11/44. Intrauterine cerebral infarcts and bilateral frontal cortical leukomalacia following chronic maternal inhalation of carburetor cleaning fluid during pregnancy. Little is known about the effect of inhalation of methanol and other solvents on the pregnancy and the growth of the fetus. We report a preterm male infant who developed cerebral infarcts in utero, leading to large areas of bilateral frontal cortical leukomalacia following chronic maternal inhalation of carburetor-cleaning fluid during pregnancy. The infant presented with acute fetal distress with significant metabolic acidosis at birth. Initial hypotonia was followed by generalized hypertonicity. This infant did not exhibit typical facial features of fetal alcohol syndrome. ( info) |
| incontinentia pigmenti (IP) is a multisystem disorder with characteristic cutaneous signs. After the skin, the central nervous system is the next most affected system. We report a child with IP and left-sided hemiparesis and cerebral periventricular leukomalacia on magnetic resonance imaging (MRI). The MRI findings would support ischemia sustained perinatally. ( info) |
13/44. White matter alterations associated with chromosomal disorders. White matter alterations in chromosomal disorders have been reported mainly in 18q-syndrome. Our aim was to evaluate white matter alterations in patients with chromosomal abnormalities detected through conventional cytogenetic techniques. Forty-four patients with chromosomal abnormalities, excluding trisomy 21, were diagnosed in our hospital between May 1999 and December 2002 (24 males, 20 females; mean age 6 years 4 months [SD 3 years 2 months], range 0 to 18 years). Of the 44 patients, 14 had brain magnetic resonance imaging (12 males, 2 females; mean age 4 years 2 months [SD 4 years 4 months]; five with sex chromosomal disorders [SCD] and nine with autosomal chromosomal disorders [ACD]). Of these 14 patients, eight (four with SCD and four with ACD) had abnormal white matter findings of similar patterns. These patients had pseudonodular, subcortical, and periventricular white matter high signal intensity images in T2, and fluid-attenuated inversion recovery sequences that were isolated or confluent. The images did not correlate with the neurological clinical state. Given that eight of the 14 patients showed these lesions, their prevalence in different chromosomal abnormalities appears to be high, even though they have not been well reported in the literature. To our knowledge, these alterations have never been described in SCD. We concluded that unknown factors related to the myelination processes may be localized in different chromosomes. ( info) |
14/44. 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. ( info) |
15/44. 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. ( info) |
16/44. Fetal trauma: brain imaging in four neonates. The purpose of this paper is to describe brain pathology in neonates after major traffic trauma in utero during the third trimester. Our patient cohort consisted of four neonates born by emergency cesarean section after car accident in the third trimester of pregnancy. The median gestational age ( n=4) was 36 weeks (range: 30-38). Immediate post-natal and follow-up brain imaging consisted of cranial ultrasound ( n=4), computed tomography (CT) ( n=1) and post-mortem magnetic resonance imaging (MRI) ( n=1). pathology findings were correlated with the imaging findings ( n=3). Cranial ultrasound demonstrated a huge subarachnoidal hemorrhage ( n=1), subdural hematoma ( n=1), brain edema with inversion of the diastolic flow ( n=1) and severe ischemic changes ( n=1). In one case, CT demonstrated the presence and extension of the subarachnoidal hemorrhage, a parietal fracture and a limited intraventricular hemorrhage. Cerebellar hemorrhage and a small cerebral frontal contusion were seen on post-mortem MRI in a child with a major subarachnoidal hemorrhage on ultrasound. None of these four children survived (three children died within 2 days and one child died after 1 month). Blunt abdominal trauma during pregnancy can cause fetal cranial injury. In our cases, skull fracture, intracranial hemorrhage and hypoxic-ischemic encephalopathy were encountered. ( info) |
17/44. gait control in spinal palsy. Developmental motor impairment with lower limb spasticity most commonly corresponds to cerebral palsy of the spastic diplegia type. Here we describe a 4-year-old girl whose locomotor phenotype reflects early cortico-spinal lesion at the spinal level. This child has developmental spastic paraparesis secondary to D4-D8 cord compression. We analysed her gait using the ELITE optoelectronic system and compared it to that of six normal age-matched controls and six age-matched children with leucomalacic spastic diplegia. gait characteristics of the patient included preservation of head orientation and arm swing similar to findings in normal controls and contrasting with children with spastic diplegia. She also had truncal instability and displayed lack of selectivity in lower limb movement as in spastic diplegia and in contrast with normal controls. This may reflect differences in locomotor control between developmental spasticity of cerebral and spinal origin. The latter might correspond to spinal palsy defined as abnormal movement and posture secondary to non-progressive pathological processes affecting the immature spinal cord. ( info) |
| 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. ( info) |
19/44. Fumarase deficiency presenting with periventricular cysts. A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients. ( info) |
| zellweger syndrome (ZS), or cerebrohepatorenal syndrome, was the first described peroxisomal biogenesis disorder. It represents the most severe phenotype, and some of its multiple congenital anomalies can manifest prenatally. Fetal hypokinesia, renal hyperechogenicity, and cerebral ventricular enlargement are the most common reported fetal features. Single and/or late detectable manifestations account for most of the difficulties of prenatal diagnosis, as well as the limitations of ultrasonography itself. prenatal diagnosis, however, can be achieved through (1) assays of concentrations of peroxisomal metabolites (very-long-chain fatty acids, bile acids, intermediates, plasmalogens), (2) activities of peroxisomal enzymes (dihydroacetone-phosphate acyltransferase), or (3) molecular screening techniques, if available. We report on the contribution of MR imaging to the diagnosis of ZS in 2 unrelated fetuses. MR imaging was performed in the third trimester because of cerebral ventricular enlargement diagnosed on routine sonography examinations. In both cases, MR imaging revealed ZS-characteristic abnormal cortical gyral patterns, impaired myelination, and cerebral periventricular pseudocysts. In addition, MR imaging revealed renal microcysts and hepatosplenomegaly in one case. The high level of resolution of MR imaging, which allows analysis of cerebral gyration and myelination, facilitates the prenatal diagnosis of complex polymalformative syndromes such as ZS. ( info) |