bluuebunny/crossref_metadata_2025 huggingface dataset:
Sturge-Weber Syndrome: Age of Onset of Seizures and Glaucoma and the Prognosis for Affected Children
Authors: Sujansky Eva , Conradi Susan
Published: December 2008

Data were obtained on 171 individuals with Sturge-Weber syndrome via questionnaire and medical records. The age of the study group ranged from 2 months to 59 years; the median was 8 years. In addition to the facial location of port-wine stains in the areas of the trigeminal dermatomes present in 170 patients, 45% also had extracranial port-wine stains over the torso and/or extremities, and 17% had other vascular or pigmentary lesions. Seizures were present in 80% of all patients (87% of those with bilateral and 71% of those with unilateral port-wine stains); in all but one case, seizures were associated with port-wine stains in V 1 alone or V1 and V2 trigeminal dermatomes location. The age of onset of seizures ranged from birth to 23 years; 75% had onset of seizures before 1 year of age; these children had an 83% incidence of developmental and academic problems. Fifty-eight percent showed early developmental delay and required special education classes. The rate of retardation showed a decreasing tendency with increasing age of onset of seizures; of the children without seizures, only 6% had developmental delay and 11% required special education classes. Glaucoma was present in 48% of patients (67% unilateral and 33% bilateral). Of all patients with glaucoma, 92% had port-wine stains in both V1 and V2 dermatomes and 8% only in V1. The laterality of glaucoma did not correspond to the trigeminal distribution of the port-wine stains in all instances. Glaucoma was diagnosed during the 1st year of life in 61% and by 5 years in 72%; one patient did not have onset of symptoms until 38 years. The results of our data can serve as a guide for estimating relative risk figures for seizures, glaucoma, and mental retardation in children with Sturge-Weber syndrome. (J Child Neurol 1995;10:49-58).
Topical Review: Parasitic Infections of the Central Nervous System in Children. Part II: Disseminated Infections
Authors: Lowichik Amy , Ruff Andrea J.
Published: December 2008

In the second segment of this three-part review of parasitic infections of the central nervous system in children, we consider parasitic infections which typically involve various tissues and organs in addition to the brain and spinal cord. Parasites capable of dissemination in immunocompetent hosts are discussed first, and, as in Part I, organisms are grouped according to their predominant geographic location. This is followed by a discussion of the unique aspects of toxoplasmosis, strongyloidiasis and infection with microsporidia in immunocompromised patients, with an emphasis on the central nervous system. (J Child Neurol 1995;10:77-87).
Accuracy of Neurologic Examination and History in Detecting Evidence of MRI-Diagnosed Cerebral Infarctions in Children With Sickle Cell Hemoglobinopathy
Authors: Glauser Tracy A. , Siegel Marilyn J. , Lee B.C.P. , DeBaun Michael R.
Published: December 2008

We determined the accuracy of neurologic examination and the history of a previous neurologic event in detecting clinical evidence of a magnetic resonance imaging (MRI)-diagnosed cerebral infarction in 30 children with sickle cell hemoglobinopathy. Each patient had an MRI of the brain, neurologic examination, chart review, and psychometric evaluation. Seventeen children (57%) had MRI evidence of cerebral infarction based on demonstration of parenchymal abnormalities in a vascular distribution. Among the 17 children with MRI evidence of cerebral infarction, only 12 (71%) had an abnormal neurologic examination, and 11 (65%) had a history of a prior neurologic event. In contrast, among the 13 children with normal MRIs, 12 (92%) had normal neurologic examinations, and no child had a previous history of a neurologic event. Multiple, bilateral, heterogeneous cerebral infarctions frequently occur without overt neurologic signs or symptoms in children with sickle cell hemoglobinopathy. Previous studies that relied on a focal neurologic examination or a history of a neurologic event to identify cerebral infarctions in patients with sickle cell hemoglobinopathy most likely underrepresented the true frequency of cerebral infarctions in this population. Future prospective studies of cerebral infarctions in children with sickle cell hemoglobinopathy should include MRIs for identification and classification, rather than neurologic examination or clinical history alone. (J Child Neurol 1995;10:88-92).
A Persistent Biochemical Marker for Partially Treated Meningitis/Ventriculitis
Authors: Katnik Richard
Published: December 2008

Regulation of circulating iron is important in bacterial, yeast, and fungal infections. In the present study, cerebrospinal fluid levels of ferritin, an iron-binding protein, were determined in controls and in patients with central nervous system pyogenic and viral infections. Among 441 controls, cerebrospinal fluid ferritin level was higher than 18 ng/mL in two relapsed patients with central nervous system leukemia, 12 with bacteremia or pneumonia, and one with hemorrhagic herpes simplex encephalitis. Cerebrospinal fluid ferritin levels were more than 18 ng/mL in 13 of 63 patients diagnosed with nonhemorrhagic aseptic meningitis/ventriculitis, when defined solely by negative cerebrospinal fluid culture. Conversely, cerebrospinal fluid ferritin exceeded 18 ng/mL in culture-proven meningitis (46 of 47 cases) and ventriculitis (five of five cases). Cases of indolent cryptococcus and tuberculous meningitis showed modest increases despite traditional cerebrospinal fluid markers, at times, being normal. Cerebrospinal fluid ferritin levels did not correlate with cerebrospinal fluid neutrophil count, cerebrospinal fluid protein concentration, serum ferritin level, or patient age. In 16 of 19 cases monitored sequentially during ongoing antibiotic treatment, levels remained over 18 ng/mL (average, 15.0 days; range, 1 to 54 days). This observation suggests that obtaining cerebrospinal fluid ferritin levels is helpful whenever traditional laboratory benchmarks normalize, as during acute or chronic antibiotic therapy, or create confusion with positive cultures stemming from sample contamination. (J Child Neurol 1995;10:93-99).
Delayed Myelination in Infants and Young Children: Radiographic and Clinical Correlates
Authors: Squires Liza A. , Krishnamoorthy Kalpathy S. , Natowicz Marvin R.
Published: December 2008

Magnetic resonance imaging (MRI) is the best method for assessing myelination in infants and young children. Although delayed myelination is a common neuroradiologic diagnosis, there are few or no data regarding the reliability of this diagnosis or radiographic and clinical findings in cohorts of such patients. We evaluated the cranial MRI scans of 109 patients from age 0 to 36 months, without knowledge of any patient's age or previous clinical or radiologic diagnosis. For each cranial MRI, seven neuroradiologic landmarks were evaluated and established criteria used to assess the state of myelination. We found that in 12 of 109 patients, delayed myelination was misdiagnosed, whereas the diagnosis of delayed myelination was missed in four other patients. Lack of familiarity with the myelination milestones of infancy was the most common reason for a misdiagnosis of delayed myelination. Failure to recognize delayed myelination was due to a failure to appreciate the forceps minor as a landmark. Overall, the diagnosis of delayed myelination was inaccurately applied or missed in 15% of the patients in this series. Of the 14 patients identified as having delayed myelination, 10 had other central nervous system structural abnormalities seen on MRI, most commonly cortical atrophy. Developmental delay was the most common clinical correlate of delayed myelination and was documented in 12 of the 14 patients. To increase the reliability of neuroradiologic assessments in young children, we propose that central nervous system myelin maturation be evaluated and expressed as a myelination age equivalent, analogous to the assessment of pediatric bone age using conventional radiographs. Further, prospective studies of infants and young children with delayed myelination are needed to learn the full clinical spectrum of this common neuroradiologic diagnosis. (J Child Neurol 1995;10:100-104).
Fryns Syndrome: Neurologic Findings in a Survivor
Authors: Riela Anthony R. , Tal Thomas I. , Gonzalez Antonio R. , Ifft Robin D.
Published: December 2008

Fryns syndrome, a multiple congenital anomaly syndrome associated with diaphragmatic defects, craniofacial dysmorphism, distal digital hypoplasia, and neurologic abnormalities, was first described in 1979. This autosomal recessive disorder is usually associated with stillbirth or death immediately after birth. Detailed neurologic findings in the third survivor beyond the neonatal period are reported, and neurologic abnormalities in other cases are reviewed. Initially, hypotonia, areflexia, and weakness were seen. Myoclonus developed immediately after birth and was well controlled with high-dose valproate. Electroencephalography revealed slowing and irregular paroxysmal discharges with spikes and sharp waves that disappeared with time and treatment. Magnetic resonance imaging demonstrated partial agenesis of the corpus callosum, a Dandy-Walker malformation, and progressive cerebral and brainstem atrophy. This syndrome should be considered in patients with unusual facial features and digital abnormalities associated with frequent early myoclonus. (J Child Neurol 1995; 10: 110- 113).
Ataxia-Oculomotor Apraxia Syndrome
Authors: Gascon Generoso G. , Abdo Nivan , Sigut David , Hemidan Amal , Hannan Mohammed A.
Published: December 2008

Ataxia-oculomotor apraxia is a distinct entity first comprehensively described in 1988. The features include early childhood onset of ataxia and oculomotor apraxia, mimicking ataxia telangiectasia but without the extraneurologic findings of ataxia telangiectasia. We add to the clinical description of the ataxia-oculomotor apraxia syndrome by reporting eight patients, ages 2 to 15 years, from four families, suggesting autosomal recessive inheritance, with the longest follow-up over 6 years. After initial gait deterioration, all had a nonprogressive course. We have postulated that ataxia-oculomotor apraxia should be established as a separate disease from ataxia telangiectasia or its variants not only by clinical history, examination findings, and course, but primarily by the biologic markers of normal chromosome breakage and radiation sensitivity studies. We found no increased chromosome breakage in the four patients studied and intermediate sensitivity to chronic ionizing radiation of cultured skin fibroblasts on the three patients studied. Family studies revealed an intermediate radiosensitivity from two patients, their asymptomatic parents, and a sister. The lack of chromosome breakage strongly separates ataxia-oculomotor apraxia from ataxia telangiectasia. The radiation sensitivity studies are compatible with two possibilities: (1) symptomatic ataxia telangiectasia heterozygotes, but this would be highly unusual because the degree of clinical involvement in the ataxia-oculomotor apraxia patients is not mild, as would be expected if they were heterozygotes and (2) a separable disease entity, which is the interpretation we favor. (J Child Neurol 1995;10:118-122).
Brain Weight and Sudden Infant Death Syndrome
Authors: Falck Geir , Rajs Jovan
Published: December 2008

Increased brain weights have been reported in the literature to occur among infants who have died from sudden infant death syndrome, suggesting that cerebral edema might play a role in the cause of death among these children. We have compared brain weights from children between the ages of 1 week and 1 year, autopsied between 1980 and 1992. One group consisted of 125 victims of sudden infant death syndrome and the other of 38 children who had died with a diagnosis other than the sudden infant death syndrome. Brain weights from both groups exceeded the 50th percentile in previously published reference material. We were unable to show any significant differences between the groups in either the ratio between observed and expected brain weights or the ratio between brain weight and body weight. We conclude that there is no evidence for the notion that victims of sudden infant death syndrome have an increased brain weight. Other authors (in previous studies) may have overlooked the low overall weight at gestational age of prematurely born children while collecting data for reference levels. A revision of the figures seems to be necessary. (J Child Neurol 1995;10:123-126).
Medical Treatment of West Syndrome in Japan
Authors: Watanabe Kazuyoshi
Published: December 2008

Although corticotropin (ACTH) is still the most effective drug for the treatment of West syndrome, a variety of other treatment modalities have been tried because of corticotropin's frequent and sometimes serious side effects. A recent survey on the treatment of this devastating disorder by Japanese child neurologists disclosed different therapeutic approaches from those taken by American or European child neurologists. Most Japanese child neurologists use vitamin B6 as the first agent and corticotropin as the third or second drug. Moreover, the dosage of corticotropin used by them is considerably smaller. Therefore, the current status of medical treatment of West syndrome is reviewed, especially comparing Japan with other countries. (J Child Neurol 1995;10:143-147).
The Childhood Muscular Dystrophies: Diseases Sharing a Common Pathogenesis of Membrane Instability
Authors: Mendell Jerry R. , Sahenk Zarife , Prior Thomas W.
Published: December 2008

New observations demonstrate that several childhood forms of muscular dystrophy share a common pathogenesis. In muscle, dystrophin occurs as part of a membrane complex (dystrophin-glycoprotein) linking the cytoskeleton to the basal lamina. In Duchenne muscular dystrophy, dystrophin deficiency disrupts the linkage of the integral glycoproteins of the sarcolemma and leads to muscle fiber necrosis. In severe childhood autosomal recessive muscular dystrophy, a selective deficiency of adhalin (50-kd glycoprotein) also causes dysfunction of the dystrophin-glycoprotein complex. Most recently, a form of congenital muscular dystrophy demonstrates deficiency of laminin M (merosin) further demonstrating that sarcolemmal instability results from defects in structural proteins of the basal lamina. Animal models have been identified also demonstrating defects in specific proteins linking the subsarcolemmal cytoskeleton to the extracellular matrix. The mdx mouse has a defect in the gene encoding dystrophin. The cardiomyopathic hamster shows a specific deficiency of adhalin in skeletal muscle. The dy/dy mouse has been found deficient in merosin. These animal models will help researchers to understand their human counterparts and provide a system for testing therapeutic strategies. (J Child Neurol 1995;10:150-159).
Persistent Respiratory Failure Due to Low Cervical Cord Infarction in Newborn Babies
Authors: de León Guillermo A. , Radkowski Mary Ann , Crawford Susan E. , Swisher Charles N. , Uzoaru Ikechukwu , de León William
Published: December 2008

Perinatal infarction of the spinal cord is described in two premature babies who survived for several months. In both cases, there was bilateral, multisegmental infarction at the lower cervicothoracic arterial zone (inferior cervical sector), predominantly within the territory of the anterior spinal artery. Clinically, both infants had acute respiratory failure, diaphragmatic respiration, intercostal paralysis, bell-shaped deformity of the thorax, and bilateral arm paresis. Intubation and ventilator support were required for weeks. Eventual extubation was followed by recurrent respiratory failure, atelectasis, and pneumonia. At the level of the infarction, multiple, scattered scars were found in central, perimedullary, and intramedullary arteries, but not in their parent vessels. The etiology of the angiopathy was not determined. These cases demonstrate that discrete arterial infarction of the cord can occur in premature babies, and that such a lesion should be considered in the differential diagnosis of neonatal respiratory failure. (J Child Neurol 1995;10:200-204).
Clobazam for Intractable Pediatric Epilepsy
Authors: Sheth Raj D. , Ronen Gabriel M. , Goulden Keith J. , Penney Sharon , Bodensteiner John B.
Published: December 2008

We report our experience with add-on clobazam therapy over a 5-year period in 63 children with refractory epilepsy. The mean duration of epilepsy was 6.7 years. Children were followed for 15 to 64 months. Of 63 children, 57 were developmentally delayed, and 54 had a symptomatic/cryptogenic epilepsy. Forty-one percent became either seizure free or had a greater than 90% reduction in seizure frequency. Seizure frequency was reduced 50% to 90% in another 24%. The average daily dose of clobazam was 0.8 mg/kg. Thirty-five percent had the medication withdrawn for persistent or unacceptable side effects or the development of tolerance (seven patients). Side effects included severe aggressive outbursts, hyperactivity, insomnia, and depression with suicidal ideation. Clobazam is a useful add-on medication for 65% of children with epilepsy. Clinical utility may be limited by behavioral side effects in some patients. (J Child Neurol 1995;10:205-208).
Topical Review: The Diagnosis of Congenital Infections: Contemporary Strategies
Authors: Souza Inara E. , Bale James F.
Published: December 2008

Congenital infections remain an important source of neurologic, ophthalmologic, and audiologic disability for thousands of children throughout the world. This review summarizes the clinical features and describes contemporary approaches to the microbiologic diagnosis of congenital infections. In particular, this review emphasizes the important roles that molecular methods, especially the polymerase chain reaction, have in detecting the many infectious agents capable of damaging the developing nervous system. (J Child Neurol 1995; 10:271-282).
Anomic Aphasia in Childhood
Authors: Hynd George W. , Leathem Janet , Semrud-Clikeman Margaret , Hern Kelly L. , Wenner Mathew
Published: December 2008

Documented cases of anomic aphasia in childhood are rare, due to their low prevalence and relatively subtle clinical manifestations and because of probable referral bias. Such cases are important, however, because they may shed light on the nature of lesions that produce anomia in children and because they may contribute to our understanding of brain-behavior relations in children. This case involves a 10-year-old girl who experienced a left temporoparietal hematoma. Recovery over an 8-month period was good, with near normal verbal-expressive (Verbal IQ = 86) and normal perceptual-motor abilities (Performance IQ = 100). Reading, spelling, and repetition were preserved. Spontaneous speech was good, although initially circumlocutory and marked by obvious word-finding difficulty. Consistent with reports involving adults, there was significant disturbance in naming characterized by frequent literal and semantic paraphasias. Although she had significant difficulty on confrontational naming, she could accurately spell and read the name of the objects presented to her. This case is discussed relative to localization of lesions producing anomic aphasia and regarding the course of recovery in childhood. (J Child Neurol 1995;10:289-293).
Right-Hemisphere Dysfunction in Asperger's Syndrome
Authors: McKelvey J. Roger , Lambert Raymond , Mottron Laurent , Shevell Michael I.
Published: December 2008

Asperger's syndrome has many clinical features in common with acquired right-hemisphere dysfunction and has been postulated to result from a developmental abnormality of the right hemisphere. However, right-hemisphere abnormality has not previously been documented on neuroanatomic or functional imaging in patients with Asperger's syndrome. We report three patients with Asperger's syndrome found to have abnormal right-hemisphere function on single photon emission computed tomographic (SPECT) imaging. The subjects were two males and one female, ranging from 12 to 16 years of age. All were diagnosed on the basis of the presence of the complete constellation of clinical features previously outlined. All patients were investigated with computed tomographic (CT) scanning, magnetic resonance imaging (MRI), and SPECT scanning. In one subject, CT and MRI revealed enlargement of the right lateral ventricle, reflecting a mild degree of right hemispheric atrophy. CT and MRI studies on the other two subjects were normal. SPECT scanning demonstrated right hemispheric abnormalities in each subject: right temporal hypoperfusion with a central area of increased perfusion along with frontal polar hyperperfusion in one; diffusely decreased right hemispheric uptake in the second; and decreased frontal and occipital uptake in the third. Cerebellar abnormalities were also present: a smaller right hemisphere with increased uptake in the first; decreased uptake in the vermis and right hemisphere in the second; and decreased vermal uptake in the third. These findings support the hypothesis that the neurobiologic basis of Asperger's syndrome is a developmental abnormality of the right cerebral hemisphere. (J Child Neurol 1995; 10:310-314).
Febrile Seizures: Rate and Risk Factors of Recurrence
Authors: Al-Eissa Youssef A.
Published: December 2008

The rate of recurrence of febrile seizures and the factors predictive of a recurrence were prospectively examined in a cohort of 98 Saudi children who presented consecutively with their first febrile seizure at the pediatric emergency department of the King Khalid University Hospital, Riyadh, Saudi Arabia. Children with prior afebrile seizures or evidence of a neurodevelopmental deficit were excluded. The median age was 15 months (range, 4 to 60 months). Of the 98 children, 72 had simple and 26 had complex initial febrile seizures. In a follow-up of 3 to 6 years (mean, 49 months), 26% of the 98 untreated children had at least one recurrence and only 8% had more than three recurrent febrile seizures; 30% of first recurrences took place within 3 months, 60% within 6 months, 72% within 12 months, and 96% within 24 months of the onset. Four major risk factors for recurrent febrile seizures were identified: early age at onset (< 12 months), first-degree consanguinity of parents, epilepsy in a first-degree relative, and complex initial febrile seizure. Gender, family history of febrile seizures, and degree of fever were not related to recurrence. (J Child Neurol 1995;10:315-319).
Quantitative EEG in Young Diabetics
Authors: Hauser E. , Strohmayer C. , Seidl R. , Birnbacher R. , Lischka A. , Schober Edith
Published: December 2008

The aim of this study was to investigate the influence of metabolic control on quantitative electroencephalographic (EEG) abnormalities in young diabetic patients. We compared quantitative EEGs of 44 insulin-dependent diabetic patients with age-matched controls. Furthermore, differences in EEG variables of diabetic patients and controls were correlated with the age of onset and duration of diabetes, hemoglobin A1c concentrations, and episodes with severe hypoglycemia. We found a correlation between high values of hemoglobin A1c and decreased relative power of the alpha band. Patients with previous ketoacidotic episodes had increased relative power of the delta/theta band and decreased relative power of the alpha band. Patients with hemoglobin A1c values less than 8.5% exhibited slowing of background activity compared with normal controls. We conclude that metabolic control influences the EEG and that improvement of glucose metabolism is an important factor in avoiding EEG abnormalities in young diabetic patients. (J Child Neurol 1995; 10:330-334).
Topical Review: Neuromuscular Complications of Sepsis in Children
Authors: Sheth Raj D. , Bolton Charles F.
Published: December 2008

Sepsis occurs frequently in the pediatric intensive care unit and is a significant cause of morbidity and mortality. Multiple organ systems are adversely affected by sepsis. Approximately 70% of adult patients with sepsis have peripheral nervous system dysfunction on electrophysiologic studies, of whom 30% are symptomatic. Neuromuscular dysfunction in children with sepsis is increasingly reported; however, the incidence remains undefined. Flaccid quadriplegia with the inability to wean from ventilatory support despite full cardiopulmonary recovery is the typical presentation. However, lesser degrees of weakness may be demonstrated with careful evaluation. Electrophysiologic studies often demonstrate the presence of axonal polyneuropathies, abnormalities of neuromuscular transmission, or acute myopathies. Identifiable neuromuscular syndromes in children with sepsis include critical illness polyneuropathy, pure motor polyneuropathy, thick-filament myopathy, and necrotizing myopathy. The common underlying pathogenic process in these syndromes appears to be sepsis, which may be accentuated by the administration of steroids or neuromuscular blocking agents. Recovery in strength usually occurs over a period of weeks to months. (J Child Neurol 1995;10:346-352).
Sudden Unexpected Death in Patients With Dandy-Walker Malformation
Authors: Elterman Roy D. , Bodensteiner John B. , Barnard Jeffrey J.
Published: December 2008

An uncommon but well-recognized occurrence in patients with Dandy-Walker malformation is sudden unexpected death. The mechanism of demise has not been established. We report three patients with Dandy-Walker malformation that experienced sudden unexpected death without uncal or tonsillar herniation, the mechanism usually proposed for demise in such situations. Our findings suggest the possibility of vascular compromise as the cause of the sudden unexpected death in these patients. Early and effective relief of the pressure in the posterior fossa may prevent the occurrence of this catastrophic complication. (J Child Neurol 1995;10:382-384).
Models of Delayed Recovery
Authors: Leviton Alan , Bellinger David , Pagano Marcello , Rabinowitz Michael
Published: December 2008

After a biologic insult has impaired function of the developing central nervous system, recovery may not become apparent for years. Probability models adopted from the carcinogenesis, developmental neurobiology, learning decay, and stochastic process literatures are presented so that assumptions about apparent delays in the recovery process can be tested with data from longitudinal studies after a temporally circumscribed adverse event/exposure. This process of evaluating multiple models is exemplified with one data set. Nonlinear models of recovery are important because some children with early deficits first show improvement months to years later. (J Child Neurol 1995; 10: 385-39 1).
Topical Review: The Neuronal Ceroid-Lipofuscinoses
Authors: Goebel Hans H.
Published: December 2008

The neuronal ceroid-lipofuscinoses, a group of progressive neurodegenerative diseases in children and in adults, have now been recognized for some 90 years, and the childhood forms represent one of the largest groups of progressive neurodegenerative diseases in children. Apart from a core group of major clinical forms—the infantile, the late-infantile, the juvenile, and the adult forms—numerous atypical patients afflicted with neuronal ceroid-lipofuscinosis have now been identified, constituting 10% to 20% of all patients with neuronal ceroid-lipofuscinosis. These "atypical" patients have, over the past 10 years, prompted the suggestion of 15 atypical variants or minor syndromes, many of them displaying the lipopigments of classic curvilinear and fingerprint ultrastructure, but others displaying granular osmiophilic deposits. The former lipopigments contain the subunit C of the mitochondrial adenosine triphosphate synthase, but lipopigments of the granular osmiophilic deposits, including the classic infantile type Santavuori-Haltia, apparently do not, the latter type exhibiting sphingolipid activator proteins. The nosologic significance of both the subunit C of the adenosine triphosphate synthase and the sphingolipid activator proteins, although they make up a considerable amount of the crude auto-fluorescent lipopigments in neuronal ceroid-lipofuscinosis, is still unclear. In spite of numerous pathogenetic principles invoked, such as a defect in lipid peroxidation, abnormalities of dolichols and dolichol phosphates, and defects in protease inhibitors, precise pathogenesis and etiology of the neuronal ceroid-lipofuscinoses remain elusive. Recent promising molecular genetic studies have, however, revealed the gene for infantile neuronal ceroid-lipofuscinosis, CLN1, on chromosome 1p32; the gene for juvenile neuronal ceroid-lipofuscinosis, CLN3, on chromosome 16p12.1-11.2; and the gene for a Finnish variant of late-infantile neuronal ceroid-lipofuscinosis, CLN5, on chromosome 13q31-32. The genes for classic late-infantile neuronal ceroid-lipofuscinosis, CLN2, and for adult neuronal ceroid-lipofuscinosis, CLN4, have not been located, the former having been excluded from chromosomes 1 and 16. However, the gene products of the normal allelic forms have not yet been identified. A considerable number of sporadic animal models is now available, largely equivalent to the juvenile and infantile forms of neuronal ceroid-lipofuscinosis, with those of the English setter and the South Hampshire sheep evaluated best. Recently, several mouse models have been added to this list of autosomal-recessive models, again the one most thoroughly studied being the motor-neuron disease mouse. Progress has also been made in the prenatal diagnosis of neuronal ceroid-lipofuscinosis: now the infantile, late-infantile, and juvenile forms can be recognized prenatally by a combined genetic and electron microscopic approach. (J Child Neurol 1995;10:424-437).
MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis
Authors: Vanhanen Sanna-Leena , Raininko Raili , Autti Taina , Santavuori Pirkko
Published: December 2008

The purpose of this study was to demonstrate the course of infantile neuronal ceroid-lipofuscinosis with brain magnetic resonance imaging (MRI) in children aged 3 months to 11 years. Twenty-one patients and 46 neurologically normal controls of the same age were examined. The images were evaluated visually; then signal intensities were measured and related to those of references. MRI abnormalities were detectable before clinical symptoms. The radiologic picture of the brain varied with the duration of the disease. Pathognomonic MRI findings in the early stage of the disease were generalized cerebral atrophy, strong thalamic hypointensity to the white matter and to the basal ganglia, and thin periventricular high-signal rims from 13 months onward on T2-weighted images. In patients over 4 years old, cerebral atrophy was extreme, and the signal intensity of the entire white matter was higher than that of the gray matter, which is the reverse of normal. This study showed that the abnormalities seen on MRI progress rapidly during the first 4 years of life, then stabilize, in conformity with the clinical and histopathologic pictures of infantile neuronal ceroid-lipofuscinosis. (J Child Neurol 1995; 10:444-450).
Neurophysiologic Assessment of Urinary Dysfunction in Children With Thoracic Syringomyelia
Authors: Kothari Milind J. , Kelly Mary , Darbey Mary , Bauer Stuart , Scott R. Michael
Published: December 2008

Isolated syringomyelia of the thoracic portion of the spinal cord is relatively uncommon. In children, signs and symptoms may involve only the urinary system. Five children who presented for evaluation of urinary tract dysfunction were found to have syringomyelia of the thoracic cord not associated with any other central nervous system abnormality on radiographic imaging. Each child underwent a complete neurologic examination and a complete electrophysiologic/urodynamic evaluation. One patient underwent surgical drainage of the syrinx due to progression of neurologic deficit, with slight improvement; three patients were treated pharmacologically to control the urinary dysfunction. (J Child Neurol 1995;10:451-454).
Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI
Authors: Ippel Elly F. , Wittebol-Post Dienke , Jennekens Frans G.I. , Bijlsma Jan B.
Published: December 2008

Charcot-Marie-Tooth disease comprises a heterogeneous group of neurologic disorders that share peripheral motor and sensory neuropathy. A classification of these disorders was proposed in 1975, defining seven types of hereditary motor and sensory neuropathy. Clinical features of hereditary motor and sensory neuropathy type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to blindness due to optic atrophy. Hereditary motor and sensory neuropathy type VI was first reported in 1879 by Vizioli, who described a kinship in which a father and two sons presented with peroneal muscular atrophy in association with optic atrophy. Since then, at least nine similar cases have been reported: three sporadic cases, two pairs of siblings who were offspring of consanguineous parents, and one pair of siblings who were offspring of unrelated parents, suggesting autosomal recessive inheritance. Vertical transmission has been reported only by Vizioli. We present a father and two offspring (one boy and one girl) with the above-mentioned characteristic features of hereditary motor and sensory neuropathy type VI. Vizioli's kinship and the present family show that hereditary motor and sensory neuropathy type VI is a genetically heterogeneous disorder, with either an autosomal recessive or autosomal dominant pattern of inheritance. (J Child Neurol 1995;10:459-463).
Differential Involvement of the Brain in Neonatal Asphyxia: A Pathogenic Explanation
Authors: Sheth Raj D. , Bodensteiner John B. , Riggs Jack E. , Schochet Sydney S.
Published: December 2008

Multiple cystic lesions in brain parenchyma supplied by the anterior cerebral circulation is a recognized pattern of cerebral injury associated with hypoxic-ischemic encephalopathy in the term infant. This report presents a series of seven infants (gestational age, 39.3 ± 2.8 weeks; range, 36 to 44 weeks) who developed multicystic encephalomalacia in the distribution of the anterior cerebral circulation after severe neonatal asphyxia. Cerebral imaging and pathologic studies demonstrate relative preservation of the cerebellum, brain stem, and cerebral structures supplied by the vertebrobasilar circulation. Compared to the vertebrobasilar vasculature, the anterior cerebral vessels in the term infant have dense sympathetic innervation. Asphyxia, a potent sympathetic stimulator, may induce vasoconstriction in the anterior circulation and differentially accentuate the effects of hypoxia/ischemia on cerebral tissue. (J Child Neurol 1995;10:464-466).
Seizure and EEG Patterns in Angelman's Syndrome
Authors: Viani Francesco , Romeo Antonino , Viri Maurizio , Mastrangelo Massimo , Lalatta Faustina , Selicorni Angelo , Gobbi Giuseppe , Lanzi Giovanni , Bettio Daniela , Briscioli Vincenza , Di Segni Marina , Parini Rossella , Terzoli Gianluigi
Published: December 2008

We studied the seizure and polygraphic patterns of 18 patients with Angelman's syndrome. All patients showed movement problems. Eleven patients were also reported to have long-lasting periods of jerky movements. The polygraphic recording showed a myoclonic status epilepticus in nine of them. Seven patients had partial seizures with eye deviation and vomiting, similar to those of childhood occipital epilepsies. These seizures and electroencephalographic patterns suggest that Angelman's syndrome occurs in most of the patients as a nonprogressive, age-dependent myoclonic encephalopathy with a prominent occipital involvement. These findings indicate that, whereas ataxia is a constant symptom in Angelman's syndrome, the occurrence of a transient myoclonic status epilepticus may account for the recurrence of different abnormal movements, namely the jerky ones. (J Child Neurol 1995;10:467-471).
Brainstem Multiple Sclerosis in an 11-Year-Old Child Presenting as Acute Disseminated Encephalomyelitis
Authors: Mostafapour Sam P. , Enzmann Dieter , North Will , Hahn Jin S.
Published: December 2008

Multiple sclerosis and acute disseminated encephalomyelitis are demyelinating disorders of the central nervous system that can present initially as an acute focal demyelinating syndrome. We report an 11-year-old girl who initially presented with intractable vomiting and hypertension and later developed a subacute onset of focal neurologic (brainstem) signs. Magnetic resonance imaging (MRI) demonstrated a large solitary demyelinating lesion of the brain stem consistent with acute disseminated encephalomyelitis. Because of the morbidity associated with biopsy and its questionable value in the course of management of this patient, she was treated empirically with aggressive supportive measures and high-dose corticosteroid therapy. She had near full recovery, with only minimal neurologic sequelae. Six months later, she presented with similar focal neurologic signs, and a new lesion was found on MRI. Because of the separation of her two episodes in time and central nervous system location, a diagnosis of multiple sclerosis was made. Herein, we use this patient to illustrate the difficulty in distinguishing acute disseminated encephalomyelitis from multiple sclerosis in patients who present initially with an acute focal demyelinating syndrome. (J Child Neurol 1995;10:476-480).
Topical Review: Dystrophinopathies: Clarification and Complication
Authors: Samaha Frederick J. , Quinlan John G.
Published: December 2008

The purpose of this review is to analyze the clinical applications of a remarkable series of advances made in molecular genetics, primarily with regard to Becker muscular dystrophy. A new classification is required to clarify such syndromes as Duchenne and Becker muscular dystrophy. Dystrophinopathies can be seen in patients with early onset and a severe course (Duchenne muscular dystrophy), patients with later onset and milder weakness (Becker muscular dystrophy), patients with myalgia and cramp syndrome, and patients with dilated cardiomyopathies. Dystrophin testing in muscle is the most sensitive test for identification of dystrophinopathy patients, although gene deletion studies can make the diagnosis in most cases. (J Child Neurol 1996;11:13-20).
Outcome After Open-Heart Surgery in Infants and Children
Authors: Miller Geoffrey , Tesman Johanna R. , Ramer Jeanette C. , Baylen Barry G. , Myers John L.
Published: December 2008

We have studied the neurodevelopmental outcome of 104 consecutive unselected children who underwent open-heart surgery from 1987 through 1989. Survivors had formal neurologic and psychometric examinations after 2 years of age. Mean IQ was 90, and 78% had scores above 70. Cerebral palsy occurred in 22%. Deep hypothermia for longer than 45 minutes was associated with IQ less than 85 (P < .001) and later cerebral palsy (P = .02). Those less than 1 month old at operation had a median IQ of 96, and 25% had cerebral palsy. Median IQ for survivors of hypoplastic left heart syndrome was 66, only one had an IQ above 70, and 57% had cerebral palsy. Median IQ for transposition of great arteries was 109, only one was less than 85, and all had normal neurologic examinations. Those between 1 and 6 months of age at operation had a median IQ of 93, with 64% above 85, and 5% had cerebral palsy. Those older than 6 months had a median IQ of 99, with 70% above 85, and 13% had cerebral palsy. For infants less than 1 month old at operation, a strong association existed between outcome, type of lesion, and duration of deep hypothermia (P < .01), although not in all cases. In those older than 1 month at operation, no association existed between outcome and any study variable. Although the majority of children have an uneventful outcome after open-heart surgery, a significant morbidity exists. This is related to several factors, including type of lesion and duration of hypothermia, particularly in neonates; preoperative congenital and acquired lesions; and possible perioperative cerebrovascular events. (J Child Neurol 1996;11:49-53).
Topical Review: Baclofen in the Treatment of Cerebral Palsy
Authors: Albright A. Leland
Published: December 2008

Baclofen, a γ-aminobutyric acid agonist, acts at the spinal cord level to impede the release of excitatory neurotransmitters that cause spasticity. Oral baclofen improves cerebral spasticity mildly, but its activity is limited because of its poor lipid solubility. Cerebrospinal fluid baclofen levels after intrathecal administration are many times higher than those achieved after oral administration. Continuous intrathecal baclofen infusion has been used to treat cerebral spasticity in two patient groups: in older ambulatory children with inadequate underlying leg strength, and in patients with severe spasticity in both the upper and lower extremities. Responsiveness to intrathecal baclofen is confirmed by test injections before insertion of a programmable subcutaneous pump. Continuous intrathecal baclofen infusion dosages vary from 27 to 800 μg/day. Continuous intrathecal baclofen infusion reduces spasticity in the upper and lower extremities, and improves upper extremity function and activities of daily living but has no effect on athetosis in the dosages used to treat spasticity. Complications related to the intrathecal catheter occur in approximately 20% of patients, and infection requiring pump removal occurs in approximately 5%. Preliminary studies indicate that continuous intrathecal baclofen infusion alleviates some forms of generalized dystonia associated with cerebral palsy. (J Child Neurol 1996;11:77-83).
Predictors of Clonidine Response in Tourette Syndrome: Implications and Inferences
Authors: Lichter David G. , Jackson Lisa A.
Published: December 2008

Clonidine is an α-adrenergic agonist which may alleviate emerging symptoms in Tourette syndrome, an observation that has fueled speculation regarding involvement of stress-sensitive central noradrenergic systems in this disorder. We conducted a retrospective study of 53 juvenile patients with Tourette syndrome to assess predictors of short-term behavioral and tic response to oral clonidine and to examine the relationship, if any, among pretreatment blood pressure, tic severity, and clonidine response. When adverse effects were considered, older subjects experienced a better therapeutic response to clonidine, independent of dose. Improvement in symptoms of attention-deficit hyperactivity disorder was associated with a longer duration of vocal tics before treatment. Baseline sitting diastolic blood pressure was directly correlated with measures of tic severity but not with tic response to clonidine. The findings (1) provide indirect support for involvement of central noradrenergic systems in tic expression; (2) suggest that emergence of a tic-related neurophysiologic dysfunction may be necessary for optimal behavioral response to clonidine in Tourette syndrome; and (3) provide broad guidelines for the clinician considering clonidine therapy for pediatric patients with Tourette syndrome, particularly those with comorbid attention-deficit hyperactivity disorder. (J Child Neurol 1996; 11:93-97).
Apnea of Infancy, Seizures, and Gastroesophageal Reflux: An Important but Infrequent Association
Authors: Tirosh Emanuel , Jaffe Michael
Published: December 2008

Seventeen infants between 3 and 37 weeks of age were sequentially admitted for investigation of apnea of infancy or apparent life-threatening events associated with suspected regurgitation. They all underwent an overnight polygraphic study, including esophageal pH monitoring. In nine infants, gastroesophageal reflux was diagnosed. In five of them, the reflux was associated with apnea. However, unassociated episodes of apnea and gastroesophageal reflux occurred (7.1 times and four times, respectively) more frequently than associated episodes. In two of the five infants, a seizure preceded both reflux and apnea and might have acted as a trigger for the apparent life-threatening events. Infants with apparent life-threatening events or apnea of infancy frequently demonstrate gastroesophageal reflux that cannot be consistently related to their events. However, when the association is demonstrated, a common epileptic convulsive etiology should be considered. (J Child Neurol 1996;11:98-100).
Leber's Congenital Amaurosis Associated With Mitochondrial Dysfunction
Authors: Castro-Gago Manuel , Pintos-Martínez Elena , Beiras-Iglesias Andrés , Maroto Sagrario , Campos Yolanda , Arenas Joaquín , Eirís-Puñal Jesús
Published: December 2008

We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain. (J Child Neurol 1996;11:108-111).
Basal Ganglia Volumes in Children With Attention-Deficit Hyperactivity Disorder
Authors: Aylward Elizabeth H. , Reiss Allan L. , Reader Mark J. , Singer Harvey S. , Brown Jan E. , Denckla Martha B.
Published: December 2008

Previous research has demonstrated volume reduction of the left globus pallidus in children with the codiagnoses of Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), in comparison with children who have Tourette syndrome alone and with normal controls. The purpose of this study was to determine whether children with ADHD alone also had volume reduction of the globus pallidus or other basal ganglia structures. Subjects were 10 boys with ADHD, 16 boys with Tourette syndrome and ADHD, and 11 normal control boys. Groups were matched for age. Boys with ADHD were individually matched for age, handedness, and IQ to 10 of the 16 boys with Tourette syndrome and ADHD. Volumes of caudate, putamen, and globus pallidus were measured and corrected for brain volume. The boys with ADHD had significantly smaller left globus pallidus volume and total globus pallidus volume (corrected for brain volume) than the normal controls. The Tourette syndrome plus ADHD group did not differ from the ADHD group on any of the measures. We conclude that small globus pallidus volume, particularly on the left side, is associated with ADHD. (J Child Neurol 1996; 11: 112-115).