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- ArticleMuntoni F.Eur J Paediatr Neurol. 2003;7(5):229.
- ArticleYoshikawa H.Eur J Paediatr Neurol. 2003;7(4):191.
- ArticleMahajan V, Gupta P, Tandon O, Aggarwal A.Eur J Paediatr Neurol. 2003;7(2):67-72.Our aim was to assess the effect of intrauterine growth retardation on neurosensory development by evaluating brainstem auditory evoked responses (BAER) in term small for gestational age (SGA) newborn infants born to undernourished mothers. This prospective clinical study included 25 singleton healthy SGA newborn infants born between 38 and 41 weeks to undernourished mothers (weight <45kg, height <145cm, haemoglobin <8g/dl, and serum albumin <2.5g/dl). An equal number of age- and sex-matched appropriate for gestational age newborn infants born to healthy mothers served as controls. Mothers with other risk factors and newborns with complications during delivery or immediate newborn period were excluded. BAER was recorded within first 3 days of life. Interpeak latency (IPL), absolute peak latency (APL) and amplitudes of various waveforms were determined and compared between the groups. No statistically significant differences were observed for the mean interpeak and absolute latencies between term SGA and AGA infants (p>0.05). The absolute peak latency (wave V) and central conduction time (I-V interval) were borderline prolonged in the study group compared with controls (p=0.051 and 0.088 respectively). Using multiple regression analysis, maternal haemoglobin was identified to be the only parameter having a negative correlation with both IPL (waves I-V) (F[1,46]=4.12, p=0.048) and APL (wave V) (F[1,46]=5.80, p=0.02). Maternal undernourishment may have a minor effect on intrauterine development of the auditory brainstem. Maternal haemoglobin is the only factor significantly associated with these changes.
- ArticleTambe KA, Ambekar SV, Bafna PN.Eur J Paediatr Neurol. 2003;7(2):77-80.Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring: focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst,optic atrophy. About 35 such cases have been reported in the literature so far. To our knowledge optic atrophy associated with oculocerebrocutaneous syndrome has not been reported previously. Our patient had only a single seizure and his IQ was normal.
- ArticleIschaemic stroke from dissection of the craniocervical arteries in childhood: report of 12 patients.Chabrier S, Lasjaunias P, Husson B, Landrieu P, Tardieu M.Eur J Paediatr Neurol. 2003;7(1):39-42.Dissection of craniocervical arteries is the most common non-atherosclerotic cause of stroke in young adults. During childhood, it is described primarily as isolated reports. Among 59 patients with arterial ischaemic stroke seen consecutively in the same institution, 12 had a dissection of a cervical or cerebral artery. The diagnosis was established through imaging features. The dissection involved the cervical arteries in five patients and intracranial arteries in seven. A cervical or facial trauma preceded the onset of cerebral ischaemic symptoms in four patients with extracranial dissection by a few minutes to 10 days. For another six patients, the stroke occurred during physical exertion. The neurological deficit was preceded or associated with an intense headache or neck pain in nine patients. Initial treatment consisted of anticoagulation therapy in two patients with extracranial dissection, and aspirin in nine. There was only one recurrence of stroke after a mean follow-up of 3 years and 6 months. Four patients had persistent disabling neurological deficit. Dissection of cervical or cerebral arteries appears to be a common cause of stroke in childhood.
- ArticleFazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G.Eur J Paediatr Neurol. 2003;7(1):13-22.Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.
- ArticleMoog U, Smeets EE, van Roozendaal KE, Schoenmakers S, Herbergs J, Schoonbrood-Lenssen AM, Schrander-Stumpel CT.Eur J Paediatr Neurol. 2003;7(1):5-12.Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.
- ArticleDyduch I, European Paediatric Neurology Society.Eur J Paediatr Neurol. 2003;7(4):199-209.
- ArticleEllison DW, Clifford SC, Gajjar A, Gilbertson RJ.Eur J Paediatr Neurol. 2003;7(2):53-66.
- ArticleJungbluth H, Sewry CA, Muntoni F.Eur J Paediatr Neurol. 2003;7(1):23-30.The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular myopathy. Recent years have seen genetic resolution of a proportion of these conditions. The following review summarizes recent genetic findings in the congenital myopathies and outlines implications for our understanding of their pathophysiological basis and their relation to other neuromuscular disorders.
- ArticleGordon N.Eur J Paediatr Neurol. 2003;7(6):395-9.Alexander disease is a rare disorder with limited understanding of its cause, although it does seem to be a disorder of astrocytes rather than a leukodystrophy. It can be divided into three groups: infantile, juvenile, and adult. The infantile type shows enlargement of the head, retarded development and evidence of a severe neurological disorder. The juvenile sufferers are more likely to exhibit bulbar signs, and may not be significantly retarded. Among adults the condition can fluctuate, and so mimic multiple sclerosis. The differential diagnosis in these three groups is discussed, especially the unusual ways in which they can present. The definitive diagnosis may depend on demonstrating Rosenthal fibres in a brain biopsy, or at autopsy, but other tests can be suggestive. The cerebrospinal fluid can show an elevation of B-crystallin and heat shock protein, and the GFAP gene is considered a reliable marker. The EEG and magnetic imaging findings are non-specific. Pathological studies of the brain can be characteristic with demyelination, especially in the frontal lobes, and Rosenthal fibres concentrated in the subpial and subependymal areas. It is possible that these fibres cause a dysfunction of the astrocytes. The genetic investigations are reviewed, and possible causes are discussed. These remain theoretical, but it has been suggested that the disorder is a response to stress from some unknown stimulus. Rosenthal fibres seem to be the result of the condition, although they may be related to the aetiology. There is no specific treatment.
- ArticleAnlar B, Yalaz K, Saatci I.Eur J Paediatr Neurol. 2003;7(2):81-4.Magnetic resonance imaging in subacute sclerosing panencephalitis (SSPE) usually demonstrates changes in white matter signal intensity, cerebral atrophy, or, in early disease, normal findings. We observed bilateral cystic temporal lobe lesions in a patient with early stage SSPE. Other degenerative conditions associated with such lesions were ruled out based on a normal head circumference, the absence of white matter changes, and normal cerebrospinal fluid lactate level. This observation suggests the inclusion of SSPE in the differential diagnosis of cystic white matter lesions.
- ArticleJanes SE, Whitehouse WP.Eur J Paediatr Neurol. 2003;7(6):413-5.A case of brachial neuritis after infection with Epstein-Barr virus in a 15-year-old girl is presented. A review of the literature contrasts the presenting features in children and adults. Diagnostic tests, treatment and prognosis are discussed.
- ArticleJohnston MV.Eur J Paediatr Neurol. 2003;7(3):105-13.Plasticity includes the brain's capacity to be shaped or moulded by experience, the capacity to learn and remember, and the ability to reorganize and recover after injury. Mechanisms for plasticity include activity-dependent refinement of neuronal connections and synaptic plasticity as a substrate for learning and memory. The molecular mechanisms for these processes utilize signalling cascades that relay messages from synaptic receptors to the nucleus and the cytoskeleton to control the structure of axons and dendrites. Several paediatric neurological disorders such as neurofibromatosis-1, Fragile X syndrome, Rett syndrome, and other syndromic and non-specific forms of mental retardation involve lesions in these signalling pathways. Acquired disorders such as hypoxic-ischaemic encephalopathy, lead poisoning and epilepsy also involve signalling pathways including excitatory glutamate receptors. Information about these 'plasticity pathways' is useful for understanding their pathophysiology and potential therapy.
- ArticleBrown H, Willshaw HE.Eur J Paediatr Neurol. 2003;7(4):173-5.A 10-month-old boy with vertical ocular motor apraxia (OMA) is presented. An optokinetic projector confirmed absence of downward saccades. No case of idiopathic vertical OMA has previously been described. A review of the MRI, initially reported as normal, showed pathology in areas known to be involved with vertical eye movements: the cerebellum and thalamus.
- ArticleWilliams AN, Alton HM, Sunderland R.Eur J Paediatr Neurol. 2003;7(4):183-5.Thomas Willis (1621-1675) was the founder of modern clinical neuroscience. His habit of taking detailed histories with acute clinical observation often accompanied by post mortem studies has left a body of work which still provokes thought and debate. While we were considering a case of pituitary tumour described by Willis, a similar case presented coincidentally at our hospital. The two cases are compared and contrasted.
- ArticleSarnat HB.Eur J Paediatr Neurol. 2003;7(1):43-5.
- ArticleEfron D, South M, Volpe JJ, Inder T.Eur J Paediatr Neurol. 2003;7(4):167-71.The adverse effect of hyperglycemia on neurological outcome following cerebral ischemia has been established in both experimental and adult human studies. However, there is a paucity of data to assess this risk in the human infant. This case is the first to describe severe and prolonged iatrogenic hyperglycemia in association with ischemia in an infant who sustained a major cerebral lesion. The topography of the predominant cerebral injury, i.e., bilateral parieto-occipital cortex and subcortical white matter, shown by magnetic resonance imaging was similar to that documented in the hypoglycemic infant, suggesting a similarity in regional cerebral vulnerability to altered glucose metabolism. This case extends recognition of the risk of severe hyperglycemia in association with cerebral ischemia to the newborn and suggests also that the posterior cerebral predilection for injury is similar in both hypoglycemia and hyperglycemia.
- ArticleMeyer-Heim AD, Klein A, Boltshauser E.Eur J Paediatr Neurol. 2003;7(6):407-12.Only a few series of patients with cervical myelomenigocele (cMMC) and cervical meningocele (cMC) have been published. Interventions as well as the neurologic, orthopaedic, urologic and intellectual outcomes were analysed in this retrospective description of five patients with cMMC and cMC diagnosed in the period 1984-1999. Four patients suffered from cMMC, one from cMC. The average duration of follow-up was 9.5 years. None of the patients had periconceptual prevention with folic acid. Three had a Chiari II malformation and two a hydrocephalus. Tethering of the cervical cord was demonstrated in three patients at follow-up. All children achieved an independent ambulatory function and urinary continence. Incomplete sensorimotor hemiparesis was present in two children, and a mild unilateral arm paresis in one. Two of five patients had age appropriate cognitive functions. Three patients with mild mental retardation or behavioural problems had to be placed in special classes. The outcome of patients with cMMC is favourable regarding to the neurologic, orthopaedic and urologic problems compared with lower neural tube defects. However, the burden of repeated examinations and therapies is considerable and induces high costs, therefore prevention with periconceptual folic acid is a crucial issue also in cMMC. Spinal cord dysfunction has to be considered in growing children due to persistent tethering or re-tethering, therefore regular neurologic and urodynamic investigations are of particular importance.
- ArticleOhno K, Engel AG.Eur J Paediatr Neurol. 2003;7(5):227-8.