Tetsuo Matsuzaka

Cerebro-Oculo-Hepato-Renal Syndrome (Arima's Syndrome): A Distinct Clinocopathological Entity

Three children with Lebers congenital amaurosis, agenesis of the cerebellar vermis, and infantile polycystic kidneys are described. The common clinical findings of three unrelated patients (two boys and one girl) included severe visual impairment from early infancy, profound psychomotor retardation, hypotonia, nystagmus, characteristic facial appearance with blepharoptosis, and progressive chronic renal insufficiency. The two boys died of uremia at ages 13 and 12 years. The common pathological findings in these two patients consisted of minor disproportions of cerebral lobes, almost total aplasia of the cerebellar vermis, micropolygyria of the dentate nuclei, malformations of the brain stem (including pachygyria of the inferior olivary nuclei and partial absence and anomalous position of the pyramidal tracts), and infantile polycystic kidneys; there was fatty liver in one case and hepatic fibrosis in the other. The clinicopathological findings of our two patients were entirely compatible with those of patients previously reported by Arima and other Japanese authors. Therefore, these patients seem to comprise a distinct clinicopathological entity, cerebro-oculo-hepato-renal syndrome (Arimas syndrome), different from other syndromes with retinal, cerebellar, and renal abnormalities. (J Child Neurol 1986;1:338-346)

Quantitative EEG Analyses and Surgical Outcome After Corpus Callosotomy

Summary: Purpose: To clarify the relation between quantitative electroencephalogram (EEG) findings and outcome following corpus callosotomy (CC).

Developmental assessment-based surgical intervention for intractable epilepsies in infants and young children.

Summary:  Purpose: To define the most appropriate time for surgery for medically intractable epilepsies in infants and young children.

Incidence and Causes of Intracranial Hemorrhage in Infancy: A Prospective Surveillance Study after Vitamin K Prophylaxis

In order to evaluate the effect of vitamin K prophylaxis on the incidence of intracranial hemorrhage (ICH) in infants aged from 1 week to 12 months, a prospective surveillance study, from 1974 to 1988, was performed on the well-defined population of Nagasaki Prefecture, Japan. The incidence of ICH in infancy markedly decreased, from 34.3/100,000 to 10.1/100,000 live births, with the oral administration of vitamin K2 at both birth and 1 week, or with additional supplementation at 1 month of age. The diminished incidence was attributed to the decreased occurrence of acute ICH due to late hemorrhagic disease (LHD), a late onset form of vitamin K deficiency, and chronic subdural hematoma. On comparing the possible etiological factors, and clinical and laboratory findings between these 2 groups, it became apparent that chronic subdural hematoma shared some etiological factors (such as breast-feeding, liver dysfunction and no supplementation of vitamin K) with LHD. Furthermore, chronic subdural hematoma developed in some patients who had previously had acute ICH due to LHD. These findings suggest that coagulopathy due to vitamin K deficiency, including LHD, is causally related in the majority of, if not all, cases of chronic subdural hematoma without any history of trauma or central nervous system infections.

Epidemiological and clinical studies of West syndrome in Nagasaki Prefecture, Japan

Recent advances in diagnostic and therapeutic techniques may have changed incidence and etiologies of West syndrome (WS). We performed a retrospective epidemiological study of WS that occurred in 47 children in Nagasaki Prefecture during a recent 10-year period from 1989 to 1998. The incidence of WS was 3.1/10,000 live births. Thirty-nine patients (83%) had symptomatic WS, in which the prenatal causes were most frequent, followed by low-birth weight (LBW) infants, perinatal and postnatal. Such high frequency of LBW may have been due to a relative increase in survivors of premature babies because of recent advances in perinatal care. The brain computerized tomography/magnetic resonance imaging performed in 41 patients revealed congenital brain malformation (10 patients), destructive brain disorders (13 patients), and no structural abnormalities (18 patients). The seizure outcome was worse in the symptomatic WS than in the cryptogenic WS. The developmental outcome was very poor in both symptomatic and cryptogenic WS. The mean developmental quotient (DQ) in all patients was 25, and only four patients (11%) had a normal DQ (>70). DQ was lower in patients with developmental delay before the onset of WS, symptomatic group, relapse and/or persistence of seizure. Developmental delay seen in WS patients seems to be related to the two major factors, that is, underlying brain abnormalities and the persistent seizures as a result of the former. Therefore, every effort should be made to control seizures, including medical and early surgical treatment, as well as prevention of brain damage through perinatal care.

Rett's syndrome: progression of symptoms from infancy to childhood.

The results of studies of seven girls with Retts syndrome and two additional cases suggestive of Retts syndrome are presented. After normal neurological development up to the age of 7 to 20 months, there was a rapid regression of higher cortical function. Retts syndrome was initially manifested by a delay of further motor development and the appearance of autistic traits. As the disease progressed, there was loss of ability to crawl, loss of purposeful hand movements, abnormal respirations, truncal ataxia, seizures, and spastic increase in muscle tone. Blood chemistries, including ammonia levels, were normal. Metabolic interference, a recently hypothesized form of inheritance, may occur in this syndrome. (J Child Neurol 1986;1:137-141)

Prophylaxis of intracranial hemorrhage due to vitamin K deficiency in infants

To determine the most effective way of preventing intracranial hemorrhage due to vitamin K deficiency in infants, we first performed a comparative study using Normotest on the effects of several regimens for the oral administration of vitamin K2. Based on the results, we gave vitamin K2 orally, 2 mg, at birth, and then, 4 mg, at 1 week of age (on discharge from the newborn nursery) to all infants except premature and low-birth-weight infants born in Nagasaki Prefecture, Japan. Since then, as the number of infants with vitamin K2 prophylaxis increased, patients with intracranial hemorrhage due to vitamin K deficiency decreased in number, and no patient was found in 1984. The incidence of this disease in infants with vitamin K prophylaxis was 1/68,500, which was one-twentieth of that (1/3,500 live births) before the period when most neonates received vitamin K prophylaxis. From the results, we concluded that the oral administration of vitamin K2 at birth and 1 week of age prevents this disease.

Enhanced glucose metabolism and impaired placental function in hypoxic pregnant rats

Glucose metabolism using 2-deoxy-2-[18F]fluoro-D-glucose [( 18F]FDG) was studied in experimental hypoxia (10% oxygen concentration) of pregnant rats with special attention given to the placental function. After an i.v. injection of [18F]FDG, the uptake of 18F increased with time in the maternal brain, placenta and fetus of control rats. In the hypoxic condition, the uptake in these tissues was enhanced significantly, especially in the maternal brain and fetal heart, brain and lungs. A double-label autoradiography with [18]FDG and [14C]iodoantipyrine [( 14C]IAP) was performed to elucidate changes of the placental function in the hypoxic condition. The [18F]FDG image revealed a higher accumulation in the maternal side of the placenta of a control pregnant rat than in its fetal side. [18F]FDG uptake increased in the fetal brain and heart of hypoxic rats. The [14C]IAP image demonstrated that in the control rat there was a clear border zone on the maternal side of the placenta with very low permeability into the fetus. On the other hand, a high and heterogenous accumulation in both placenta and fetal organs was shown in hypoxic rats. We interpret this data to suggest that in a hypoxic condition the function of the placenta as a barrier system is impaired.

Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy.

A female patient who fulfilled the diagnostic criteria of Walker-Warburg syndrome had muscle biopsy finding of muscular dystrophy. There was normal expression of merosin (laminin alpha2 chain) and dystrophin and only slightly reduced dystrophin-associated glycoprotein expression. On genetic analysis, she had no specific haplotype, the common mutation of 3kb insertion, or point mutations in the Fukuyama-type congenital muscular dystrophy gene, suggesting that the two diseases are not genetically identical.

Relationship between vitamin K dependent coagulation factors and anticoagulants (protein C and protein S) in neonatal vitamin K deficiency.

To determine the relationship between vitamin K dependent coagulation factors and natural anticoagulants, namely protein C and protein S, in various degrees of vitamin K deficiency, plasma values for clotting activity, protein induced by vitamin K absence (PIVKA-II), protein C antigen, gamma-carboxy protein C antigen, and protein S antigen including total and free fractions and activity of protein C were measured in 66 full term and healthy breast fed neonates who did not receive vitamin K supplement at birth. The 66 neonates were divided into a control group (17 cases) and a low group (49 cases) according to their values for clotting activity--that is, > or = 20% or < 20% during the first six days of life--and vitamin K was immediately given when the neonates showed values < 20%. In the low group clotting activity gamma-carboxy protein C, free protein S, and protein C activity was significantly decreased to a minimum on day 2 or 3, and increased in parallel after vitamin K administration. Furthermore, they were positively correlated with one another and inversely cor-correlated with the PIVKA-II concentrations. These findings suggest that simultaneous gamma-carboxylation of coagulation factors and proteins C and S acts to maintain both coagulation and anticoagulation activities in parallel at various concentrations of vitamin K. The breast milk intake in the group with low values of clotting activity was significantly lower than that in the control group during the first three days of life.(ABSTRACT TRUNCATED AT 250 WORDS)