1/19. Neonatal type of nonketotic hyperglycinemia.Two infants with the neonatal type of nonketotic hyperglycinemia that had manifested as early neonatal consciousness disturbance are presented. Transient hyperammonemia had been detected in both initially. High levels of glycine in plasma and cerebrospinal fluid disturb the nervous system, causing variable manifestations of this disease. Both cases were complicated by intracranial hemorrhage, which has never before been reported. After treatment with sodium benzoate and dextromethorphan, some neurologic improvement was observed, although the glycine levels did not lower. Recent clinical trials are reviewed, and because of the unfavorable outcomes, the special need for prenatal diagnosis is highlighted.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/19. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.- - - - - - - - - - ranking = 2.8933387690669keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/19. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts.Joubert syndrome is a rare genetic neurologic disorder associated with hypoplasia or absence of the cerebellar vermis. The classic form is characterized by ataxia, hypotonia, eye movement abnormalities, developmental delay, and abnormal breathing patterns. In contrast, other patients have the additional feature of kidney cysts. This population could represent a distinct form of Joubert syndrome. One case of Joubert syndrome with subcortical neuroepithelial cysts was recently described. We report a new case of Joubert syndrome with overlapping features, including diffuse progressive central nervous system neuroepithelial cysts and kidney cysts. Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts.- - - - - - - - - - ranking = 2.8933387690669keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/19. Merosin-deficient congenital muscular dystrophy in two siblings.Congenital muscular dystrophies are a group of heterogeneous inherited autosomal recessive disorders. The so-called 'pure' or 'occidental' form is further divided into merosin-positive and merosin-negative subgroups. Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system. The authors report two siblings with merosin-negative congenital muscular dystrophy. The clinical picture, biopsy findings, and abnormalities as detected by the magnetic resonance imaging of the two patients are presented.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
5/19. Acute flaccid paralysis: the spectrum of a newly recognized complication of West Nile virus infection.OBJECTIVES: Acute flaccid paralysis (AFP) has recently emerged as a major central nervous system complication associated with west nile virus (WNV) infection. The spectrum of clinical presentations of AFP in WNV infection and its sequelae have not been well-studied. methods: We describe three patients with AFP due to WNV infection and review the clinical presentations of 56 patients with this complication derived from published studies. RESULTS: patients with AFP and WNV presented with a spectrum of illness ranging from single extremity paralysis to quadriparalysis with cranial nerve involvement. patients commonly developed respiratory failure (54%) and bladder dysfunction (22%). While fever was nearly universal (92%), signs of meningismus were less common (17%). cerebrospinal fluid (CSF) analysis generally revealed a modest pleocytosis, and imaging studies were not diagnositic. Persistent neurologic impairment occurred in all survivors; overall mortality rate was high (22%) and was associated with both the extent of paralysis and advanced age. CONCLUSION: AFP in the setting of WNV is associated with significant mortality and long-term morbidity.- - - - - - - - - - ranking = 2.8933387690669keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/19. Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.OBJECTIVE: thyroid hormones, besides having other functions, are known to be essential for the development of the human brain. Recently the monocarboxylate transporter 8 (MCT8) was identified as a thyroid hormone transporter which is expressed in different regions of the human brain. Here we describe in detail the clinical and biochemical features in response to thyroid hormone administration of a boy carrying an MCT8 mutation (A150V) in the second transmembrane domain. methods: To study the functional impact of the mutation we performed triiodothyronine (T3) uptake, immunofluorescence and dimerization studies. RESULTS: Thyroid hormone (l-thyroxine (LT4) and LT3) administration did not result in any significant clinical changes; however, with high doses of LT4, alone or in combination with T3, TSH suppression was achieved. We could show a robust uptake of (125)I-T3 for wild type (WT) MCT8, whereas no specific uptake could be detected for the mutant A150V. Subcellular localization of WT and mutant MCT8 revealed a strong cell surface expression for the WT MCT8, in contrast to A150V, which is mostly retained intracellularly with only weak cell surface expression. We could also demonstrate for the first time that WT MCT8 as well as the mutant are able to form multimers. CONCLUSION: Our findings open a wide field of possible interaction within the central nervous system and will help to understand the crucial role of MCT8 in early fetal brain development.- - - - - - - - - - ranking = 2.8933387690669keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/19. Shah-waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.Shah-waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoid (hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (waardenburg syndrome). Mutations in the EDN, EDNRB and SOX10 genes can be found in patients with this syndrome. SOX10 mutations are specifically associated with a more severe phenotype called PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, and hirschsprung disease. Neuronal expression of SOX10 occurs in neural crest cells during early embryonic development and in glial cells of the peripheral and central nervous systems during late embryonic development and in adults. We present a 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10. Main clinical features were mental retardation, peripheral neuropathy, deafness, hirschsprung disease, distal arthrogryposis, white hairlock, and growth retardation. She presented with hypotonia, developmental delay, reduced peripheral nerve conduction velocities, and radiologically assessed central hypomyelination. Subsequently, the formation of abnormal myelin within the central and peripheral nervous system was functionally and radiologically assessed. Children presenting with features of waardenburg syndrome and neurological dysfunction should be tested for mutations in the SOX10 gene to enable diagnosis and counselling.- - - - - - - - - - ranking = 3.8933387690669keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/19. Pediatric macrophagic myofasciitis associated with motor delay.BACKGROUND: Macrophagic myofasciitis (MMF) is a rare inflammatory myopathy characterized by accumulation of perifascicular macrophages without muscle fiber necrosis. Few sporadic pediatric cases have been described, and MMF is recognized as a possible reaction to intramuscular injections of aluminum-containing vaccines. The association of MMF and motor delay is unclear in the pediatric population. We report the clinical evaluation and follow-up of 4 young children with MMF and review of 4 cases previously reported of sporadic, pediatric MMF to better determine the possible association of sporadic MMF in children presenting with motor delay. patients AND methods: Described our 4 case reports in which we observed children presenting for evaluation of motor delay with unrevealing clinical and laboratory evaluations for common causes of motor delay and histopathological evaluations consistent with macrophagic myofasciitis. Muscle data was obtained by quadriceps muscle biopsy. RESULTS: Clinical presentations were similar in all children and were characterized by motor delay, hypotonia, and failure to thrive with an unrevealing evaluation for central nervous system disease, congenital, and mitochondrial myopathies. CONCLUSIONS: Our cases and those previously reported in the literature demonstrate MMF should be considered in the evaluation of children with failure to thrive, hypotonia, and muscle weakness, as clinical outcome appears to be favorable.- - - - - - - - - - ranking = 2.8933387690669keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/19. giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings.giant axonal neuropathy is a progressive central-peripheral axonopathy characterized by distention of axons by aggregated neurofilaments. We report two female siblings with giant axonal neuropathy. Both patients developed symptoms of a chronic progressive polyneuropathy at age 3 years. Clinical evidence of central nervous system involvement was present in both cases. autopsy neuropathologic examination of the older sibling at the age of 11 years revealed numerous giant axons, Rosenthal fibers, and gliosis throughout the brain and spinal cord and typical giant axons in the peripheral nerves. Electrophysiologic studies in the younger sibling indicated brain stem dysfunction, and her sural nerve biopsy revealed enlarged axons packed with neurofilaments. These patients illustrate that neurologic deficits of giant axonal neuropathy result from widespread lesions in the central, as well as peripheral (including autonomic), nervous systems. This occurrence of giant axonal neuropathy in two siblings supports a genetic origin of this disease. This is the first report of autopsy findings in giant axonal neuropathy in an affected sibling.- - - - - - - - - - ranking = 3.8933387690669keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/19. toluene embryopathy: two new cases.toluene embryopathy is characterised by microcephaly, central nervous system dysfunction, attentional deficits and hyperactivity, developmental delay with greater language deficits, minor craniofacial and limb anomalies, and variable growth deficiency. Previously, three affected children, born to women who inhaled toluene regularly throughout pregnancy, have been reported. Two more cases are described emphasising the importance of toluene as a potential human teratogen.- - - - - - - - - - ranking = 2.8933387690669keywords = central nervous system, nervous system (Clic here for more details about this article) |
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