The latency and duration of Fersen reflex were measured in 24 normal full-term infants from 0 to 10 months of age, 54 normal preterm infants from 0 to 5 months of corrected age, and 17 children with developmental disabilities aged 0 month to 3 years including 5 cases with disturbance of central coordination, 8 cases with cerebral palsy and 4 cases with severe mental and motor disabilities. To perform the Fersen reflex study, a pick-up electrode was placed over the belly of the rectus femoris. The infant's heel was hit with a patella hammer which triggered the sweep of the electromyography (EMG) at the same time. The latency and duration of the muscle action potential which occurred with the extension of the infant's lower extremity were measured by EMG. The latency of Fersen reflex in normal full term infants was constant during the first 10 months. The mean value was approximately 10 msec and similar to that of normal preterm infants, which was also constant during the first 5 months. Such short latency as that of H reflex in infancy suggested that this reflex was monosynaptic. With respect to the latency of Fersen reflex, there was no difference between normal infants and children with developmental disabilities. However, the duration of Fersen reflex in children with cerebral palsy was significantly prolonged that that of normal infants. In addition, marked persistence of Fersen reflex over the first year was observed in children with cerebral palsy, while this reflex tended to diminish after 4 months of age in normal infants. With these findings, it seems difficult to distinguish infants with developmental disabilities from normal infants by comparing the latency of Fersen reflex. In Fersen reflex, the intensity of the response and the persistence should be evaluated than the latency.
The anticonvulsant activity of lidocaine (Ld) was reported by Bernhard and Colleagues in 1955. It does not disturb the consciousness state, the effect is fast and it is maintainable with intravenous dripinfusion. Ld was tried in 12 cases of status epilepticus (SE) including 3 newborn infants, and in 4 cases of intractable seizures (IS), and the effect and the toxicity were evaluated clinically. Intravenous administration of Ld was stated in cases of SE with the initial dosis of 2mg/kg in 30 seconds, followed by continuous drip-infusion at the rate of 4mg/kg/hour. In cases of IS, drip-infusion (2mg/kg/hour) was continued until the oral anticonvulsants and/or the ketogenic diet became clinically effective. As a result of Ld treatment, SE was controlled in 11 cases out of 12, and 3 cases out of 4 of IS were kept in a non-convulsive state until seizures were controlled by therapy of the oral anticonvulsants and/or the ketogenic diet. Furthermore, it is noteworthy that all cases of neonatal convulsions were controlled by the Ld therapy. No abnormal changes were observed in pulse rate, blood pressure, ECG, liver function and renal function in any of these patients. It was concluded that Ld could be recommended as an excellent and non-toxic anticonvulsive agent in various convulsive disorders.
We reviewed clinical and electroencephalographic data on 2 infants, one with purulent meningo-encephalitis (4 months old, boy) and the other with H. H. syndrome (9 months old, girl), both with periodic lateralized epileptiform discharges (PLEDs) in their electroencephalograms (EEG). The features of PLEDs in our cases were as follows: 1) they were observed in acute cerebral lesions with generalized convulsions and/or partial convulsions, 2) their appearance was transitory and their duration was two to three days, 3) in the EEG, they were observed at intervals of 0.5-2 seconds and at voltages of 70-100, μV, and consisted of sharp waves, positive spikes, and spike and wave discharges. These PLEDs were found in the disturbed area of the cerebrum in the case of purulent meningo-encephalitis. By comparing the EEG and CT scans in the case of purulent meningo-encephalitis, it was thought that the causes of PLEDs were brain edema and brain bleeding. Therefore, we suspected that both the separation of cerebral cortex and white matter, and optimum damage to cortex are necessary for the appearance of PLEDs. We indicated that PLEDs were also observed in a process of development in the infants as is in the cases of adults.
Ultrastructural observations on biopsied skin, rectal mucosa and peripheral blood cells of a 6-year-old boy with late infantile ceroid-lipofuscinosis revealed the following results. 1) Curvilinear profiles (CLPs) enclosed by a single membrane were observed in various tissues and no other type of inclusion was observed. 2) CLPs were seen in the cytoplasm of both lymphocytes and neutrophils in peripheral blood. In biopsied skin, CLPs were located dominantly in epithelial cells of sweat glands and in other various cells, such as endothelial cells of blood vessels, axons and smooth muscle cells. In biopsied rectal mucosa, CLPs were seen also in nerve cells, Schwann cells and rectal mucosal cells. 3) Skin biopsy is the most useful technique for the diagnosis of ceroid-lipofuscinosis because it is easier and safer than biopsy of rectal mucosa and provides more abundant informations than those of blood cells.
The effect of intravenous thyrotropin-releasing hormone (TRH) injection on auditory brain stem response (ABR) was studied in ten children aged one month to ten years with various ABR abnormalities resulting from various neurological disorders. ABR was studied before and after an intravenous injection of 10μg/kg of TRH, for 40min at 4min intervals. Two patients showed post-TRH changes in ABR. A 10-year-old girl with absent waves III through V due to spinocerebellar degeneration showed temporary appearance of wave III starting from 5 min after the TRH injection and lasting for 25 min. A 6-year-old girl with an attenuated wave V accompanying pontine glioma showed an apparently increased amplitude of wave V from 5 to 45 min after the TRH injection.
A follow-up study was made on 166 cases with febrile and afebrile seizures in the first year of life. All patients were followed until 6 years of age or older. The subjects were divided into four small groups: group A, febrile convulsions only; group B, febrile convulsions, evolving to afebrile seizures; group C, afebrile seizures with normal mental and physical development, and seizures stopped before the age of three; group D, afebrile seizures other than group C. Comparison among these four groups were made with regard to etiologic factors, clinical features, EEG and long-term prognosis. Afebrile seizures subsequently developed in 48.5% of patients with febrile convulsions in the first year. From the analysis of factors associated with these four groups, group A was characterized by 1) cryptogenic etiology, 2) boy preponderance, 3) positive family history, 4) late onset after 6 months of age, and 5) very good prognosis. Group D was characterized by 1) symptomatic etiology, 2) a lower incidence of family history, 3) a higher incidence of early onset within the first 6 months, and 4) poor prognosis for mental and physical development and seizures. Group B had both features of A and D. Group C showed features different from group A and might have something in common group D with very good prognosis.
To clarify the characteristics of childhood epilepsy based on prenatal causative factors, a clinical study was performed on 187 epileptic children with exclusively prenatal factors. Subjects consisted of cases with 1) family history of convulsions, without any other exogenous or endogenous factors, 2) known disease entities with hereditary or chromosomal abnormalities, 3) apparent intrauterine abnormalities, or 4) congenital brain dysgenesis and/or multiple anomalies. Clinical characteristics were analyzed and classified into five groups ; 96 cases with predisposition to convulsions (A), 39 cases with phacomatoses (B), 10 cases with chromosomal abnormalities (C), 32 cases with cerebral dysgenesis (D), and 10 other cases (E). In group A, 78 cases (85.7%) had their initial seizures below four years of age with the peak at one to two years. They occurred as partial epilepsy in 73 cases (76.0%) and primary generalized epilepsy in 23 cases (24.0%). In groups B, C, D and E, epilepsy started within the first year of life in 57 cases (62.6%), especially within six months in 36 cases (39.6%). In these groups partial epilepsy was noted in 53 cases (58.2%), and secondary generalized epilepsy, mainly the West syndrome, in 38 cases (41.8%). At the time of follow-up, transition from partial to secondary generalized epilepsy was observed in 11 cases (11.4%) of group A, and in 9 cases (9.9%) of groups B, C, D and E. Prognosis was favorable in group A, while cases in groups B, C, D and E showed poor seizure prognosis.
To investigate the characteristics of childhood epilepsy, an electroencephalographic study was performed on 187 epileptic children with prenatal causative factors. Subjects consisted of the cases with 1) family history of convulsions, without any other exogenous or endogenous factors, 2) known disease entities with hereditary or chromosomal abnormalities, 3) apparent intra-uterine abnormalities, or 4) congenital brain dysgenesis and/or multiple anomalies. Electroencephalographic characteristics were analyzed on the following five groups; 96 cases with familial convulsive predisposition (A), 39 cases with phacomatoses (B), 10 cases with chromosomal abnormalities (C), 32 cases with cerebral dysgenesis (D), and 10 other cases (E). Persistent asymmetry of the background activity was noted in 6 cases (6.3%) of group A, and 31 (44.9%) of 69 cases excluding 22 cases without visible basic activity due to marked seizure activity in groups B, C, D and E. Focal cortical epileptic discharges were noted in 55 cases (57.2%) of group A, and 45 cases (49.5%) of groups B, C, D and E. Regarding the localization of focal cortical discharges, 18 cases (32.7%) among 55 cases of group A showed the central focus, while 21 cases (46.8%) among 45 cases of groups B, C, D and E showed multifocal discharges. Subcortical epileptic discharges were noted in 37 cases (38.6%) of group A. On the other hand, in groups B, C, D and E, diffuse cortico-reticular discharges were noted in 38 cases (41.7%). Twenty-one cases (55.3%) showed hypsarhythmia, mainly atypical pattern such as modified or periodic hypsarhythmia.
Congenital myasthenia is a rare form of myasthenia, and according to some authors represents less than 1% of all cases. The aim of this report is to describe two sisters with congenital myasthenia associated with skeletal abnormalities and cataract. Case 1.: 13-year-old-girl. The patients younger sister is similarly affected (case 2). The parents are well, and not consanguineous. She had bilateral ptosis since birth. The parents consulted a pediatrician at the age of 1 year and 8 months, and a diagnosis of myasthenia gravis was made by Tensilon test. She was floppy, and started to walk at the age of 6 years. She showed chest deformity since birth, and scoliosis was noted at the age of 7 years. Case 2.: 7-year-old-girl. She had also bilateral ptosis since birth, and had measles encephalitis at the age of 6 months. She was also floppy and started to walk at the age of 3 years and 6 months. On physical examination, they showed bilateral ptosis, high arched palate, chest deformity, and scoliosis. There was weakness of proximal muscles. There was no clinical improvement of ptosis after Tensilon injection. But repetitive ulnar nerve stimulation showed a decremental response at all frequencies of stimulation. Following the injection of Tensilon this response increased. The anti-acetylcholine receptor antibody was not detected in both cases. Muscle biopsy studies showed mild variation in fiber size with normal fiber type distribution. There was a punctated cataract in both cases. IQ was 91 in the elder sister, and 45 in the younger sister. The occurrence of the disease in two sisters and healthy parents suggests an autosomal recessive inheritance.
Goldenhar syndrome, caused by dysplasia of the first and second brachial arches, means the symptom complex consisting of epibulbar dermoids, skin tags on preauricular areas and vertebral anomalies. We experienced a rare infant case of this syndrome associated with arachnoid cyst in the right temporal area, communicating hydrocephalus, and two dermoids in the right cerebellopontine angle and the anterior portion of the right petrous pyramid. This 4-month-old girl had the asymmetrical head and the right ear of abnormal shape since birth and visited to our department because of bulging of the right fronto-temporal area. On admission, her head circumference was 46 cm and her right anomalous auricle associated with epibulbar dermoids was noted. CT scan of the brain revealed the arachnoid cyst in the right temporal area, communicating hydrocephalus and two dermoids in the right petrous pyramid which were idnentified by the EMI number. We carried out the ventriculo-peritoneal shunt for hydrocephalus and cranioplasty for the bulging of the temporal bone. Goldenhar syndrome may rarely been associated with intracranial lesion and the study of CT scan for Goldenhar syndrome should be recommended.
The infant, a female, was delivered a week after estimated term with stained amniotic fluid. The birth weight was 2, 280g (small for date) and there were hypoglycemia, hypothermia, feeding difficulty and moderate jaundice in the neonatal period. She developed spastic quadriplegia and dystonia since 8 months of age, and died from suffocation at 4 years of age. Low density areas in bilateral putamen were noticed by CT scan at one year of age. The microscopical examination showed proliferation of capllaries and gliosis in the gray matter around the third and fourth ventricles and aquaeductus mesencephali, tegmentum pontis and optic chiasma which were specific findings of Leigh encephalopathy. In addition to that, we found out non-specific lesions which were laminar necrosis of the third layer of cerebral cortex, neuronal loss in corpus striatum and loss of Purkinje cells of cerebellum.
Blood methionine concentration has been monitored for the screening of homocystinuria at the neonatal period. Urinary homocystine must be identified for confirmation of the diagnosis in a possible case of homo- cystinuria. Recently, we experienced a 3-month-old boy with homocystinuria due to cystathionine synthased eficiency who had been discovered by the newborn screening. However, he was diagnosed as hypermethioninemia at the neonatal period and homocystinuria was not detected until three months of age by the cyanide nitroprusside test and even by amino acid autoanalysis. Therefore, it should be emphasized that urinary homocystine is repeatedly examined in a possible case of homocystinuria until the final diagnosis is established.