Cerebral Palsy

PURPOSE: The purpose of this study was to evaluate molecular evidence of nigrostriatal pathway involvement in Japanese encephalitis (JE) survivors with movement complications. METHODS: Three JE patients were recruited. All had cranial magnetic resonance imaging (MRI) and single-photon emission computed tomography (SPECT) studies with (99m)Tc-TRODAT-1 and (123)I-IBZM. RESULTS: Cranial MRI revealed involvement of bilateral thalami, substantia nigra, and medial temporal lobes in all three patients, but only case 1 had additional bilateral basal ganglia involvement. The (99m)Tc-TRODAT-1 SPECT for presynaptic dopamine transporter imaging disclosed asymmetrical decreases in bilateral striatal uptake in all three patients. However, the (123)I-IBZM SPECT imaging for postsynaptic D2 dopamine receptors (D2Rs) revealed inconsistent abnormalities including asymmetrical bilateral decreases (case 1), unilateral decrease (case 2), and bilateral increases (case 3) in striatal uptakes. CONCLUSION: Data have suggested that presynaptic dopaminergic neurons in JE patients are more susceptible to JE virus than postsynaptic striatal neurons. The degree of movement impairment was more closely correlated to the degree of D2Rs disruption seen in (123)I-IBZM SPECT imaging.

The objective of this study was to review retrospectively cases of clinically blind children in whom robust pattern visual evoked potentials (VEPs) were recorded. VEP records from a 10-year period (1990-2000) were reviewed. We searched for charts of children who were clinically cortically blind, but in whom assessment of visual acuity, using visual evoked potentials (VEPs), was normal or close to normal. The majority (77.5%) of VEP and behavioral acuity measures were concordant (subset analysis). Of the 1,113 VEP records, 9 cases (<1% of records reviewed) had clinically compromised vision with fair to good levels of visual function using VEPs. The commonality among the cases was the presence of suspected cortical visual impairment with seizures and developmental delay. VEP acuity cannot be correlated unequivocally with visually guided behaviour. In specific cases, particularly cases with developmental delay and neuroradiographic abnormalities, a child who is behaviorally blind with no clinical evidence of vision may show robust VEPs even to small patterns. This finding might be consistent with a defect of the visual association cortex.

Examining the patients with a new variant of endemic pemphigus foliaceus (EPF) in El Bagre, Colombia, (El Bagre-EPF), we noted several polymorphic clinical lesions around their axillary areas. Based on our clinical findings and on previous histopathological studies on the skin of these patients that showed abnormalities in their sweat glands, and the presence of mercuric selenides and iodines by autometallography assay, we decided to investigate immunoreactivity to the sweat glands in these patients. We tested for autoreactivity utilizing direct and indirect immunofluorescence (DIF, IIF). To be able to distinguish between non-specific immune deposits and real autoimmune response, and knowing that sweat glands have some intrinsic autofluorescence for the presence of lipofuscin granules (that naturally fluoresce under the UV light microscope), as well as by the presence of secretory IgA, we used simultaneously immunohistochemistry (IHC). We tested ten El Bagre-EPF patients, ten healthy controls from the endemic area and ten healthy controls from the United States. We were able to visualize a specific autoreactivity to sweat glands in 8/10 cases of El Bagre-EPF by DIF, IIF and by IHC. In addition when using anti-human monoclonal antibodies to CD3, CD68, and CD20, we confirmed the presence of several specific immune responses in situ, an around the sweat glands. No healthy control cases yielded positive findings. In some chronic cases, decrease and sometimes a complete absence of sweat glands and other skin appendices was found. In addition to this, sclerodermoid changes or early sclerodermatous changes sometimes extending into the adipose tissue as a membranous lipodystrophy were observed. Autoreactivity to the neurovascular components around the sweat glands were also observed. Our data demonstrate for the first time that there is immunoreactivity toward sweat glands in El Bagre-EPF patients that seems to destroy some of these structures.

BACKGROUND: Epididymitis is most commonly idiopathic but can also be associated with urinary tract abnormalities (UTAs). The distinctive clinical and imaging findings of children with epididymitis and underlying UTAs are not known. OBJECTIVE: To describe clinical and imaging findings in children with epididymitis and the association with UTAs. MATERIAL AND METHODS: The study group included all children evaluated for epididymitis confirmed by scrotal US in a 6-year period. The clinical and imaging findings and disease recurrence were compared between children with and without UTAs. RESULTS: A total of 47 boys (mean/SD 9.61/4.40 years, range 0.1 to 17.1 years) met the entry criteria, of whom 17 had UTAs. The most common UTAs were hypospadias, neurogenic bladder, and functional bladder abnormality (six each). Age at presentation and likelihood of testicular swelling or hydrocele was not different between children with and without UTAs. Marked epididymal swelling was more common in children with UTAs (9/17, 53%) than in those without UTAs (5/30, 17%; P=0.02), as was recurrent epididymitis (with UTAs, 9/17, 53%; without UTAs, 5/30, 17%; P=0.02). Chronic epididymitis (five children), presentation with scrotal mass (four), and epididymal abscess (two) occurred only in children with UTAs. CONCLUSION: Children with epididymitis who have UTAs are more likely to present with marked epididymal swelling, develop recurrent disease, and have a more protracted course.

Constitutional trisomy 8 mosaicism (46,XX/47,XX,+8 or 46,XY/47,XY,+8) is characterized by trisomic distribution of chromosomes in some but not all cells of the body. The full condition presents with physical stigmata, skeletal abnormalities and a mild to moderate cognitive impairment.Here we present a boy aged 3 years 10 months with partial trisomy 8 who was referred because of a language impairment. Because of known anomalies (corpus callous agenesis, deformities of the spine) a chromosomal analysis was initiated.This case highlights the necessity for an interdisciplinary diagnostic approach in children with language impairment and other constitutional disorders.

BACKGROUND: The increase in survival of premature newborns has sparked growing interest in the prediction of their long-term neurodevelopment. OBJECTIVE: To estimate the incidence of neuromotor abnormalities at the corrected age of 12 months and to identify the predictive factors associated with altered neuromotor development in very low birth weight premature infants. METHOD: Cohort study. The sample included 100 premature infants. The outcome was neuromotor development at 12 months classified by Bayley Scale (PDI) and neurological assessment (tonus, reflexes, posture). A multivariate logistic regression model was constructed. Neonatal variables and neuromotor abnormalities up to 6 months of corrected age were selected by bivariate analysis. RESULTS: Mean birth weight was 1126g (SD: 240). Abnormal neuromotor development was presented in 60 children at 12 months corrected age. CONCLUSION: According to the model, patients with a diagnosis including bronchopulmonary dysplasia, hypertonia of lower extremities, truncal hypotonia showed a 94.0% probability of neuromotor involvement at 12 months.

OBJECTIVE: To evaluate the effectiveness of the vestibular rehabilitation (VR) exercises by means of an assessment before and after the application of the Brazilian version of the Dizziness Handicap Inventory (DHI) questionnaire. METHOD: Twelve patients were studied, the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluation, and the application of the DHI before and after the VR. RESULTS: Clinically resting tremors and subjective postural instability were the motor complaints most frequently associated with complaints of vertigo in 12 cases (100%); in the vestibular exam, all the patients presented abnormalities, frequently from the uni and bilateral peripheral vestibular deficiency syndromes in 10 cases (83.3%); there was significant improvement in the physical, functional and emotional aspects of the DHI after the completion of the VR. CONCLUSION: The VR following the Cawthorne and Cooksey protocol were shown to be useful in managing subjective complaints of several aspects evaluated in this protocol.

Of the many risk factors suggested for sudden unexpected death in epilepsy (SUDEP), higher frequency of seizures is a very consistent issue. Following this reasoning, it has been established that hemodialysis-associated seizure is a complication of dialysis procedure. Based on these facts, this study investigated a possible association between cardiovascular abnormalities and SUDEP among patients with chronic renal insufficiency in regular hemodialysis program. For that, a retrospective medical history of 209 patients was reviewed to investigate the occurrence of convulsive seizures and EKG abnormalities during dialytic program. Three patients presented generalized tonic-clonic seizures, one had partial seizure with secondary generalization, and one presented unclassified seizure. Any EKG abnormalities and SUDEP event were found in all patients evaluated. In conclusion, the present findings demonstrated uncommon the occurrence of seizures and also SUDEP. Probably, the main justification to not allow us to demonstrated a direct relation between SUDEP and cardiovascular diseases in hemodialysis are the reduced number of cases examined.

The adhesion molecule L1 is one of the few adhesion molecules known to be beneficial for repair processes in the adult central nervous system of vertebrates by promoting axonal growth and neuronal survival. In the peripheral nervous system, L1 is up-regulated by myelination-competent Schwann cells and regenerating axons after nerve damage but its functional role has remained unknown. Here we tested the hypothesis that L1 is, as in the central nervous system, beneficial for nerve regeneration in the peripheral nervous system by performing combined functional and histological analyses of adult L1-deficient mice (L1y/-) and wild-type (L1y/+) littermates. Contrary to our hypothesis, quantitative video-based motion analysis revealed better locomotor recovery in L1y/- than in L1y/+ mice at 4-12 weeks after transection and surgical repair of the femoral nerve. Motoneuron regeneration in L1y/- mice was also enhanced as indicated by attenuated post-traumatic loss of motoneurons, enhanced precision of motor reinnervation, larger cell bodies of regenerated motoneurons and diminished loss of inhibitory synaptic input to motoneurons. In search of mechanisms underlying the observed effects, we analysed peripheral nerves at short time-periods (3-14 days) after transection and found that Schwann cell proliferation is strongly augmented in L1y/- versus L1y/+ mice. L1-deficient Schwann cells showed increased proliferation than wild-type Schwann cells, both in vivo and in vitro. These findings suggest a novel role for L1 in nerve regeneration. We propose that L1 negatively regulates Schwann cell proliferation after nerve damage, which in turn restricts functional recovery by limiting the trophic support for regenerating motoneurons.

Brain microglia are related to peripheral macrophages but undergo a highly specific process of regional maturation and differentiation inside the brain. Here, we examined this deactivation and morphological differentiation in cerebral cortex and periventricular subcortical white matter, the main “fountain of microglia” site, during postnatal mouse development, 0-28 days after birth (P0-P28). Only macrophages in subcortical white matter but not cortical microglia exhibited strong expression of typical activation markers alpha5, alpha6, alphaM, alphaX, and beta2 integrin subunits and B7.2 at any postnatal time point studied. White matter phagocyte activation was maximal at P0, decreased linearly over P3 and P7 and disappeared at P10. P7 white matter phagocytes also expressed high levels of IGF1 and MCSF, but not TNFalpha mRNA; this expression disappeared at P14. This process of deactivation followed the presence of ingested phagocytic material but correlated only moderately with ramification, and not with the extent of TUNEL+ death in neighboring cells, their ingestion or microglial proliferation. Intravenous fluosphere labeling revealed postnatal recruitment and transformation of circulating leukocytes into meningeal and perivascular macrophages as well as into ramified cortical microglia, but bypassing the white matter areas. In conclusion, this study describes strong and selective activation of postnatally resident phagocytes in the P0-P7 subcortical white matter, roughly equivalent to mid 3rd trimester human fetal development. This presence of highly active and IGF1- and MCSF-expressing phagocytes in the neighborhood of vulnerable white matter could play an important role in the genesis of or protection against axonal damage in the fetus and premature neonate. (c) 2009 Wiley-Liss, Inc.