Neuropediatrics (NEUROPEDIATRICS)

Publications in this journal

• Article: Urethral extrusion of a peritoneal catheter in a patient with a neobladder: a rare complication of shunt insertion.

  de Aguiar GB, Mizrahi C, Aquino JH, Tavares CM, Telles C, Nigri F, Acioly MA
  Neuropediatrics 01/2011; 42(3):124-7.
• Article: Late cerebral graft versus host reaction in a bone marrow transplanted girl with Hurler (MPS I) disease.

  M Kyllerman, K Himmelmann, A Fasth, C Nordborg, J-E Månsson
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  ABSTRACT: A girl with Hurler disease (MPS IH) underwent allogeneic stem cell transplantation at 13 months of age with her one HLA-B antigen mismatch mother as donor. The procedure was complicated by cerebral hemorrhage and a ventricular-peritoneal shunt device was inserted. Mild GVH reactions were rapidly reversed. One year after transplantation ventriculitis was suspected and the shunt was replaced by a ventricular drainage catheter. Antibiotics had no effect and graft-versus-host disease (GVHD) was diagnosed. All symptoms were reversed by prednisolone and cyclosporine. Increased albumin and pleocytosis in the cerebrospinal fluid (CSF) normalized concomitantly. Electron microscopy of the CSF sediment showed debris consisting of numerous complex aggregates of thin lamellae and electron dense fragments with a tight lamellar texture. Biochemical analysis of the CSF sediment proved that the debris contained galactosylceramide and sulfatide. The electron microscopic and biochemical findings were interpreted to represent stripping of central myelin as a result of subacute GVHD in the central nervous system and its desquamation from the brain parenchyma into the ventricular CSF through the post-hemorrhage defect. From reversal of the GVHD at 2 years of age until follow-up at 10 years of age the clinical condition remained stable with no recurrence or deterioration.
  Neuropediatrics 11/2008; 39(5):249-51.
• Article: Biotin-responsive basal ganglia disease: case report and review of the literature.

  T I El-Hajj, P E Karam, M A Mikati
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  ABSTRACT: Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and responded better to lower doses of biotin, compared to the cases reported previously. Since our case showed differences with those in the literature, it might represent a new entity or a milder form of the same entity.
  Neuropediatrics 11/2008; 39(5):268-71.
• Article: Giant congenital melanocytic nevus coexistent with Chiari II malformation.

  C Cai, Q Zhang, W Yang, C Shen
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  ABSTRACT: Giant congenital melanocytic nevus (GCMN) and Chiari II malformation (CM II) are distinct rare clinical entities. No previous report of this condition is to be found in the medical literature. We report the case of a male infant seen initially for a GCMN and an upper thoracic myelomeningocele. MRI incidentally revealed cerebellum and brain stem elongate via the foramen magnum. The infant's physical examination included spastic quadriparesis and hypotonia. An operation for myelomeningocele repair and suboccipital craniectomy with resection of C (1) and cerebellar tonsils was done. The signs and symptoms of the patient were improved after surgery. The GCMN was not treated according to the parents' wished, but a schedule of long-term monitoring was recommended. This case report illustrates that CMNs can coexist with CM II. The clinician who diagnoses a patient with CMNs should remember that this entity can be associated with other pathologies of the central nervous system. Earlier diagnosis and surgical intervention improves the prognosis. Long-term monitoring and follow-up should be recommended for patients with CMNs.
  Neuropediatrics 11/2008; 39(5):272-5.
• Article: (Re-)organization of basal ganglia in congenital hemiparesis with ipsilateral cortico-spinal projections.

  H Juenger, W Grodd, I Krägeloh-Mann, M Staudt
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  ABSTRACT: In congenital hemiparesis after pre- or perinatally acquired unilateral brain lesions, many patients control their paretic hand via ipsilateral cortico-spinal projections from the contralesional hemisphere. In order to clarify the pattern of basal ganglia activation in case of such a shift of the primary motor cortical representation (M1) of the paretic hand to the contralesional hemisphere, fMRI was performed in eight patients with congenital hemiparesis due to unilateral periventricular white matter lesions and ipsilateral corticospinal projections to the paretic hand (as determined by focal transcranial magnetic stimulation). FMRI during active movements of the paretic hand yielded basal ganglia activation in the ipsilateral (=contralesional) hemisphere, but not in the contralateral (lesioned) hemisphere. Thus, (re-)organization in congenital hemiparesis with ipsilateral cortico-spinal projections includes, in addition to the ipsilateral primary motor cortex (M1), also the ipsilateral basal ganglia - in contrast to the primary somatosensory cortex (S1), which is typically preserved in the affected hemisphere.
  Neuropediatrics 11/2008; 39(5):252-8.
• Article: Serial MR imaging and 1H-MR spectroscopy in monozygotic twins with Tay-Sachs disease.

  A Imamura, H Miyajima, R Ito, K O Orii
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  ABSTRACT: Four-year-old monozygotic female twins with early onset Tay-Sachs disease are described. The sisters showed similar slowly progressive clinical symptoms and deterioration, however the younger sister also demonstrated intractable myoclonus in the right leg. The serial MR images and (1)H-MR spectroscopy of the brain were obtained in both twins. MR images showed high intensity on T (2)-weighted image in the bilateral white matter, however there were no signal changes in the basal ganglia and thalamus during any of the phases. The ratio of N-acetylaspartate (NAA)/creatine (Cr) was decreased in the both white matter lesions and the corpus striatum, and that of myoinositol (mI)/Cr was increased in the damaged white matter on MR spectroscopy. The elevation of the lactate peak was clearly demonstrated in the left basal ganglia of the younger sister; however it was not shown in cerebral lesions of the elder sister. Changes in metabolites on MR spectroscopy were closely linked to the respective clinical features of each twin. Follow-up examination by (1)H-MR spectroscopy is useful for the evaluation of neuronal changes in children with Tay-Sachs disease.
  Neuropediatrics 11/2008; 39(5):259-63.
• Article: Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.

  G Kluger, R Blank, K Paul, E Paschke, E Jansen, C Jakobs, H Wörle, B Plecko
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  ABSTRACT: We report on a male proband with pyridoxine-dependent epilepsy (PDE) and neonatal seizure onset. At the age of 31 months, a prolonged status epilepticus led to severe neurological regression with cortical blindness, loss of speech and muscular hypotonia with slow recovery over the following 3 months. At 33 months of age pyridoxine therapy was initiated with excellent response and the boy remained seizure-free on pyridoxine monotherapy, except for two occasions with seizure recurrence 10 days after accidental pyridoxine withdrawal. alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency was indicated by elevated pipecolic acid concentrations in plasma and alpha-aminoadipic semialdehyde excretion in urine. Molecular analysis of the antiquitin gene revealed a novel missense mutation c.57insA, while the mutation of the other allele remained unidentified so far. Despite the delay in diagnosis and prolonged status epilepticus, neuropsychological evaluations at the ages of 11 and 18 years demonstrated full-scale IQ of 93 and 92, respectively, with better verbal IQ (103 and 101) than performance IQ (85 and 82).
  Neuropediatrics 11/2008; 39(5):276-9.
• Article: Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China.

  J Yuan, H Takashima, I Higuchi, K Arimura, N Li, Z Zhao, H Shen, J Hu
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  ABSTRACT: We report a family and a single patient in China involved with merosin-deficient congenital muscular dystrophy (MDC1A) with typical clinical symptoms. Pathological analysis of biopsied skeletal muscle showed dystrophic changes with proliferated fibrotic tissue elements as the predominant finding. Immunohistochemical analysis demonstrated the complete absence of the laminin alpha2 chain (merosin) around muscle fibers. In patient 1, a double mutation, c.[9101_9104dupAACA:3412G>A] p.[H3035QfsX4:V1138M] was detected, whereas her parents and another sibling were heterozygous carriers. Patient 2 had a novel homozygous nonsense mutation, c.2907C>A (p.Cys969X), in exon 21. The genotype-phenotype correlation of Chinese children with novel merosin-deficient congenital muscular dystrophy is reported.
  Neuropediatrics 10/2008; 39(5):264-7.
• Article: Pilomyxoid astrocytoma of the spinal cord with cerebrospinal fluid and peritoneal metastasis.

  S Arulrajah, T A G M Huisman
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  ABSTRACT: Pilomyxoid astrocytoma (PMA) is a recently described rare tumor which is a variant of pilocytic astrocytoma (PA). It exhibits a more aggressive behavior than PA. Spinal cord PMA has been reported in two articles in the past and none of the reported case had extraneural metastasis. We report on a female child with cervical cord PMA with diffuse leptomeningeal metastasis involving the brain and spinal cord. Two years later she presented with peritoneal carcinomatoses which was consistent with metastatic tumor via a ventriculoperitoneal (VP) shunt. This case confirms the aggressive behavior of PMA and makes clinicians aware of the possibility of extraneural, peritoneal metastasis through a VP shunt.
  Neuropediatrics 09/2008; 39(4):243-5.
• Article: Diffusion-weighted magnetic resonance imaging in infants with periventricular leukomalacia.

  H Kidokoro, T Kubota, H Ohe, T Hattori, Y Kato, Y Miyajima, A Ogawa, A Okumura, K Watanabe, S Kojima
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  ABSTRACT: We examined diffusion-weighted magnetic resonance imaging (DWI) findings in periventricular leukomalacia (PVL) and then evaluated the relationship between the mean apparent diffusion coefficient (ADC) values and the region and severity of PVL. Between April 2006 and July 2007, 98 infants at gestational ages between 27 and 33 weeks were enrolled in the study. DWI was performed during the first week of life when electroencephalography indicated PVL. The mean ADC values were evaluated using regions of interest drawn manually in the periventricular white matter, posterior limbs of internal capsules (PLICs), and various regions of the brain. DWI was performed in three of four infants with PVL indicated on electroencephalography. All had decreased diffusivity in the anterior to posterior white matter despite a predominance in the posterior white matter. DWI abnormalities were also observed in the corpus callosum and PLICs and were more broadly distributed in the brain than those detected by later conventional MRI. In the PLICs, the changes in the ADC values were correlated with the severity of the PVL. The DWI findings provided additional information regarding PVL. Among the findings, the association of the presence of decreased diffusivity in the corticospinal tract with later motor impairment was the most interesting.
  Neuropediatrics 09/2008; 39(4):233-8.
• Article: ABC transporter (P-gp/ABCB1, MRP1/ABCC1, BCRP/ABCG2) expression in the developing human CNS.

  M Daood, C Tsai, M Ahdab-Barmada, J F Watchko
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  ABSTRACT: P-glycoprotein (P-gp/ABCB1), multidrug resistance associated protein 1 (MRP1/ABCC1), and breast cancer resistance protein (BCRP/ABCG2) are plasma membrane efflux pumps that limit the intracellular uptake and retention of numerous lipophilic, amphipathic xeno- and endobiotics. Little is known about the neonatal and developmental expression of P-gp/ABCB1, MRP1/ABCC1, and BCRP/ABCG2 in the human central nervous system (CNS), therefore post-mortem CNS tissue from infants born at 22 (0/7)-42 (0/7) weeks of gestation and adults was immunostained to determine their ontogeny and cellular localization. P-gp/ABCB1 immunostaining was observed in microvessel endothelial cells as early as 22 (0/7) weeks, increasing in prevalence and intensity with maturation, and later in gestation in large pyramidal neurons. MRP1/ABCC1 immunostaining was prominent early in the choroid plexus and ventricular ependyma, and noted later in large pyramidal neurons. BCRP/ABCG2 expression was limited to microvessel endothelial cells. P-gp/ABCB1, MRP1/ABCC1 and BCRP/ABCG2 in adult brain matched term newborn CNS but with more intense immunostaining. We conclude that P-gp/ABCB1, MRP1/ABCC1, and BCRP/ABCG2 are expressed in a developmental, cell specific, fashion in the human CNS. The complementary pattern of P-gp/ABCB1 and BCRP/ABCG2 at the blood-brain with MRP1/ABCC1 at the blood-CSF barriers may limit CNS uptake and retention of drugs and toxins in neonates.
  Neuropediatrics 09/2008; 39(4):211-8.
• Article: Siallorrhea in pediatric neurology - the long way from case series to clinical studies.

  Florian Heinen
  Neuropediatrics 09/2008; 39(4):195.
• Article: Pediatric intramedullary teratomas.

  N Işik, N Balak, G Silav, I Elmaci
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  ABSTRACT: Teratomas account for 3% of all childhood tumors, with the majority occurring in the sacrococcygeal region and in the ovary. Intradural spinal teratomas are extremely rare dysembryogenetic tumors. Spinal cord teratomas may be extradural, intradural or intramedullary. Intramedullary ones are the least frequently seen. We have extensively reviewed the literature for intramedullary spinal cord teratomas in children. Although an intramedullary teratoma of the conus medullaris in children is a rare entity, it should be considered in the differential diagnosis of masses involving the conus medullaris.
  Neuropediatrics 09/2008; 39(4):196-9.
• Article: Electroencephalogram and flash visual evoked potentials for detecting periventricular leukomalacia.

  H Kidokoro, A Okumura, T Kato, F Hayakawa, J Natsume, T Kubota, K Watanabe, S Kojima
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  ABSTRACT: The aim of this study was to evaluate the usefulness of a combination of electroencephalogram (EEG) and flash visual evoked potentials (FVEPs) for predicting periventricular leukomalacia (PVL) in the early days of life. Eighty-six of 108 infants admitted to Anjo Kosei Hospital during 1998 through 2000 were enrolled in this study. All subjects underwent EEG and FVEP during the early neonatal period and were followed-up until 18 months of corrected age. EEG was performed once within 72 h after birth, every 1-2 weeks during the first month and every 2-4 weeks during the second month. FVEPs were recorded at least twice, at the first and the second week of life. Of the 86 infants, 13 were diagnosed as having PVL. Among them, EEG abnormalities were observed in 11 infants and FVEP abnormalities in 10. The sensitivity and specificity of EEG were 0.85 and 0.95, respectively. The sensitivity and specificity of FVEPs were 0.77 and 0.96, respectively. All except one (92%) infant with PVL had EEG and/or FVEP abnormalities. The combination of EEG and FVEPs can increase the sensitivity, but reduces the specificity to identify infants with PVL. The combination can makes up for the shortcomings of each method.
  Neuropediatrics 09/2008; 39(4):226-32.
• Article: Return to participation - significant improvement after bilateral pallidal stimulation in rapidly progressive DYT-1 dystonia.

  I Borggraefe, K Boetzel, J Boehmer, S Berweck, W Mueller-Felber, K Mueller, J H Mehrkens, F Heinen
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  ABSTRACT: We report the case of an 8-year-old girl who developed progressive generalized dystonia, rendering her unable to walk and sit within months despite medical therapy with dopamine and anti-cholinergic agents. She was found to have a 9q34.1 GAG-deletion, which is known to cause DYT1-dystonia. DYT-1 dystonia is an autosomal dominant condition with incomplete penetrance that usually starts in childhood. It is known to be refractory to pharmacotherapy. Reports on deep brain stimulation in this condition reveal marked benefits of the treatment in the pediatric and adult populations. The patient underwent bilateral stimulation of the internal globus pallidus 18 months after symptom onset. Postoperatively, her clinical status improved significantly as measured by the Burke-Fahn-Marsden dystonia rating scale and the resolution of a unilateral hip dislocation. Normal participation was regained.
  Neuropediatrics 09/2008; 39(4):239-42.
• Article: Successful treatment of drooling in children with neurological disorders with botulinum toxin A or B.

  B Wilken, B Aslami, H Backes
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  ABSTRACT: Drooling is a common and severe problem in children with neurological disorders and is caused by a disturbed coordination of orofacial and palatolingual muscles. Botulinum toxin could be a successful option to reduce excessive sialorrhea in children with neurological disorders. In 30 children with cerebral palsy or neurodegenerative disorder we injected under ultrasound guidance either botulinum toxin A or botulinum toxin B into the parotid and submandibular glands on both sides. All injections were well tolerated without general anaesthesia. Drooling severity at baseline and reduction of sialorrhea during treatment was measured using a parent's questionnaire and rated using the Teachers Drooling Scale (TDS). Reduction of sialorrhea was achieved two weeks after injection, with a positive effect lasting about three to four months in most children. 83% showed a good response to botulinum toxin after first injection, but only in 50% treatment was continued. We found no significant differences between botulinum toxin A or B. Side effects were observed in 5 children with viscous saliva and in one child a unilateral parotitis was observed. Treatment of drooling with botulinum toxin into the salivary glands is a safe and easy therapeutic option for children with neurological disorders to improve life quality.
  Neuropediatrics 09/2008; 39(4):200-4.
• Article: Notice of retraction.

  T Yamano
  Neuropediatrics 08/2008; 39(4):246.
• Article: Age and sex differences in brain gene expression in neonatal rats.

  D Torbati, B R Totapally, A Raszynski, J Osborne, L van Zyl, S Kalomiris, J Wolfsdorf
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  ABSTRACT: Gene expression in the central nervous system is highly region-specific. We tested the hypothesis that certain developmental biomarkers could be detected in the whole brain or in cortical, subcortical or cerebellar structures. Brain gene expressions of male and female rats at birth, 3 days, and 10 days of age were measured by microarray technique ( approximately 10 K genes; n=9/category). We found 53 significantly up-regulated and 8 down-regulated genes at 10 days of age, relative to birth and 3 days of age. The whole brain, however, showed no significant sex differences in gene expression patterns up to 10 days of age. Ten genes with the highest up-regulation, and 5 down-regulated genes were further confirmed by quantitative real-time PCR (Q-PCR), using the whole brain, cortices, subcortical structures, and cerebellum. The Q-PCR confirmed genes are known to be involved in neuronal differentiation, axonal myelination and growth, neurotransmission and glycolytic pathways. With a few exceptions, the expression levels of Q-PCR confirmed genes were significantly different in the whole brain, compared to other regions. In a separate study, we tested the potential utility of the Q-PCR confirmed genes, as whole brain biomarkers, after a six-hour exposure to hyperoxia (>98% oxygen breathing) in 10 days old rats. This relatively mild oxidative challenge created a 3.5-fold increase in the expression of T-cell receptor beta Variable 8.3b, known to have regulatory function during development. We suggest that genes displaying significant expression in the whole brain, regardless of their origin, could be used to screen normal brain development in neonatal rat models of experimental neurology.
  Neuropediatrics 08/2008; 39(4):219-25.