bluuebunny/crossref_metadata_2025 huggingface dataset:
Topical Review Article: Organic Acidurias: A Review Part 2
Authors: Ozand Pinar T. , Gascon Generoso G.
Published: December 2008

Laboratory findings are an essential part of the diagnostic approach to organic acidemias. In most organic acidemias, metabolism of glucose, ketone bodies, and ammonia is deranged primarily or secondarily, in addition to derangement of the acid-base balance. Hypoglycemia, lactic and/or ketoacidosis, and hyperammonemia of varying severity accompany the overt or compensated acidosis. In most instances, a definite diagnosis will be achieved by gas chromatography/mass spectrometry (GC/MS) studies of the urine. We detail the pattern of excreted organic acids in the major disorders. When the diagnosis reached by clinical and laboratory assessments is not conclusive, it must be supported by loading tests. We list the available methods of demonstrating the putative enzyme deficiency in the patient's cells and tissues. The majority of organic acidemias may be treated by limiting the source of or removing the toxic intermediary metabolite. We provide lists of available diets, supplements, and medications. In some instances, residual defective enzyme activity may be stimulated. We describe symptomatic management of the disturbed acid-base and electrolyte balance. (J Child Neurol 1991;6:288-303).
Unusual Variants of Infantile Spasms
Authors: Donat Jane F. , Wright Francis S.
Published: December 2008

During evaluation of video-electroencephalograms (EEGs) performed in our laboratory, we identified 11 patients who had unusual repetitive movements that appeared to be variants of infantile spasms. Movements included yawning, facial grimacing, eye movements, and transient focal motor activity. These symptoms coincided with generalized attenuation, slow-wave transients, or other EEG ictal changes characteristic of infantile spasms. The background EEGs showed true or modified hypsarrhythmia. This series of patients shows that infantile spasms may be extremely subtle and clinically atypical. Patients who have these variants may or may not also have typical infantile spasms. In some patients, the seizures appear to be time-related or medication-induced modifications of more typical infantile spasms. (J Child Neurol 1991;6:313-318).
Lorazepam in the Treatment of Refractory Neonatal Seizures
Authors: Maytal Joseph , Novak Gerald P. , King Katherine C.
Published: December 2008

We report the results of treatment of intractable seizures with lorazepam in seven neonates. All of the patients were part of a prospective study, who failed to respond to 40 mg/k of phenobarbital. Lorazepam was given intravenously at 0.05 mg/k and repeated up to a total dose of 0.15 mg/k if necessary. The diagnosis of seizures and the efficacy of treatment was assessed clinically and by EEG during the administration of lorazepam in three patients and on clinical grounds in four patients.

Six patients were full term and one was premature; there were five males and two females. Four patients had hypoxic-ischemic encephalopathy, two had intracranial hemorrhage, and one had bacterial meningitis.

Two patients received one dose of lorazepam, three received two doses, and two received three doses. Six patients responded with a complete cessation of seizures within three minutes of their last dose; the remaining patient (who received two doses) had a reduction in seizures.

No patients developed apnea or hypotension during or immediately after the infusion of lorazepam and no other adverse effects were observed. Four patients remained seizure-free for the rest of the neonatal period and no other anticonvulsant medications were added. Seizures recurred in one patient at 16 hours; subsequent intermittent seizures were managed with additional phenobarbital. In another patient, seizures recurred at 12 hours and subsequent intermittent seizures were managed with phenytoin. In one patient, seizures continued with reduction of frequency and duration.

We conclude that lorazepam may be effective in the treatment of neonatal seizures refractory to phenobarbital and that further treatment with intravenous phenytoin may be unnecessary under these circumstances. (J Child Neurol 1991;6:319-323).
Benign Familial Neonatal Convulsions Are Epileptic
Authors: Camfield Peter R. , Dooley Joe , Gordon Kevin , Orlik Phyllis
Published: December 2008

An infant with benign familial neonatal convulsions fortuitously had a clinical seizure during a routine EEG. The seizures had started on day 2 of life, and the EEG recording was performed on day 6. The EEG, although not complete, did show a simultaneous electrographic seizure. Our finding establishes that benign familial neonatal convulsions are indeed epileptic. (J Child Neurol 1991;6:340-342).
The Epidemiology and Natural History of Infantile Spasms
Authors: Cowan Linda D. , Hudson Leslie S.
Published: December 2008

Few population-based studies of infantile spasms have been done, and most reports have not included comparison groups. In spite of these limitations, this review attempts to summarize what is known about the distribution, etiology, and natural history of infantile spasms in populations; discusses the limitations of current data; and includes suggestions for further population-based research. Most estimates of the incidence of infantile spasms are between 0.25 and 0.42 per 1000 live births per year. Among children less than 10 years of age, the annual prevalence of infantile spasms is 0.14 to 0.19 per 1000. The peak age at onset of spasms is 4 to 6 months, and there appears to be a slight excess of male cases. The etiology of infantile spasms is unknown for 40% to 50% of affected children. Selected syndromes (eg, Aicardi syndrome, Down syndrome, etc) and inherited disorders (eg, tuberous sclerosis) may account for as many as one third of cases. Other factors, such as intrauterine infection, "birth injury," and head trauma have not been systematically evaluated, and thus, their contribution to the etiology of infantile spasms is uncertain. Areas for future etiologic research include controlled studies of immunologic factors and in utero and postnatal infections and further exploration of the interrelationship between infantile spasms and Lennox-Gastaut syndrome. (J Child Neurol 1991;6:355-364).
Phenylketonuria: An Underlying Etiology of Autistic Syndrome. A Case Report
Authors: Miladi Najoua , Larnaout Abdelmajid , Kaabachi Neziha , Helayem Mohamed , Ben Hamida Mongi
Published: December 2008

A 3.5-year-old girl with an autistic syndrome was investigated, and classic phenylketonuria (PKU) was identified. The search for PKU was undertaken systematically as part of an essential work-up of children with autism. ( J Child Neurol 1992;7:22-23).
Pyridoxine-Dependent Seizures: Report of a Case With Atypical Clinical Features and Abnormal MRI Scans
Authors: Tanaka Rieko , Okumura Mitsuyoshi , Arima Jun , Yamakura Shinji , Momoi Toru
Published: December 2008

A Japanese girl with atypical pyridoxine-dependent seizures is reported. Until 9 months of age the seizures had been controlled by conventional anticonvulsants. The initial administration of pyridoxine was followed by a collapse; the suppression-burst pattern changed to an almost flat pattern in the EEG. T1- and T2-weighted magnetic resonance imaging (MRI) scans showed poor differentiation between white and gray matter, and T2-weighted MRI scans showed periventricular hyperintensity areas adjacent to the posterior horns of lateral ventricles. The findings in this patient indicate that pyridoxine should be given to infants with intractable epilepsy, regardless of the response to anticonvulsants, and that resuscitation facilities should be available during such a trial. ( J Child Neurol 1992;7:24-28).
Staring Episodes in Children Analyzed by Telemetry
Authors: Nagarajan Lakshmi , Bye Annie M.
Published: December 2008

Staring episodes in children may be ictal or nonictal, and telemetry helps make this distinction. Twenty-seven children referred to our service for elucidating the nature of their staring spells were studied by telemetry. No staring events were recorded in four children. The staring events were not associated with electroencephalographic (EEG) changes in 12 children. In 11 children, the staring events had EEG accompaniments: four had generalized spike-and-wave changes; three had focal or asymmetrical changes; and four had generalized decrement (desynchronization), which has not been described before as an electrical correlate of staring. EEG video telemetry in this group of patients led to accurate diagnosis and appropriate medical, surgical or behavioral management. ( J Child Neurol 1992;7:39-43).
Fluent Aphasia in Children: Definition and Natural History
Authors: Klein Susan K. , Masur David , Farber Karen , Shinnar Shlomo , Rapin Isabelle
Published: December 2008

We compared the course of a preschool child we followed for 4 years with published reports of 24 children with fluent aphasia. Our patient spoke fluently within 3 weeks of the injury. She was severely anomic and made many semantic paraphasic errors. Unlike other children with fluent aphasia, her prosody of speech was impaired initially, and her spontaneous language was dominated by stock phrases. Residual deficits include chronic impairment of auditory comprehension, repetition, and word retrieval. She has more disfluencies in spontaneous speech 4 years after her head injury than acutely. School achievement in reading and mathematics remains below age level. Attention to the timing of recovery of fluent speech and to the characteristics of receptive and expressive language over time will permit more accurate description of fluent aphasia in childhood. ( J Child Neurol 1992;7:50-59).
A Neurologist's Approach to Neuroblastoma
Authors: Schor Nina Felice
Published: December 2008

Neuroblastoma is among the most common malignancies of childhood. Despite greatly improved therapy for some pediatric tumors, the prognosis for children with metastatic neuroblastoma has not changed significantly in the past 10 years. With conventional chemotherapy, radiation therapy, and surgery, children with metastatic neuroblastoma have a 20% long-term survival rate. We have pursued novel chemotherapeutic approaches to neuroblastoma that target the neurotransmitter receptors on the surface of these cells. Specificity for these neural crest tumor cells is effected by (1) selective protection of normal neuronal elements from toxicity, or (2) selective potentiation of toxicity for neural tumor cells. In the first instance, the oxygen radical-generating neurotransmitter analogue 6-hydroxydopamine is used as a neural crest-specific toxin. Normal neural crest cells are protected from this toxicity by oxygen radical-scavenging analogues of the compound WR2721, which is specifically taken up by nonneoplastic cells. In the second instance, neocarzinostatin, an antineoplastic natural product that must be activated by thiol groups to be toxic, is used in conjunction with 6-mercaptodopamine, a thiol-containing compound that gains specific entry into neural crest cells by virtue of its neurotransmitter-like structure. We have found that neocarzinostatin induces morphologic differentiation of neuroblastoma cells, and we are also currently characterizing the biochemical accompaniments of this morphologic change. (J Child Neurology 1992;7:93-98).
Six-Year Follow-up of a Case of Radiation Injury Following Treatment for Medulloblastoma
Authors: Brown Idalyn S. , Felton Rebecca H. , Key L. Lyndon , Elster Allen D. , Hickling William
Published: December 2008

Recent reports in the literature have documented long-term sequelae of radiation treatment in children, the most notable of which are diminished endocrine functioning and decline in intellectual ability. A case is presented in which both these long-term effects were seen 7 years after radiation treatment for medulloblastoma. Growth hormone and thyroid hormone deficiencies were identified and treated. Full-Scale IQ dropped from the 79th percentile to the 3rd percentile, and neuropsychological functioning ranged from normal to impaired. However, magnetic resonance imaging reveals few direct imaging correlates of J.M.'s neuropsychological deficits. If identified, hormone deficiencies in such patients can be successfully treated; intellectual deficits may present more of a management problem. In this case, cognitive deficits have contributed to considerable difficulty in school; however, with special classes and modifications, the patient is making progress. Our findings indicate that the long-term outcome for children with radiation injury may be improved significantly with hormone therapy and appropriate academic intervention, and argue strongly for systematic, sequential follow-up of such children so that appropriate intervention can be implemented and continued as necessary. ( J Child Neurol 1992;7:172-179).
Angelman Syndrome: Clinical Profile
Authors: Zori Roberto T. , Hendrickson Jill , Woolven Sheila , Whidden Elaine M. , Gray Brian , Williams Charles A.
Published: December 2008

To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of information: (1) physical examinations; (2) laboratory data and family questionnaire data of affected individuals; and (3) literature review. The questionnaire data describes a generally normal prenatal and birth history. Feeding difficulties, developmental delay, or seizures were the presenting problems in all infants. The diagnosis of Angelman syndrome, however, was not made in any infant prior to 1 year of age. Except for seizures, no medical or surgical complication was common, although a variety of visual complaints or findings were common. Sixty percent of Angelman syndrome children had a cytogenetically demonstrated deletion of chromosome 15q11-q13. The individuals with and without a deletion could not be differentiated clinically. Diagnosis in early childhood is therefore difficult, and a high index of suspicion is recommended. ( J Child Neurol 1992;7:270-280).
Improved Neuropsychological Outcome in Children With Brain Tumors Diagnosed During Infancy and Treated Without Cranial Irradiation
Authors: Moore Bartlett D. , Ater Joann L. , Copeland Donna R.
Published: December 2008

Neuropsychological outcome of 28 patients with brain tumors diagnosed before the age of 36 months (mean, 19 months) was assessed using a comprehensive battery of tests. Elapsed time between diagnosis and testing averaged 6.2 years. Half the patients had received cranial radiation therapy and surgery, with and without chemotherapy, whereas the rest had received only surgery, with or without chemotherapy. Groups were comparable with respect to tumor diagnosis and location, age at diagnosis, race, and sex. Intellectual functioning was significantly lower in children whose treatment included cranial irradiation than in those treated without cranial irradiation, and this effect was more pronounced in nonverbal than in verbal intellectual abilities. Mean scores for the radiation group were lower than for the no-radiation group in all areas assessed and were significantly below age-based normative means in five of the eight cognitive areas: intellectual, memory, attention, motor, and visual-spatial skills. Mean scores for children in the no-radiation group were generally within the average range in all cognitive areas except visual-spatial skills, which were significantly below age-based normative means. Endocrine deficiencies and growth retardation were much more prevalent in patients treated with cranial irradiation. Because the immature brain is susceptible to treatment-related pathologic changes, infants are at greater risk than older children for significant, long-term neuropsychological, endocrine, and growth sequelae. In children treated without cranial irradiation, morbidity was minimized without an increased rate of mortality. ( J Child Neurol 1992;7:281-290).
Abnormal Magnetic Resonance Images in Hemorrhagic Shock and Encephalopathy Syndrome
Authors: Glauser Tracy A. , Pachter Lee M. , Zimmerman Robert A.
Published: December 2008

Hemorrhagic shock and encephalopathy syndrome is an acute childhood illness that involves the rapid onset of multisystem failure, including central nervous system, renal, cardiovascular, hepatic, and hematologic dysfunction, and often leads to death or serious neurologic damage. We report the first case of a child with hemorrhagic shock and encephalopathy in which magnetic resonance imaging was used to define the cortical hemorrhagic involvement. ( J Child Neurol 1992;7: 371-374).
A Note on the Occurrence of Unusual Electroencephalographic Sleep Patterns in Selected Normal Children
Authors: Autret A. , Lucas B. , Degiovanni E. , de Toffol B. , Billard C.
Published: December 2008

Polysomnographic recordings were performed in 50 children free from any familial or personal history of seizure or neurologic diseases to evaluate the frequency of epileptiform and unusual electroencephalographic patterns in a normal population. A 9-year-old boy exhibited focal spikes that became bilateral with a density of 24% to 32% during slow wave sleep, and another boy showed a few spikes during slow wave sleep. In seven cases, 14- and 6-Hz rhythms were recorded, mostly in rapid eye movement sleep. A right rhythmic and temporal discharge was observed in one girl. Epileptiform electroencephalographic patterns are not infrequent, and 14- and 6-Hz rhythms during rapid eye movement sleep are common in normal children. (J Child Neurol 1992;7:422-426).
Mycoplasma Pneumoniae Infection Associated With Central Nervous System Complications
Authors: Fernandez Conrad V. , Bortolussi Robert , Gordon Kevin , Lee Spencer H. S. , Gatien John G. , Shahdrabadi M.S.
Published: December 2008

We describe two children who had central nervous system complications, encephalitis and meningoencephalitis, temporally associated with Mycoplasma pneumoniae. M pneumoniae was identified as the cause of the illnesses on the basis of at least a fourfold increase in complement fixation antibody titers. Despite extensive viral and bacterial investigation, no evidence of any other pathogen was found.

Two strategies were used to determine whether M pneumoniae was directly invasive: (1) by examining cerebrospinal fluid using a M pneumoniae- specific DNA probe and (2) by determining whether complement-fixating antibody to M pneumoniae was produced locally through comparison of the cerebrospinal fluid/serum ratio of M pneumoniae antibody to the cerebrospinal fluid/serum ratio of immunoglobulin M. Both assessments were negative. M pneumoniae did not appear to directly invade the central nervous system in these two patients. We conclude that the direct invasion of the cerebrospinal fluid is not necessary in the pathogenesis of M pneumoniae-induced neurologic disease. (J Child Neurol 1993;8:27-31).
The Boston Teacher Questionnaire. 1. Definition of Syndromes
Authors: Leviton Alan , Guild-Wilson Margaret , Neff Raymond K. , Gambill Paula
Published: December 2008

To obtain information about the academic function of 9-year-old children from their school teachers, we created a short, forced-choice questionnaire that asked about the child's knowledge and use of arithmetic tables, reading, spelling, persistence at tasks, flexibility of approach, ability to function independently, distractibility, daydreaming, impulsivity and overexcitability, hyperactivity, and ability to follow simple and sequential directions. Questionnaires were collected from the teachers of 3451 white children whose mothers had enrolled in the National Collaborative Perinatal Project. Six syndromes in girls and five in boys were identified by both cluster and factor analyses of these data. Common to both sexes were five syndromes we labeled arithmetic, tasks (ie, impersistent/dependent/inflexible), reading, attention, and hyperactive. A syndrome characterized by difficulty following directions was seen in girls only. The prevalence of these syndromes ranged from a low for hyperactivity of 2.3 per 100 girls to a high for the attention syndrome of 27.6 per 100 boys. The congruent results obtained with clustering and factor analysis, and the agreement between the observed prevalence of syndromes and prior expectations suggests that the Boston Teacher Questionnaire, as this instrument is called, identifies learning problems in 9-year-old children. (J Child Neurol 1993;8:43-53).
The Boston Teacher Questionnaire. 2. Assessments of Validity
Authors: Leviton Alan , Kirby Craig , Guild-Wilson Margaret , Neff Raymond K.
Published: December 2008

We assessed the validity of the Boston Teacher Questionnaire in a sample of 3451 9-year-old children. Those identified by the questionnaire as having a learning difficulty syndrome were compared to those without any characteristic of that syndrome. The validity reference measures were individually administered neuropsychological assessments at age 7 years and a group-administered reading achievement test at age 9 years. Girls and boys with the reading syndrome had much lower reading scores at age 9 years than did their peers. Boys, but not girls, with the arithmetic syndrome were much more likely than their peers to have arithmetic scores more than one grade below the expected level at age 7 years. Girls and boys with the tasks syndrome, characterized by impersistence, dependence, and inflexibility, were more likely than those without any features of the syndrome to be classified as having little or no goal orientation by a neuropsychologist who assessed the children in an office setting. Similarly, the neuropsychologist was much more likely than expected to have classified children with the attention syndrome as having a short attention span, and to have classified boys, but not girls, with the hyperactivity syndrome as having an unusual/extreme level and nature of overactivity. Children with any syndrome were more likely than others to have low scores on components of the Wechsler Intelligence Scale for Children, items of the Bender-Gestalt Test that assessed integration and distortion, and measures of reading comprehension. We conclude that the Boston Teacher Questionnaire validly identifies children with learning problems. (J Child Neurol 1993; 8:54-63).
A T-to-G Mutation at Nucleotide Pair 8993 in Mitochondrial DNA in a Patient With Leigh's Syndrome
Authors: Yoshinaga Harumi , Ogino Tatsuya , Ohtahara Shunsuke , Sakuta Ryoichi , Nonaka Ikuya , Horai Satoshi
Published: December 2008

We studied a patient with Leigh's syndrome using neurophysiologic, radiologic, enzymatic, biochemical, and molecular analysis. Her clinical course had started with acute encephalopathic symptoms at 7 months of age. With repeated remission and exacerbation, she developed hypotonia and symptoms of brainstem dysfunction, such as irregular respiration and swallowing difficulty. These symptoms were followed by epileptic seizures, including simple partial seizures and tonic spasms. Both serum lactate and serum pyruvate levels were elevated, and deficient activity was detected in cytochrome c oxidase in her quadriceps femoris muscle. From the early stages, we noted an abnormality in the auditory brainstem response and visual evoked potentials, and an abnormal symmetrical low-density area in the basal ganglia on the computed tomographic scan. We found a mitochondrial DNA point mutation at 8993 in blood samples from both the patient and her mother using a simple polymerase chain reaction method. The ratio of wild and mutant mitochondrial DNA calculated densitometrically on polymerase chain reaction products was 56.6% in the patient's blood cells and 8.4% in her mother's. This patient's disorder was thought to be maternally inherited Leigh's syndrome. Her brother had died of the identical clinical features at 1 year 9 months of age. (J Child Neurol 1993;8:129-133).
The Value of the Mini-Mental State Examination in Childhood: A Preliminary Study
Authors: Ouvrier R.A. , Goldsmith R.F. , Ouvrier S. , Williams I.C.
Published: December 2008

The Mini-Mental State Examination (MMSE), a screening test of higher mental function, has been modified slightly for use in a pediatric outpatient setting. The test, which takes 5 to 10 minutes to administer, covers a range of cognitive functions including orientation, attention-concentration, memory, language, and constructional ability. In a preliminary study, we have found that the test can be applied from the age of 4 years. Highly significant correlations were found between the MMSE score and chronologic age (r = .57; P < .001), reading age (r = .79; P < .001), and mental age (r = .83; P < .001). MMSE scores reach a plateau at a mental age of approximately 10 years. The MMSE is a suitable instrument for screening higher mental function in children at the age of 4 years and above and can be readily incorporated into the routine neurologic examination of children. ( J Child Neurol 1993;8:145-148).
Topical Review Article: Etiology of Stroke in Children
Authors: Riela Anthony R. , Roach E. Steven
Published: December 2008

Cerebrovascular disorders are more common than once suspected, and our ability to diagnose stroke in children has improved with the development of newer imaging techniques in recent years. Children have a wide array of risk factors that promote cerebral infarction or hemorrhage, and a likely cause can eventually be pinpointed in about two thirds of patients if a thorough diagnostic evaluation is performed. Ideally, a systematic evaluation should confirm the presence of a cerebrovascular lesion and also identify the cause, concentrating initially on the more common or treatable risk factors. Recognition of the cause of a child's stroke is important, because the likelihood of recurrence depends largely on the etiology and whether treatment is available. (J Child Neurol 1993;8:201-220).
Proton Magnetic Resonance Imaging and Spectroscopic Studies of the Pathogenesis and Treatment of Juvenile Dermatomyositis
Authors: Slopis J.M. , Jackson E.F. , Narayana P.A. , Papasozomenos S.C. , Butler I.J.
Published: December 2008

Juvenile dermatomyositis is an inflammatory disorder of muscle, skin, and connective tissue. Immune vasculopathy is central to the pathophysiology. We studied a 13-year-old boy with juvenile dermatomyositis using proton magnetic resonance imaging (MRI) with short tau inversion recovery (STIR), and proton magnetic resonance spectroscopy (MRS) to quantitate lipid and water in affected regions of muscle. Tissue perfusion was assessed by measuring tissue water concentration changes during isometric exercise of the tibialis anterior muscle. During sequential studies over 3 months of steroid treatment, STIR image abnormalities, resting water concentrations, and diminished perfusion returned to normal. Resting lipid concentrations increased during this period. MRI serves to guide muscle biopsy and monitor progress of the disease state. MRS demonstrates the vasculopathy and provides noninvasive assessment of steroid therapy in juvenile dermatomyositis. ( J Child Neurol 1993;8:242-249).
Electrophysiologic Correlates of Peripheral Nervous System Maturation in Infancy and Childhood
Authors: Parano Enrico , Uncini Antonio , De Vivo Darryl C. , Lovelace Robert E.
Published: December 2008

Peripheral nervous system maturation in infancy and childhood varies with age, especially during the first 2 years of life. Electrophysiologic values therefore change significantly between different age groups within these first 2 years and are different from adult values. Normal values of motor and sensory nerve conduction, distal motor latency, F-wave latency, and evoked response amplitude of peripheral nerves commonly tested are reported in 155 healthy children in seven age groups from 1 week to 14 years. Interval changes are clearly shown, and in comparison with adult values, the whole group has significantly slower nerve conduction velocities, with reduced muscle and nerve evoked response amplitudes. These differences are important to recognize when evaluating the peripheral nervous system of children. (J Child Neurol 1993;8:336-338).
Intramedullary Astrocytoma Presenting as Spinal Muscular Atrophy
Authors: Aysun Sabiha , Cinbis Mine , Özcan Osman Ekin
Published: December 2008

We present a 6-year-old patient with a spinal cord tumor who had been followed with the diagnosis of spinal muscular atrophy since the age of 23 months. Reasons for reevaluating the diagnosis of spinal muscular atrophy were the early onset of scoliosis, the slight asymmetry in weakness of extremities, and the appearance of urinary retention in the last 3 days. Magnetic resonance imaging revealed a very long, intramedullary tumor extending from the level of the seventh cervical segment to the conus medullaris, later reported to be a grade I astrocytoma. We therefore recommend that magnetic resonance imaging, a noninvasive and sensitive technique for intraspinal pathologies, be performed in every patient with an atypical form of spinal muscular atrophy. (J Child Neurol 1993;8:354-356).
The Rapid Change to Monotherapy With Valproic Acid in Children
Authors: Hurst Daniel L.
Published: December 2008

A review of hospitalized epilepsy patients at Texas Tech University identified 20 children during a 4-year period who had undergone a rapid change from other anticonvulsants to valproate monotherapy. All patients had difficult-to-treat or intractable epilepsy syndromes. In each case, sodium valproate was introduced over a 2- to 4-day period as all other anticonvulsants were withdrawn quickly and sequentially. No acute side effects were seen during hospitalizations, and only one patient reported gastrointestinal complaints. At time of discharge, 12 of the 20 patients were seizure free. Fifteen of the 20 patients were maintained on monotherapy following discharge. By the end of the study period, 12 of the 20 patients showed improvement with valproate, with nine patients experiencing complete seizure control. A rapid switch to valproate monotherapy can be done safely in an inpatient setting. ( J Child Neurol 1993;8:357-359).
Myoclonus Epilepsy With Ragged-Red Fibers: A Clinical and Electrophysiologic Follow-up Study on Two Sibling Cases
Authors: Ohtsuka Yoko , Amano Rumi , Oka Eiji , Ohtahara Shunsuke
Published: December 2008

We performed a 5-year clinical and electrophysiologic follow-up study on two sibling cases with myoclonus epilepsy with ragged-red fibers. Both had myoclonus, intention tremor, slight muscle weakness, slight mental disturbance, hearing impairment, and optic atrophy. Neither had epileptic attacks or truncal or gait ataxia. Biochemical activity of cytochrome c oxidase was at the lower limit of the normal range of values, and an adenine to guanine transition mutation at nucleotide 8344 in the transfer RNA specific for lysine of mitochondrial DNA was detected in both cases. The electroencephalograms showed slowing of basic patterns, diffuse spike-and-wave complexes, occipital dominant wave-and-spike phantoms, 6-and 14-Hz positive spikes, and photosensitivity. No definite deterioration of basic patterns was seen, and diffuse spike-and-wave complexes and photosensitivity gradually disappeared during the slowly progressive clinical course. P2 latencies of pattern-reversal visual evoked potentials throughout the clinical course and III through V interpeak latencies of auditory brainstem responses at follow-up were prolonged without giant sensory evoked potentials in both cases. (J Child Neurol 1993;8:366-372).
Progressive Encephalopathy Associated With Cytomegalovirus Infection Without Immune Deficiency
Authors: Koeda Tatsuya , Inagaki Masumi , Kawahara Hitoshi , Takada Kuniyasu , Eizuru Yoshito , Minematsu Toshio , Minamishima Yoichi
Published: December 2008

Slowly progressive encephalopathy caused by cytomegalovirus is an unusual disorder, and its pathogenesis remains unknown except for cases associated with the acquired immune deficiency syndrome and organ transplantation. We report a case who showed clinical features of progressive encephalopathy. Cytomegalovirus was repeatedly isolated from urine, and cytomegalovirus-infected cells were detected in bone marrow. Serial computed tomographic head scan revealed periventricular calcification and its progression to the thalamus, cerebellum, and brain stem. On autopsy, there were multiple calcifications and diffuse glial proliferation in the gray and white matter. Perivascular inflammation was only minimal. There was no evidence of immune deficiency. This case suggests that progressive encephalopathy can be caused by cytomegalovirus infection without immune deficiency. This type of cytomegalovirus infection may be unusual, but its serious outcome should remind us to detect it accurately. (J Child Neurol 1993;8:373-377).
Value of Serum Anti-Herpes Simplex Viral IgM Antibody Testing in Empirical Antiviral Treatment of Herpes Simplex Encephalitis
Authors: Wang Huei-Shyong , Huang Song-Chei
Published: December 2008

Early antiviral treatment is important for herpes simplex encephalitis. A reliable test for supporting empirical therapy with antiviral agents is urgently needed. Sixty-six children with fever, focal seizures, and consciousness disturbance had their sera examined for anti-herpes simplex viral immunoglobulin M (IgM) antibody with enzyme-linked immunosorbent assay. The result was positive in all seven patients confirmed to have herpes simplex encephalitis. Only two of the other 59 patients were positive on this test. The average period for the development of serologic positivity was 7.3 days from the onset of neurologic symptoms. Although most sera were not tested in the early stage, all were collected on admission day. Our data suggest that before further evidence indicates another diagnosis, this simple, but specific IgM antibody test could be used as a guide for deciding to continue the antiviral treatment for serologically positive cases or to discontinue antiviral treatment for serologically negative ones. Yet, we would not suggest diagnosing herpes simplex encephalitis with this test alone. ( J Child Neurol 1993;8:378-382).
Bilateral Temporal Arachnoid Cysts in Neurofibromatosis
Authors: Martínez-Lage Juan F. , Poza Máximo , Rodriguez Costa Trinidad
Published: December 2008

The occurrence of bilateral temporal arachnoid cysts has been considered as a rare event. Unilateral arachnoid pouches have been reported in a few instances associated with neurofibromatosis. The authors describe a 5-year-old girl with bilateral temporal arachnoid cysts who presented obvious stigmata of von Recklinghausen's disease. To the best of our knowledge, this is the first time that this association has been described in the literature. (J Child Neurol 1993;8:383-385).
Ipsilateral Constructional Apraxia
Authors: Lewis Donald W. , Geller Thomas
Published: December 2008

Two boys, aged 7 and 12 years, with nondominant (right) hemispheric acquired vascular lesions and left visual-field disturbances had right spatial constructional disabilities, contralateral to that which would be expected. These unusual disturbances may represent the previously unreported phenomena of ipsilateral neglect or ipsilateral constructional apraxia. (J Child Neurol 1994;9:41-44).
Paroxysmal Kinesigenic Dystonia After Methylphenidate Administration
Authors: Gay Charles T. , Ryan Stephen G.
Published: December 2008

We report a patient who developed paroxysmal kinesigenic dystonia shortly after initiation of therapy with methylphenidate for presumed attention deficit-hyperactivity disorder. Attacks persisted long after methylphenidate was discontinued and responded completely to treatment with carbamazepine. Though it is possible that methylphenidate caused this syndrome in our patient, it is more likely that the stimulant triggered the onset of a genetically determined disorder. (J Child Neurol 1994;9:45-46).
Pseudo-tics in Tourette Syndrome
Authors: Dooley Joseph M. , Stokes Aiden , Gordon Kevin E.
Published: December 2008

We describe two patients with Tourette syndrome who also had pseudo-tics. The psychogenic movements resolved in both children when the stressful issues in their lives were addressed. It is important to differentiate psychogenic symptoms from tics and compulsions in children with Tourette syndrome in order to avoid unnecessary medication and allow appropriate therapy. (J Child Neurol 1994;9:50-51).
Klüver-Bucy Syndrome in Juvenile Neuronal Ceroid Lipofuscinosis
Authors: Lanska Douglas J. , Lanska Mary Jo
Published: December 2008

Although Klüver-Bucy syndrome in adults is commonly associated with neurodegenerative conditions, Klüver-Bucy syndrome in children has been recognized almost exclusively in association with acute bitemporal injury or dysfunction. We report a child with juvenile neuronal ceroid lipofuscinosis, who developed dementia, childhood-onset autistic disorder, and Klüver-Bucy syndrome. The behavioral features of this case are compared with those of previously reported cases of juvenile neuronal ceroid lipofuscinosis and with previous reports of Klüver-Bucy syndrome in children and adults. (J Child Neurol 1994;9;67-69).
Isolated Glycerol Kinase Deficiency in a Neonate
Authors: Lewis Barry , Harbord Michael , Keenan Ross , Carey William , Harrison Rodney , Robertson Evelyn
Published: December 2008

Glycerol kinase deficiency occurs either as a relatively benign isolated enzyme deficiency, or as part of a syndrome resulting from a microdeletion in the p21 region of the X chromosome associated with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy. Developmental delay is a consistent feature of the microdeletion syndrome but not of the isolated enzyme defect. We report a case of isolated glycerol kinase deficiency in a neonate presenting with hypotonia, apnea, mild developmental delay, and glyceroluria, without evidence of adrenal insufficiency or myopathy. A mild communicating hydrocephalus was noted on magnetic resonance imaging brain scan. It is important, therefore, to exclude glyceroluria in infants being investigated for apnea and hypotonia. (J Child Neurol 1994;9:70-73).
Topical Review: Birth-Related Upper Brachial Plexus Injuries in Infants: Operative and Nonoperative Approaches
Authors: Laurent John P. , Lee Rita T.
Published: December 2008

Advances in intraoperative neuroelectrodiagnostic testing and microneurosurgical techniques have made it possible to accurately explore the brachial plexus of neonates. Since 1987, we have followed 250 infants with birth-related brachial plexus injuries, and successful operations have been completed on more than 70 infants. Fifty infants who underwent surgery have been followed for more than 18 months. Based on these accumulated data and historical data, this review describes both nonoperative and operative approaches to the treatment of birth-related brachial plexus injuries. ( J Child Neurol 1994;9:111-117).
Neuroimaging in Infantile Autism
Authors: Schifter Tobias , Hoffman John M. , Hatten H. Paul , Hanson Michael W. , Coleman R. Edward , DeLong G. Robert
Published: December 2008

Metabolic findings using [18F]fluorodeoxyglucose (FDG) with positron emission tomography (PET) and correlative anatomic findings with computed tomography (CT) or magnetic resonance imaging (MRI) were characterized in 13 children with infantile autism. Four of 13 patients had both an abnormal FDG-PET and an abnormal MRI, whereas seven of 13 patients had both a normal FDG-PET and a normal CT or MRI. Sixteen of a total of 195 brain areas qualitatively examined with FDG-PET had a hypometabolic abnormality on PET. Three of the five abnormal structural imaging studies revealed neuronal migrational anomalies (focal pachygyria). In two of the five patients with anatomic abnormalities, these were noted only after knowledge of the FDG-PET findings. Our experience reveals that anatomic and metabolic abnormalities can be found in children who exhibit autistic behavior. An FDG-PET study may provide evidence of metabolic dysfunction after an initially unremarkable MRI scan because subtle anatomic abnormalities (as those seen with neuronal migrational anomalies) may be found only after knowledge of a regional metabolic abnormality. ( J Child Neurol 1994;9:155-161).
Episodic Brainstem Compression Masquerading as Electrodecremental Seizures
Authors: Lucas Sylvia , Solomon Gail , Labar Douglas , Chutorian Abe
Published: December 2008

An 8-year-old boy developed generalized tonic spasms lasting minutes accompanied by an electrodecremental event on electroencephalogram in association with increased intracranial pressure caused by shunt malfunction. The electroencephalographic abnormalities and clinical attacks occurred despite an otherwise normal neurologic examination, normal initial opening pressure on lumbar puncture and shunt tap, and only mild ventricular dilation revealed by brain imaging. There was no improvement with antiepileptic drugs. Further signs of uncal herniation led to repeat tap of the shunt, revealing a pressure of 800 mm of water. After revision of the shunt "seizures" stopped and the electroencephalogram returned to normal. Antiepileptic drugs were discontinued, with no recurrence of events. (J Child Neurol 1994;9:167-169).
Pulmonary Function in Spinal Muscular Atrophy
Authors: Samaha F.J. , Buncher C.R. , Russman B.S. , White M.L. , Iannaccone S.T. , Barker L. , Burhans K. , Smith C. , Perkins B. , Zimmerman L.
Published: December 2008

We present the first prospective study on pulmonary function in spinal muscular atrophy patients. Seventy-seven spinal muscular atrophy patients, ages 5 to 18 years, from three centers, were studied with regard to forced vital capacity, using height as a predictor. Patients were categorized into four motor function categories. The highest-functioning group had normal or near-normal values, and those who sat with support had the lowest values. Those with intermediate function had intermediate values. Forced vital capacity was studied longitudinally in 40 spinal muscular atrophy patients for 1.1 to 4.4 years. Eighty-eight percent of patients grew in height, but only 35% showed an increase in height-adjusted forced vital capacity percent. In those patients with the least function, 100% lost height-adjusted forced vital capacity over time. In those patients with the highest function, 57% lost height-adjusted forced vital capacity. In addition, the basic forced vital capacity, not correlated to height, decreased in 43% of cases. These pulmonary function alterations appear to be important determinants for function and survival in spinal muscular atrophy patients. (J Child Neurol 1994;9:326-329).
Topical Review: Electrodiagnosis of Infantile Botulism
Authors: Gutierrez Alvaro R. , Bodensteiner John , Gutmann Ludwig
Published: December 2008

Analysis of the literature on the electrophysiologic features of infantile botulism was undertaken. Small compound muscle action potential amplitude is a very sensitive feature but lacks specificity. The decremental response to 2- to 3-Hz repetitive nerve stimulation is inconsistent and not a reliable sign. Tetanic and posttetanic facilitation are highly sensitive and highly specific. Absence of posttetanic exhaustion is also highly specific for infant botulism and shared only by hypermagnesemia. We conclude that the findings of low compound muscle action potential amplitude in combination with tetanic facilitation or posttetanic facilitation and absence of posttetanic exhaustion constitute the triad on which the electrodiagnosis of infantile botulism can be supported. (J Child Neurol 1994;9:362-365).
Myelinoclastic Diffuse Sclerosis (Schilder's Disease): Report of a Case and Review of the Literature
Authors: Afifi Adel K. , Bell William E. , Menezes Arnold H. , Moore Steven A.
Published: December 2008

The clinical, neuroimaging, and neuropathologic features of Schilder's disease in a 17-year-old girl are presented and compared to 11 well-documented cases reported since 1912. The evolution of knowledge about Schilder's disease and the confusion in nomenclature are reviewed. Signs and symptoms in this case and others reported in the literature are nonspecific and may mimic mass lesions. Neuroimaging studies also may mimic brain tumor or abscess; however, the absence of significant edema, the irregular and incomplete ring enhancement, the discrepancy between size of the lesions and the associated mass effect, and the absence of other lesions elsewhere in the brain may help differentiate Schilder's disease from neoplasm, infection, and other demyelinating lesions. Although frozen sections of these lesions are often interpreted as astrocytoma, the inflammatory, primarily histiocytic, nature of Schilder's disease is more easily recognized in paraffin-embedded material. Unique features of this case include multiple unilateral lesions and the cyst-like degeneration present in both lesions. Multiple lesions in Schilder's disease are characteristically bilateral. The examination of aspirated fluid is the first such report in Schilder's disease. The limitation of multiple lesions in our case to one hemisphere calls for reexamination of the restrictive 1985 criteria of Poser for the diagnosis of Schilder's disease. (J Child Neurol 1994;9:398-403).
Neuropathology of Propionic Acidemia: A Report of Two Patients With Basal Ganglia Lesions
Authors: Hamilton Ronald L. , Haas Richard H. , Nyhan William L. , Powell Henry C. , Grafe Marjorie R.
Published: December 2008

Propionic acidemia is a rare genetic disorder of amino acid metabolism caused by deficient activity of propionyl coenzyme A carboxylase. Neuropathologic changes previously reported in infants have been white-matter vacuolization or spongiosis. In children who survive beyond infancy, abnormalities have been found primarily in the basal ganglia. We report neuropathologic findings in two patients with propionic acidemia diagnosed in infancy who survived 35 months and 9 years, respectively. Examination of the brain of the 35-month-old boy showed vascular and parenchymal mineralization, focal pallor and spongy change, and foci of acute neuronal injury. These changes were similar to those previously described. The 9-year-old girl was in good metabolic control when she died, and presented a neuropathologic picture not previously described. She was found at autopsy to have acute hemorrhagic lesions in the caudate, putamen, and globus pallidus bilaterally and in the left ventral thalamus. There was focal neuronal loss, but no acute hypoxic/ischemic neuronal injury. Vascular proliferation and swollen endothelial cells were seen in the basal ganglia, thalamus, and substantia nigra, but not in other regions of the brain. Electron microscopy showed swelling of endothelial cells with viable adjacent brain parenchyma. The endothelial changes suggest a breakdown of the blood-brain barrier. ( J Child Neurol 1995; 10:25-30).