Toru Kurokawa

Prognosis of occlusive disease of the circle of Willis (moyamoya disease) in children

The prognosis of 27 patients with moyamoya disease was studied. The ages at onset ranged from 11 months to 4-11/12 years. Follow-up study was performed within 4 years from the onset in 13, 5 to 9 years in 5, and 10 to 15 years in 9. Transient ischemic attacks (TIA) occurred most often during the first four years and decreased thereafter. Intellectual deterioration and neurologic deficits increased with time. Outcome included no sequelae in five (19%), occasional TIA or headache alone in nine (33%), mild intellectual and/or motor impairment in seven (26%), requirement for special school or care by parents or institutions after reaching the teen years in three (11%), continuous 24-hour care in two (7%), and death in one (3%). Poor prognosis was correlated with an early age at onset and hypertension.

A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

At present, only one mutation of KCNQ3, a KCNQ potassium channel gene, has been identified as a cause of benign familial neonatal convulsions type 2 (BFNC2). We found a T to C substitution (c.925T→C) on one allele of affected individuals in a Japanese family with BFNC but not on 200 alleles from healthy subjects. c.925T→C replaced Trp309, a conserved residue within the P‐loop of the KCNQ potassium channel family that holds the channel pore open, with an Arg (W309R). We report c.925T→C as the second mutation of KCNQ3 responsible for BFNC2. Ann Neurol 2000;47:822–826

Encephalo-duro-arterio-synangiosis in children with Moyamoya disease

SummaryEncephalo-duro-arterio-synangiosis (EDAS) was done in 16 Japanese children with Moyamoya disease on 22 sides. The results were evaluated clinically, angiographically, and by positron emission computed tomography (PET). Postoperative external carotid angiograms showed a good collateral circulation through EDAS in 72 percent of the treated sides. Two-thirds of the sides examined by PET showed improvement in cerebral blood circulation, particularly at the surgically-treated cortex. Postoperatively the symptoms disappeared in those with good new collateral formation. TIA, RIND, and/or involuntary movement disappaered in 31 percent and partially so in 44 percent 6 months after EDAS. The TIA in the lower limb and/ or involuntary movement persisted in some children. This surgical approach seems applicable particularly for children with the ischaemic type of Moyamoya disease, however, the procedure also has drawbacks. Development of collateral circulation was insufficient in some cases, and the territories of the anterior cerebral artery (ACA) or posterior cerebral artery (PCA) were often not covered, even in those with a good new collateral formation in the middle cerebral arterial (MCA) area.

Monitoring drug noncompliance in epileptic patients: assessing phenobarbital plasma levels.

Summary In an attempt to detect drug noncompliance in epileptic patients, we assessed phenobarbital plasma concentrations and examined the determinants of noncompliance in 252 outpatients, with 22 inpatients as controls. The plasma level of phenobarbital was measured at least twice, at mean intervals of 4.8 months. The percent difference (PD) between the minimum and maximum levels was calculated in each case. A PD of more than 35% was associated with noncompliance. The frequency of noncompliance was 19% in the outpatient group. The medication period, seizure-free period, and, secondarily, number of drugs and drug forms were found to be correlated with noncompliance. Noncompliance was not influenced by the age of the patient, sex, psychomotor development, or seizure type or frequency. The mean period until complete control of seizures was significantly shorter in compliant than in noncompliant patients.

Facial hemangioma with cerebrovascular anomalies and cerebellar hypoplasia

A 5-year-old female patient with a left facial strawberry nevus, ipsilateral optic atrophy and cerebellar signs was observed. Computed tomography and cerebral angiography confirmed left cerebellar hypoplasia and cerebrovascular abnormalities such as internal carotid arterial stenosis, basilar artery occlusion, and a saccular aneurysm of left carotid siphon, all of which are presumed to develop congenitally. This case may represent a new variety of neurocutaneous syndrome which is different from other syndromes associated with facial hemangioma, such as the Sturge-Weber syndrome and the Wyburn-Mason syndrome.

Correlation between the saliva and free serum concentration of phenobarbital in epileptic children

Twenty epileptic children taking phenobarbital (PB) were evaluated for the concentration of PB in their saliva (Sa), total serum concentration (TS), free serum concentration (FS), and also the pH of the saliva samples. The Sa/TS ratio was 43.0±5.2% (mean±SD), and showed a close relationship between the two (r=0.98). The free serum concentrations for PB were also observed to be closely correlated to the saliva concentration (r=0.99), as well as to the total serum concentration, with the FS/TS ratio being 45.0±5.6%. However, no obvious relationship between the salivary pH and the Sa/TS ratio for PB was observed. This suggested the usefulness of monitoring the PB saliva concentrations in clinical management of epilepsy.

Brainstem auditory evoked potentials in children with neurodegenerative diseases

We assessed the usefulness of brainstem auditory evoked potentials (BAEPs) for differentiating types of degenerative diseases in children. The findings of BAEPs were abnormal in one out of two with polioencephalopathies and in seven of the eight with leukoencephalopathies, showing prolonged interpeak latencies of waves I–III, I–V or disappearance of wave components. On the other hand, normal responses were observed in four with corencephalopathies and one with spinocerebellopathy. The serial BAEPs in eight patients had deteriorated with progression of the clinical symptoms. These data on 16 children suggest that BAEPs are indeed a useful tool for monitoring pathophysiologic processes of neurodegenerative diseases.

Aplastic anaemia induced by intravenous phenytoin and lidocaine administration.

Sir, Antiepileptic drugs account for about 4.7%-11.5% of the cases of secondary aplastic anaemia [1, 3, 6]. However, all of these cases involved oral administration and there have been heretofore no reports of aplastic anaemia following parenteral administration of antiepileptic drugs. Here we report a case of aplastic anaemia induced by intravenous administration of phenytoin and lidocaine. The patient was a 13year-old Japanese girl who had had an acute encephalopathy at the age of 10. She had epilepsy and moderate mental retardation with a right hemiplegia since that time and was first seen at Kyushu University Hospital at the age of 11, in 1980. Her seizures had been well controlled with carbamazepine, primidone and valproic acid, up to the age of 12 years, when she experienced status epilepticus, twice, because of irregular ingestion of drugs and a concomitant fever. During a third attack of status epilepticus, she was admitted to Kyushu University Hospital, on March 21, 1983. On admission, she was stuporous and there was anisocoria and right hemiplegia. Laboratory findings were red blood cell count (RBC) 2.79 • 106/cmm, haemoglobin (Hb) 11.1 g/dl, haematocrit 30.6% and white blood cell count (WBC) 6000/cmm (segment 81%, filament 2%, lymphocyte 15% and monocyte 22%), platelet count 194 x 103/ cmm and mean corpuscular volume 110 bt3; revealing macrocytic anaemia (Fig, l ) . Intravenous infusion of lidocaine 30 gg/kg per rain in addition to

Cerebral Arteriovenous Malformations in Children

Differences in clinical features of arteriovenous malformations (AVM) in six children with ruptured AVM (RAM) and three with unruptured AVM (URAM) are herein reported. The age at onset ranged from the neonatal period to 8 yrs in cases of URAM and 10 to 12 yrs in those with RAM. The children with RAM had a sudden onset of intracranial hemorrhage, except for one with prodromal symptoms such as vertigo or headache. The clinical features of URAM were chronic mild symptoms such as a certain degree of delayed development, focal neurologic signs or increased intracranial pressure in addition to macrocephalus and cranial bruit. CT scan revealed an evenly enhanced AVM and dilatation of ventricles in cases of URAM. The RAMs were angiographically relatively small while the URAMs were large.

Moyamoya disease with a developmental anomaly of the mesenchyme

We treated a Japanese boy with moyamoya disease accompanied by synbrachydactylia, funnel chest, pes equinus and short stature. Angiograms showed the anomalous origin of the occipital artery in addition to the moyamoya vascular network at the base of the brain. A generalised mesenchymal anomaly was suggested in this case.