1/16. Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient.A white Italian boy, aged 5 years and 8 months, is reported with failure to thrive, hypotonia, truncal ataxia, psychomotor retardation, and congenital horizontal pendular nystagmus with only waves I and II on auditory brainstem responses. Our patient's clinical picture resembles that previously reported in 10 male Oriental patients. He did not manifest spastic diplegia by the age of 2 years, as did the subjects reported in the literature, but knee-jerk hyperreflexia was evident at the most recent clinical reevaluation. Serial brain MRI studies revealed a cystic brain lesion and peritrigonal hyperintensities with no brainstem abnormalities. To date, no other child with a similar syndrome has been described either in europe or in America. The clinical features of this condition are consistent and characteristic. A definitive diagnosis is achieved by demonstrating the absence of all waves following wave I or wave II on auditory brainstem responses as early as 3 months of age. Due to the predominance of males, the occurrence in siblings, the early age at onset, the non-progressive course, and the characteristic auditory brainstem response findings, the syndrome may have a genetic origin and be attributable to a dysgenetic brainstem lesion.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/16. magnetic resonance imaging findings in cerebral palsy.OBJECTIVE: To review all cases of cerebral palsy (CP) that had magnetic resonance imaging (MRI) over a defined period of time. METHODOLOGY: The MRI brain scans of 42 children (12 premature, 30 full-term) with CP were studied. The scans were performed at the Royal Children's Hospital, Melbourne, between January 1995 and June 1996. RESULTS: Abnormalities were found in 39 of the 42 scans. Five children had cortical malformations and three children had white matter hypoplasia, indicating insults during the second trimester of pregnancy. Twenty-one children had hypoxic-ischaemic lesions (eight premature, 13 full-term) with patterns of periventricular leucomalacia, subcortical lesions or cortical infarction indicating insults perinatally or in the third trimester. Only 10 children had scans that could not be categorized into these groups. CONCLUSIONS: In this study sample of children with CP, MRI was useful in revealing underlying brain abnormalities, most of which were due to events in the third trimester or the perinatal period.- - - - - - - - - - ranking = 0.2keywords = white (Clic here for more details about this article) |
3/16. scurvy: a case report.An 8-year-old child with cerebral palsy came with progressive purpuric rash affecting the trunk and legs. He had tenderness on palpation of his extremities. physical examination revealed a moderately pale and cachectic boy. There was bleeding per swollen gums and petichiae on the hard palate. Generalized multiple discrete palpable petichiae spots at hair follicles along the whole body, more on both legs, were observed. He also had tenderness on palpation of his extremities. His hemoglobin was 6.6 g/dl. platelet count and coagulogram were normal. Roentgenographic findings showed generalized osteoporosis, metaphyseal white line of distal femur, proximal tibia. proximal fibula, distal radius, and distal ulna with submetaphyseal lucency bilaterally. skin biopsy showed dilated hair follicles, filled with keratinous material and a small corkscrew hair. A diagnosis of scurvy was made; and vitamin C at a dosage of 300 mg per day was given. His swollen gums, bleeding per gums and muscle tenderness improved within 2 days. Perifollicular hemorrhage, follicular hyperkeratosis, and anemia improved in 2 and 3 weeks respectively.- - - - - - - - - - ranking = 0.2keywords = white (Clic here for more details about this article) |
4/16. Lipid myopathy associated with renal tubular acidosis and spastic diplegia in two brothers.Lipid myopathy is a group of disorders involving mitochondrial fatty acid oxidation. We describe two brothers, 3 years 8 months old and 2 years 9 months old, respectively, with progressive spastic diplegia, developmental delay, failure to thrive, and chronic metabolic acidosis who had lipid myopathy and renal tubular acidosis. Brain magnetic resonance imaging revealed demyelinating changes in the periventricular white matter, which was compatible with spastic diplegia. These symptoms may be related to errors in fatty acid metabolism. cerebral palsy had been misdiagnosed in both of these patients at another hospital. Therefore, for patients with late-onset and progressive spastic diplegia, detailed investigations for underlying diseases are warranted.- - - - - - - - - - ranking = 0.2keywords = white (Clic here for more details about this article) |
5/16. cerebral palsy and juvenile-onset bipolar disorder. A preliminary report.cerebral palsy refers to a heterogeneous group of congenital and early acquired brain disorders. Children with cerebral palsy and other brain disorders have an increased rate of psychiatric disorder. The pattern of disorder is not particularly distinctive and no specific association has been found. We report two cases of spastic diplegia of prematurity comorbid with juvenile onset bipolar disorder, which highlight some of the diagnostic difficulties in these cases. An interesting association between the periventricular leucomalacia as an aetiological factor in cerebral palsy and the white matter lesions seen on magnetic resonance imaging in cases of bipolar disorder is noted.- - - - - - - - - - ranking = 0.2keywords = white (Clic here for more details about this article) |
6/16. Diffusion tensor magnetic resonance imaging of microstructural abnormalities in children with brain injury.We present two pediatric cases demonstrating that diffusion tensor imaging is more efficient at revealing microstructural abnormalities of the brain than conventional magnetic resonance imaging because it enables measurements of the directionality and integrity of white matter fiber tracts. One patient suffered from left hemiparesis, and the other had right hemiparesis. However, whereas conventional magnetic resonance imaging showed only the findings of traumatic contusional hemorrhages in the left temporal and parietal lobes of the first patient and focal encephalomalacia in the left anterior thalamus of the second patient, diffusion tensor imaging successfully disclosed microstructural abnormalities in the right cerebral peduncle of the midbrain of the first patient and in the posterior limb of the left internal capsule of the second. Theses two cases demonstrate that diffusion tensor imaging is more capable than magnetic resonance imaging at detecting the microstructural pathologic lesions that are responsible for clinical motor weakness, especially when conventional magnetic resonance imaging has failed to detect subtle structural abnormalities.- - - - - - - - - - ranking = 0.2keywords = white (Clic here for more details about this article) |
7/16. Motor outcome differences between two groups of children with spastic diplegia who received different intensities of early onset physiotherapy followed for 5 years.The objective of this study is to determine the clinical effectiveness of early onset long-term intensive physiotherapy on motor development in children with spastic diplegic cerebral palsy (CP). The study was a non-randomized cohort study with 62 months (mean) follow-up. The participants were ten infants who were first examined before 3 months of age corrected for prematurity. All had a gestational age of less than 33 weeks and a birth weight of less than 2000 g. Brain magnetic resonance imaging revealed periventricular white matter injury in nine subjects and moderate grade bilateral porencephaly in one. Five completed a full course of training of 52 months (mean), two did not receive therapy, and three received an insufficient course of therapy. The study was conducted at the Regional Center for Children with Disabilities including outpatient clinics and a school for children with special needs. The Vojta Method was used, which is an extensive family oriented physiotherapy program which uses isometric strengthening of muscles with tactile stimulation. Subjects were evaluated for the highest motor developmental level at the outcome evaluation 59 months (mean) after initiation of therapy. Four of the five who completed training could either stand still for 5 s or walk at the time of the outcome evaluation 52 months after the beginning of the therapy program. None of the five subjects with no training or insufficient training could accomplish this task when evaluated 64 months following therapy initiation. This was a statistically significant difference (P = 0.0278). A consistently applied physiotherapy program resulted in better motor outcomes in this group of children at risk for developing spastic diplegic CP.- - - - - - - - - - ranking = 0.2keywords = white (Clic here for more details about this article) |
8/16. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.A 19-month-old boy with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a defect of isoleucine degradation, had cognitive and motor development delay, spastic diplegia, dysmorphism, and occipital periventricular white matter lesions on MRI scan of the brain. The urinary accumulation of the isoleucine metabolites 2-methyl-3-hydroxybutyrate and tiglylglycine was only moderate under basal conditions. These abnormalities became more pronounced after a 100mg/kg oral isoleucine challenge. Enzyme studies showed a markedly decreased activity of MHBD in fibroblasts and lymphocytes. sequence analysis of the involved X-chromosome gene (HADH2), revealed the presence of 364C -->G mutation in the patient. His mother was heterozygous for the 364C-->G mutation, whereas the mutation was not found in the other members of the family (father, brother, and sister). This report indicates that an enzyme defect in the metabolism of branched-chain fatty acid oxidation and isoleucine may present features resembling sequelae of neonatal hypoxic-ischemic brain injury. All patients with MHBD deficiency identified so far are characterized by a neurologic phenotype rather than ketoacidotic attacks, unlike patients with the related isoleucine defect beta-ketothiolase deficiency.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
9/16. MRI of patients with cerebral palsy and normal CT scan.Three children with clinical evidence of cerebral palsy (CP) and normal cerebral computed tomography (CT) scans were evaluated by magnetic resonance imaging (MRI) to identify CT-undetectable white matter lesions in the watershed zones of arterial territories. The two patients with spastic diplegia showed bilateral lesions either in the subcortical regions or in the occipital periventricular regions. The patient with congenital hemiplegia exhibited unilateral lesions in the periventricular region. We conclude that MRI is more informative than CT for the evaluation of patients with CP.- - - - - - - - - - ranking = 0.2keywords = white (Clic here for more details about this article) |
10/16. Sequelae of perinatal central nervous system damage after long-term survival.We presented the case of a 78-year-old man with mental retardation and spastic paraparesis diagnosed early in life as cerebral palsy. Six years prior to demise he had post-traumatic subdural hematoma, which was removed surgically. The neuropathological examination revealed the sequelae of the recent trauma, superimposed on the extensive old lesions. Cavitary changes in the periventricular white matter and cortical ulegyria in the border zones of the major cerebral arteries vascularization were characteristic of perinatal hypoxic-ischemic lesions. Peculiar in the ulegyria were extensive areas with numerous corpora amylacea adjacent to the areas of fibrillar and cellular gliosis. Another sequelae of involution processes was the atrophy of brain hemispheres (secondary microcephaly). The case appears to be an example of the late degenerative involution changes developing on the background of lesions originated from the perinatal period.- - - - - - - - - - ranking = 0.2keywords = white (Clic here for more details about this article) |
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