There have been numerous reports as well as case presentations, in the field of clinical research since Fukuyama type congenital muscular dystrophy (FCMD) was first reported by Fukuyama et al. as a peculiar form of congenital progressive muscular dystrophy (CMD). Toda et al. localized the FCMD gene locus to chromosome 9q31-33 using genetic linkage analysis. Clinical application of molecular genetic studies is a new and exciting aspect of FCMD research. The author reviewed the literature and discusses herein: the classification of CMD and the position of FCMD,  researches on the pathogenesis and pathophysiology of FCMD,  DNA diagnosis using polymorphism analysis (carrier diagnosis and prenatal diagnosis),  approaches to clinical heterogeneityin FCMD,  the difference between FCMD and Walker-Warburg syndrome. In addition, data accumulated by the authors are presented.
We investigated the correlation between intelligence quotient and school performance evaluated by PRS (the Pupil Rating Scale Revised) to assess an adequacy of two-axial diagnosis of learning disabilities (LD). The subjects were 37 children, including 31 cases with developmental or school problems and 6 normal children. The Japanese Wechsler Intelligence Scale for Children-Revised (WISC-R) was employed for an estimation of intelligence quotient (IQ) and, PRS was used to evaluate school performance. We defined ‘LD risk child’ as a child whose IQ was no less than 70 and PRS score was no more than 65. A statistical evaluation of IQ and PRS was done in this group separately. Ten children were diagnosed as ‘LD risk’ using this criterion. Fourteen children had normal IQ, and thirteen children were mentally retarded. There was a significant correlation (r=0.68, P<0.001) between IQ and the PRS score in these 37 children. On the other hand, no significant correlation was found between IQ and the PRS score of the ‘LD risk child’. This result suggests that we can expect high PRS score in proportion to their IQ level. Because LD children generally tend to demonstrate deviated IQ-school performance correlation, we conclude that the WISC-R and PRS are appropriate for two-axial screening of LD.
We followed children with the risk factors for learning disability (LD) at the three year-old screening prospectively. The five risk factors were speech delay, hyperkinesia, delayed social skill, delayed comparative conception (big and small, long and short) and mutistic behaviour. We evaluated seventeen elementary school children using WISC-R and the Pupil Rating Scale Revised. Six of them were diagnosed as normal, six were learning-disabled, and five were mentally retarded children. We proposed that the screening of LD at three years by the risk factors were effective but only partially.
A clinical study was performed on 8 cases of sudden death (9.0%) selected from a series of 89 patients with severe handicaps who died at the Metropolitan Medical Center of Severely Handicapped during the period from 1968 through 1986. 1) All suffered from profound mental retardation with motor disturbance, but were able to react to environmental stimuli. 2) Most had mixed quadriplegia showing athetosis-related hypertonus. 3) Severe physical deformation and chronic respiratory symptoms were present in 6 of 8 patients. 4) Most of them were adolescent. 5) Autopsy revealed no particular findings to which the expected death could be attributed except for the right cardiac enlargement in 5 cases. Four of the 8 patients were recovering from respiratory infection or were in the process of having their anticonvulsant doses tapered. These four cases had shown recent improvement in their general systemic condition. Sudden death occurred mainly during limited time periods in the early morning or in the evening and was not related to sleep. The authors suggest that the changes in the autonomic nervous system may precipitate them into sudden death.
Two sisters were presented, 16 years old and 12 years old, who showed similar clinical courses. They had had mental retardation since early childhood, and then ataxia began. They suffered from astatic and tonic seizures from early school age, which gradually evolved to intractable epilepsies. Spasticity progressed, and they deteriorated both physically and mentally. They revealed photo-sensitivity; convulsions were induced by the flickering of light. They were attacked by myoclonic seizures as well as choreoathetosis, and became bedridden by the latter part of the elementary school age. There were no fruitful results of any kind from the laboratory examinations for metabolic disorders. EEG showed that the epileptic seizure discharges were induced by photic stimulation; there were frequent 3-4 Hz diffuse spike-and-wave short bursts during waking and sleep periods. MRI findings of the elder sister at the age of 16 revealed remarkable diffuse brain atrophy. Gene analysis showed abnormally enlarged DNA fragments localized on the short arm of chromosome 12. This meant expanded CAG trinucleotide repeats. The younger sister died at the age of 12 years. Autopsy findings revealed degeneration of both dentatorubral and pallidoluysian pathways. There were especially remarkable gliosis and neuronal cell loss in the outer segment of globus pallidus, and moderate neuronal cell loss and typical grumose degeneration in the dentate nucleus. The diagnosis of juvenile-type hereditary dentatorubral-pallidoluysian atrophy was compatible with the pathologic findings. This diagnosis will be made possible before death through the understanding of the clinical symptoms and molecular genetics.
The Yokohama Rehabilitation Center has been treating children with cerebral palsymainly by Vojta's method. We divided 90 cases with cerebral-palsied patients into two groups according to the month when the treatment started. The first group consisted of 27 cases started treatment before six months old; the second group consisted of 63 cases, after seven months old. Of these, all eleven children with hemiparetic type learned walking. Forty-one children with tetraparesis, spastic or mixed type could not learn walking. In the other types of cerebral palsy, 84.6% of the first group, and 40.0% of the second group could walk eventually. Though all cases in the first group had perinatal disturbances, 11 cases (17.5%) in the second group had none. The results of the treatment for the children with cerebral palsy of the first and second groups show that early treatment is effective and necessary. Developmental screening for four-month-old is performed at the city health welfare offices. This has a great role in finding risky babies of cerebral palsy. Risky babies checked at four months of age could have therapy at six months of age at the latest. So it is important to diagnose them as early as possible in cooperation with the city health welfare offices.
We described an 11-year-old boy with reflex sympathetic dystrophy (RSD). He presented symptoms of allodynia and hyperesthesia in the right foot with pale color and coldness. Before the onset he had abdominal pain and a change of taste. The symptoms were resistant to physical therapy and the right foot became atrophic. Intermittent lumber epidural anesthesia by an indwelling catheter was performed for three weeks after 5 months from the onset. Improvement of symptoms did not occur during the anesthesia, but did soon after that. The pathogenesis of RSD remains unknown, although a psychological factor may have been involved in this case. RSD in childhood is usually considered to be more responsive to conservative therapy. However, some children such as our patient are resistant to conservative therapy. Recognition of RSD and early interventions such as physical therapy and psychological approach are important. In intractable cases invasive approaches such as sympathetic blockade should be also considered.
We reported a 14-year-old girl who showed taste disturbance as an initial manifestation of Guillain-Barre syndrome (GBS). After an upper respiratory infection, she initially complained of taste disturbance, diplopia and salivation, followed by weakness in the legs and numbness in the extremities. On admission, she showed taste deficiency for sweet and sour sense, and a decline of salty and bitter taste. Weakness in the legs and disappearance of deep tendon reflexes were also noticed. We considered that the findings of electrophysiological examinations would conform to demyelinating features. Laboratory examinations revealed an increase of memory T cells in the peripheral blood and an elevated level of myelin basic protein in the cerebrospinal fluid. Based on clinical features and laboratory data, the diagnosis of GBS was made. We should keep taste disturbance in mind as one of the signs of GBS.