hypertrophy of the right calf muscle since birth, with progressive ankle contracture and mild muscle weakness. Her right leg was 3 cm shorter than her left. Electromyography and biopsy of the affected muscle showed neurogenic changes. She also had neurogenic bladder and spina bifida occulta at the S1 level. We believe that the spina bifida was responsible for the neurogenic changes in her right calf, but could not find definite evidence for this association. Although cases with neurogenic muscle hypertrophy, especially calf muscle hypertrophy, have been reported, none of them was congenital or associated with spina bifida occulta.

[The parents' assessment and needs for home mechanical ventilation in patients with pediatric neurological disorders].

Parents' of patients with pediatric neurological disorders were sent a questionnaire, on their assessment and needs for home mechanical ventilation (HMV). Nine of 12 enrolled families responded. Respirator troubles were handled by a contracted HMV company. Decreased SpO2 levels and endotracheal bleeding were cared by family members under telephone instructions of doctors, though they felt anxious about dealing the problems. The mothers felt happy to live with their children by virtue of HMV, however, they had strong stress about the management of emergency care and medical care technique. They also felt very tired physically, but refreshed by being free from daily HMV care for a short time and enjoying their own time. The parents were not satisfied with the present house facilities and education system. They evaluated the induction of HMV positively but were most anxious for a better home care nursing system, doctors responding to a house call, more information on HMV, reduction of their anxieties and fatigue, and improvement of economical and educational environments.

[Three cases with severe motor and intellectual disabilities presenting the severest condition caused by prolonged non-convulsive status epilepticus].

Three patients with severe motor and intellectual disabilities presented deterioration of the activities of daily living, which was revealed to be caused by prolonged non-convulsive status epilepticus (NCSE). Their condition improved by the treatment with antiepileptics. Case 1, a 4-year-old girl with profound psychomotor retardation and past history of West syndrome of unknown etiology, became unable to sit and eat orally above age of two years. EEG showed continuous generalized slow spike and wave bursts indicating NCSE. Continuous intravenous infusion of midazolam abolished EEG abnormalities of NCSE, and she regained the ability of oral feeding. Case 2, a 3-year-old boy with Angelman syndrome and past history of West syndrome, presented decreased mental response, poor oral intake and somnolence. EEG showed continuous slow spike and wave bursts, indicating NCSE. High-dose phenobarbital therapy and continuous intravenous injection of vitamin B6 were effective, and remarkably improved his psychomotor activities. Case 3, a 3-year-old boy with Lennox-Gastaut syndrome, developed decreased psychomotor activity and loss of vocalization and walking. He could not sit by himself and became nearly bed-ridden. EEG showed very frequent generalized spike and wave bursts, showing NCSE. Continuous infusion of thiopental diminished NCSE, and he could walk again. Psychomotor deterioration in patients with severe motor and intellectual disabilities may be caused by NCSE, which should not be overlooked.

[Adverse effects of dichloroacetate in a girl with mitochondrial disorder].

We present the effects and adverse effects of dichloroacetate (DCA) in a girl with mitochondrial disorder. Oral administration of DCA 50 mg/kg per day, reduced the elevated levels of lactate to below the normal range. Treatment with DCA ameliorated electroencephalogram abnormalities, but caused the adverse effects with hepatomegaly and decreased activity, which were improved by reduction or withdrawal of DCA. The decreased activity may be an adverse effect on the central nervous system. The dosage of DCA should be adjusted for each patient.

[Non-intravenous high-dose phenobarbital therapy for status epilepticus refractory to continuous infusion of midazolam or pentobarbital: report of three cases].

The management of refractory status epilepticus (RSE) is crucial in preventing neurologic impairment. Although a variety of treatments for RSE including continuous infusion of midazolam (MDL) or pentobarbital (PTB) have been carried out, they are not always effective. Intravenous very-high-dose phenobarbital (PB) has been recommended as having many advantages in the United States, but is not available in Japan. We treated 3 patients suffering from long term RSE with non-intravenous high-dose PB (NIHDPB). Their seizures were not controlled by continuous infusion of MDL and/or PTB. PB was initially given intramuscularly or rectally and then orally. Within a few or ten days, seizures were completely controlled, and consciousness level gradually improved in all cases. The serum levels of PB at seizure control ranged from 50 to 58 micrograms/ml. The epileptiform activities on EEG nearly disappeared in the absence of the burst suppression pattern. Hypotention and respiratory depression did not develop during NIHDPB. Elevated gamma-GTP levels with normal hepatic transaminases were seen in all cases, but it was not necessary to discontinue NIHDPB. NIHDPB may be one of the most effective and safe treatments in Japan for status epileptics refractory to continuous infusion of MDL or PTB.