bluuebunny/crossref_metadata_2025 huggingface dataset:
Recurrent Acute Disseminated Encephalomyelitis Associated With Acute Cytomegalovirus and Epstein-Barr Virus Infection
Authors: Revel-Vilk Shoshana , Hurvitz Haggit , Klar Aharon , Virozov Yelena , Kom-Lubetzki Isabelle
Published: January 2008

We describe a 56 /12-year-old girl with recurrent episodes of acute disseminated encephalomyelitis following an acute cytomegalovirus infection and associated reactivated Epstein-Barr virus. Complete clinical recovery was obtained with intravenous immunoglobulin. ( J Child Neurol 2000;15:421-424).
Bone Mineral Density and Turnover in Children With Attention-Deficit Hyperactivity Disorder Receiving Methylphenidate
Authors: Lahat Eliezer , Weiss Mordechai , Ben-Shlomo Anat , Evans Sandra , Bistritzer Tzvy
Published: January 2008

Attention-deficit hyperactivity disorder (ADHD) is the most common behavior disorder among children; methylphenidate is a drug frequently prescribed for the control of its symptoms. One of the potential side effects of methylphenidate that concerns parents is its impact on the growth of children, since the mechanism by which methylphenidate might influence growth is not known. As linear growth is associated with an increase in bone mineral density and turnover, this study was undertaken to evaluate bone mineral density by dual photon absorptiometry and bone turnover by measuring serum bone-specific alkaline phosphatase and the urinary deoxypyridinoline excretion rate in children treated with methylphenidate for 1 to 2 years as compared to a control group. There were no significant differences in bone mineral density at either the lumbar spine or femoral neck in the study group (0.662 ± 0.04 and 0.735 ± 0.07 g/cm2, respectively) as compared to the controls (0.675 ± 0.05 g/cm2 and 0.734 ± 0.07 g/cm2, respectively). Furthermore, there were no significant differences in serum bone-specific alkaline phosphatase in the study group (58 ± 22 U/L) as compared to the control children (71 ± 34 U/L) or in urinary deoxypyridinoline in the study group (34 ± 38 nM/mM), as compared to the control group (27 ± 12 nM/mM). In conclusion, our data do not support a significant effect of methylphenidate on bone mineral density turnover in children when used for 1 to 2 years. (J Child Neurol 2000;15:436-439).
Rapid Eye Movement Sleep in Breath Holders
Authors: Kohyama Jun , Hasegawa Takeshi , Shimohira Masayuki , Fukumizu Michio , Iwakawa Yoshihide
Published: January 2008

One-night polysomnography was performed on seven subjects suffering from breath-holding spells, including one whose death was suggested to be a consequence of a breath-holding spell. The fatal case showed no rapid eye movements (REMs) during REM sleep, although he exhibited REMs during wakefulness. The average numbers of both REMs and bursts of REMs in REM sleep in the other six breath holders were significantly lower than those in age-matched controls. The breath holders showed no airway obstruction, desaturation, or sleep fragmentation. Since the rapid ocular activity in REM sleep is generated in the brain stem, we hypothesized that a functional brainstem disturbance is involved in the occurrence of breath-holding spells. (J Child Neurol 2000;15:449-452).
Positron Emission Tomography in Imaging Spinal Cord Tumors
Authors: Wilmshurst Jo M. , Barrington Sally F. , Pritchard Dylan , Cox Tim , Bullock Peter , Maisey Michael , Robinson Richard O.
Published: January 2008

The ability of positron emission tomography (PET) to detect spinal cord tumors was studied prospectively in 14 patients presenting over a 5-year period. Abnormal uptake by [ 18F]-fluorodeoxyglucose (FDG) or 11C-methionine was detected in all except one. These data were assessed in relation to magnetic resonance imaging (MRI) findings with regard to tumor type and extent preoperatively, findings at operation, and subsequent clinical course. The group consisted of six astrocytomas, five ependymomas, one mixed ependymoma and astrocytoma, one schwannoma, and one ganglioglioma, all confirmed histologically. This is the largest study comparing spinal PET to MRI. Accurate preoperative correlation between PET and MRI was found in all eight patients scanned at first presentation. The PET uptake was in keeping with the low-grade histology of the tumors. Postoperatively, PET and MRI findings were in agreement in nine patients. In eight of these the findings were in keeping with the subsequent clinical course. In three patients, however, the PET findings were at variance with the clinical course and MRI findings. In one, persistent FDG uptake after radiotherapy was seen where there was subsequent tumor resolution. In two patients with low-grade astrocytomas, scanned with FDG and 11C-methionine, respectively, tracer was not taken up by residual tumor. In this small group of patients, PET did not provide additional useful information. This could be because all tumors studied were low grade and the limited spatial resolution of PET does not lend itself to imaging small spinal cord tumors. The prospective study of larger numbers of patients with a wider range of tumor types is required, but this might be difficult to achieve given the rarity of spinal cord tumors. (J Child Neurol 2000;15:465-472).
Adjunctive Thalidomide Therapy of Childhood Tuberculous Meningitis: Possible Anti-Inflammatory Role
Authors: Schoeman Johan F. , Springer Priscilla , Ravenscroft Alice , Donald Peter R. , Bekker Linda-Gail , van Rensburg Anita Janse , Hanekom Willem A. , Haslett Patrick A. J. , Kaplan Gilla
Published: January 2008

The objective of this study was to determine the safety and tolerability of the immunomodulatory agent thalidomide as adjunct therapy in children with tuberculous meningitis. Children with stage 2 tuberculous meningitis received oral thalidomide for 28 days in a dose-escalating study, in addition to standard four-drug antituberculosis therapy, corticosteroids, and specific treatment of complications such as raised intracranial pressure. Clinical and laboratory evaluations were carried out. Fifteen patients (median age, 34 months) were enrolled. Thalidomide was administered via nasogastric tube in a dosage of 6 mg/kg/day, 12 mg/kg/day, or 24 mg/kg/day. The only adverse events possibly related to the study drug were transient skin rashes in two patients. Levels of tumor necrosis factor-α in the cerebrospinal fluid decreased markedly during thalidomide therapy. Clinical outcome and neurologic imaging showed greater improvement than that experienced with historical controls. Thalidomide appeared safe and well tolerated in children with stage 2 tuberculous meningitis and could have important anti-inflammatory effects. These promising results have led us to embark on a randomized, double-blind, placebo-controlled trial of the efficacy of thalidomide in tuberculous meningitis. ( J Child Neurol 2000;15:497-503).
Clinical Correlates of Brain Morphometric Features of Subjects With Low-Functioning Autistic Disorder
Authors: Elia Maurizio , Ferri Raffaele , Musumeci Sebastiano A. , Panerai Simonetta , Bottitta Maria , Scuderi Carmela
Published: January 2008

Numerous neuropathologic and imaging studies have reported different structural abnormalities in the brains of autistic subjects. However, whether or not the degree of brain abnormality is correlated with the severity of developmental impairment in autistic disorder is still unknown. The midsagittal area of the cerebrum, corpus callosum, midbrain, cerebellar vermis, and vermal lobules VI and VII was measured by means of magnetic resonance imaging in 22 boys with low-functioning autistic disorder and in 11 age-matched normal controls. Morphometric measures were statistically compared between groups and correlated with age and scores on the Psychoeducational Profile-Revised and the Childhood Autism Rating Scale. A significant negative correlation was found between midsagittal area of the cerebrum and age in patients with autistic disorder, and a positive correlation was found between the midsagittal area of the midbrain and some sub-scales of the Psychoeducational Profile—Revised. ( J Child Neurol 2000;15:504—508).
Methylenetetrahydrofolate Reductase Deficiency: Importance of Early Diagnosis
Authors: Fattal-Valevski Aviva , Bassan Haim , Korman Stanley H. , Lerman-Sagie Tally , Gutman Alisa , Harel Shaul
Published: January 2008

Methylenetetrahydrofolate reductase deficiency is the most common inborn error of folate metabolism and should be suspected when homocystinuria is combined with hypomethioninemia. The main clinical findings are neurologic signs such as severe developmental delay, marked hypotonia, seizures, microcephaly, apnea, and coma. Most patients present in early life. The infantile form is severe, with rapid deterioration leading to death usually within 1 year. Treatment with betaine has been shown to be efficient in lowering homocysteine concentrations and returning methionine to normal, but the clinical response is variable. We report two brothers with methylenetetrahydrofolate reductase deficiency: the first was undiagnosed and died at 8 months of age from neurologic deterioration and apnea, while his brother, who was treated with betaine from the age of 4 months, is now 3 years old and has developmental delay. (J Child Neurol 2000;15:539—543).
Intracranial Fibromuscular Dysplasia in a Six-Year-Old Child: A Rare Cause of Childhood Stroke
Authors: DiFazio Marc , Hinds Sidney R. , Depper Mark , Tom Bryony , Davis Ronald
Published: January 2008

Intracranial fibromuscular dysplasia is a nonatheromatous angiopathy that most commonly affects adult women and is rarely recognized in children. Symptoms include stroke and headache, although the vasculopathy may be asymptomatic. Diagnosis is based on angiographic appearance, commonly described as a "string of beads." The etiology of intracranial fibromuscular dysplasia is not known, although possible causes include genetic predisposition, trauma, and underlying connective tissue disease. Treatment of intracranial fibromuscular dysplasia is largely supportive once symptoms become manifest. We report a 6-year-old girl who presented to our center for further evaluation of a large left middle cerebral artery distribution infarction. The patient was previously healthy, without known risk factors for stroke. Initial symptoms consisted of a dense global aphasia and a right hemiparesis. On arrival, the patient's aphasia had improved but she continued to have significant deficits in both receptive and expressive language as well as residual right hemiparesis. Magnetic resonance imaging and conventional angiographic studies demonstrated characteristic beading of the distal portion of the left internal carotid artery, as well as the proximal middle cerebral artery. Laboratory evaluation, echocardiogram, and renal ultrasound were normal. The renal vasculature did not demonstrate evidence of intracranial fibromuscular dysplasia. In conclusion, intracranial fibromuscular dysplasia should be considered in the differential diagnosis of childhood stroke. When recognized, other sites of vascular involvement should be sought, and consideration of underlying disorders is important, as connective tissue disorders have been associated with a propensity to develop this vascular abnormality. Careful follow-up is warranted, due to possible progression of disease. ( J Child Neurol 2000;15:559-562).
Methotrexate Treatment Protocols and the Central Nervous System: Significant Cure With Significant Neurotoxicity
Authors: Shuper Avinoam , Stark Batya , Kornreich Liora , Cohen Ian J. , Aviner Shraga , Steinmetz Adam , Stein Jeremiah , Goshen Yaacov , Yaniv Isaac
Published: January 2008

Methotrexate can influence the central nervous system through several metabolic toxic pathways. These effects can be categorized as immediate, acute to subacute, or chronic neurologic syndromes. The acute to subacute syndrome occurs frequently in acute lymphoblastic leukemia treatment protocols, generally manifesting with focal neurologic signs and changes seen on magnetic resonance imaging and single photon emission computed tomography. While in some patients the neurotoxicity is transient and benign and allows for continuation of chemotherapy, in others it can be quite severe and debilitating, leading to permanent neurologic deficits. The need to modify the treatment protocols when neurotoxicity appears is not fully established. It is also unknown whether the use of sufficient amounts of leucovorin can overcome the toxic effects of the drug. (J Child Neurol 2000;15:573-580).
Long-Term Follow-Up of Auditory Agnosia as a Sequel of Herpes Encephalitis in a Child
Authors: Kaga Makkiko , Shindo Mitsuko , Kaga Kimitaka
Published: January 2008

We report a pediatric patient with auditory agnosia as a sequel of herpes encephalitis. His early development was completely normal. He uttered three words at 12 months old. Disease onset was 1 year and 2 months of age. He was discharged from the hospital seemingly with no sequel; however, he could not recover his intelligible words even at age 2 years. He was diagnosed as having auditory agnosia caused by bilateral temporal lobe injury. We began to train him at once, individually and intensively. Adult patients with pure auditory agnosia followed by two episodes of temporal lobe infarction have impairment in central hearing but not inner language. Therefore, they can communicate by reading and writing. Moreover, impairment in hearing is not always severe and is often transient. However, despite long-term (more than 15 years) energetic education and almost normal intellectual ability (Performance IQ of Wechsler Intelligence Scale for Children-Revised was 91), our patient's language ability was extremely poor. Cerebral plasticity could not work fully on our patient, whose bilateral temporal lobe was severely injured in early childhood. The establishment of a systematic training method in such patients is an urgent objective in this field. (J Child Neurol 2000;15:626-629).
Postinfectious Encephalomyelitis: Etiologic and Diagnostic Trends
Authors: Hung Kun-Long , Liao Hung-Tsai , Tsai Min-Lan
Published: January 2008

Fifty cases of postinfectious encephalomyelitis admitted to our Pediatric Department during the period 1980 to 1997 were consecutively collected and reviewed. There were 28 males and 22 females. The age of onset ranged from 9 months to 14 years. The antecedent infections included measles (6 cases), rubella (5 cases), mumps (4 cases), chicken pox (4 cases), Epstein-Barr virus infection (11 cases), mycoplasma infection (6 cases), and unknown etiology (14 cases). The cessation of measles, rubella, and mumps as causes for encephalomyelitis in our patients corresponds with the introduction of a measles-mumps-rubella nationwide vaccination program in Taiwan commencing in 1992. The main clinical symptoms were fever, headache, and/or vomiting, seizure, and motor weakness. The presenting signs included altered consciousness, meningeal signs, cranial nerve palsy, brainstem signs, involuntary movement, and cerebellar signs. Computed tomography scans were abnormal for 14 (56%) of 25 patients studied, whereas magnetic resonance imaging (MRI) disclosed lesions in 14 (82%) of 17 patients, with abnormal signals in various parts of the cerebral hemisphere, as well as in the basal ganglion, diencephalon, midbrain, brain stem, and cerebellum. Of the three patients with negative MRI findings, an abnormal finding on somatosensory evoked potential was noted for one patient, and a focal decrease in tracer uptake on single photon emission computed tomography (SPECT) was found for the other two patients. This study demonstrates that the causative agents of postinfectious encephalomyelitis in Taiwan have changed from those of traditional exanthematous diseases to nonspecific respiratory infections and suggests that this may also be the case in other parts of the world. MRI remains the imaging method of choice, whereas other neurofunctional studies such as evoked potentials and SPECT are complementary for the diagnosis. (J Child Neurol 2000;15:666-670).
Early-Onset Moyamoya Syndrome in a Patient With Down Syndrome: Case Report and Review of the Literature
Authors: Dai Alper I. , Shaikh Zubair A. , Cohen Michael E.
Published: January 2008

Moyamoya disease is a chronic occlusive cerebrovascular disorder. It can occur as a primary disease or as a syndrome associated with a variety of conditions. Usually it takes 1 to 2 years to develop a classic moyamoya pattern. We report a 20-month-old girl with Down syndrome and moyamoya syndrome who presented with seizure and hemiparesis. To our knowledge, this is the youngest case reported with moyamoya syndrome and Down syndrome. The prognosis and current treatment of moyamoya syndrome and its relation to Down syndrome are reviewed. There is some reason to speculate that the abnormalities associated with Down syndrome might create a vulnerability for the development of moyamoya syndrome. (J Child Neurol 2000;15:696-699).
The Ketogenic Diet: Seizure Control Correlates Better With Serum β-Hydroxybutyrate Than With Urine Ketones
Authors: Gilbert Donald L. , Pyzik Paula L. , Freeman John M.
Published: January 2008

The objective of this study was to determine the relationship between β-hydroxybutyrate levels and seizure control in children on the ketogenic diet. Seventy-four children on the ketogenic diet presenting for routine follow-up visits had blood levels of β-hydroxybutyrate correlated with their seizure control. Forty-two children admitted for initiation of the ketogenic diet had urine ketones measured by dipstick and correlated with simultaneous blood levels of β-hydroxybutyrate. Blood β-hydroxybutyrate levels statistically correlated with seizure control (P = .003). Children with blood β-hydroxybutyrate levels greater than 4 mmol/L were significantly more likely to have a decrease in seizure frequency than those with levels less than 4 mmol/L. Urine ketones of 4+ (160 mmol/L) were found on dipstick when blood β-hydroxybutyrate levels exceeded 2 mmol/L. Seizure control correlates with blood β-hydroxybutyrate levels and is more likely when blood β-hydroxybutyrate levels are greater than 4 mmol/L. The traditional measurement of urine ketones by dipsticks in children on the ketogenic diet provides a less than optimal assessment of the degree of blood ketosis. Three to four plus (80-160 mmol/L) urine ketones are necessary, but not necessarily sufficient, to achieve optimal seizure control in children on the ketogenic diet. At present, however, urine ketones are the only readily available inexpensive approach to ketone assessment. (J Child Neurol 2000; 15:787-790).
Evidence for Altered Basal Ganglia and Cortical Functions in Transient Idiopathic Dystonia
Authors: John Barbara , Klemm Edzard , Haverkamp Fritz
Published: January 2008

Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia. We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a day. Neurologic findings and the psychomotor development were and remained normal. Neurometabolic screening tests and cerebral magnetic resonance imaging showed normal results. Functional cerebral imaging showed decreased perfusion of the basal ganglia and the left temperomesial cortex using single photon emission computed tomography (SPECT with technetium 99m hexamethylpropyleneamine oxime [99mTc-HMPAO]) and decreased glucose metabolism in the basal ganglia and the cerebellum using positron emission tomography (PET with [18 F]fluorodeoxyglucose [18FDG]). Follow-up revealed that the episodes disappeared at the age of 16 months. The findings of PET and SPECT give evidence of an alteration in basal ganglia function but also in functions of other central nervous system regions, which may, however, be temporary. (J Child Neurol 2000;15:820-822).
Mitochondrial DNA Depletion in Children
Authors: Tsao Chang-Yong , Mendell Jerry R. , Luquette Mark , Dixon Brad , Morrow Grant
Published: January 2008

The first girl of an unrelated couple was noted to have failure to thrive since age 3 months, generalized hypotonia and weakness, hepatomegaly, hypoglycemia, and lactic acidosis at 4 months. She was found to have severe mitochondrial DNA (mtDNA) depletion and respiratory chain complex IV deficiency in both skeletal muscle and liver but without other common mtDNA mutations. Her younger brother developed vomiting at age 3 weeks and was diagnosed as having pyloric stenosis. His skeletal muscle and liver also showed severe mtDNA depletion. He developed generalized weakness and hypotonia, hepatomegaly, and lactic acidosis at age 3 months. Both siblings died of hepatic failure and hemorrhagic complication before 6 months of age. The brother also had chemical pancreatitis, which had not been reported before in mtDNA depletion in children. Severe mtDNA depletion may present with nonspecific symptoms such as vomiting, failure to thrive, and developmental delay; multiorgan involvement such as hepatomegaly, pancreatitis, and myopathy occurs later. Mitochondrial DNA depletion should be considered in the differential diagnosis in children with developmental delay or failure to thrive of unknown etiology. (J Child NeuroL 2000;15:822-824).
Cerebellar Involvement in Langerhans' Cell Histiocytosis: A Progressive Neuropsychiatric Disease
Authors: Shuper Avinoam , Stark Batia , Yaniv Yitshak , Zaizov Rina , Carel Cynthia , Sadeh Michelle , Steinmetz Adam
Published: January 2008

We describe a 21-year-old patient who was being followed since the age of 3½ years for Langerhans' cell histiocytosis. Although previously a bright and gifted student, the patient presented at age 16½ with new-onset cerebellar neurologic signs, obsessive-compulsive disorder, and dementia. Findings on magnetic resonance imaging study of the brain were normal, but brain single photon emission computed tomography with technetium 99m ethylene cysteinate dimer showed markedly decreased cerebellar perfusion. This case is unique for the wide extent of the central nervous system involvement in Langerhans' cell histiocytosis, which has not been reported previously. Although obsessive-compulsive disorder has also been associated with several other cerebellar disorders, it is still unknown whether the cerebellum plays a role in its development. We suggest that in some cases, brain single photon emission computed tomography may be superior to magnetic resonance imaging for demonstrating cerebellar disorder in Langerhans' cell histiocytosis. (J Child Neurol 2000;15:824-826).
Gelastic Seizures of Neocortical Origin Confirmed by Resective Surgery
Authors: Kurle Philip J. , Sheth Raj D.
Published: January 2008

Ictal laughter is a relatively unusual phenomenon that appears to arise from within hypothalamic hamartomas. Gelastic seizures of neocortical origin are rare and when reported typically originate from temporofrontal regions in proximity to the hypothalamus, raising the possibility of a subtle lesion in the hypothalamus. A girl with gelastic seizures originating in a dysembryoblastic neuroepithelial tumor at the cranial vertex had resolution of her seizures following surgical resection. Electrical propagation of seizures via the cingulate gyrus appears to be an alternative mechanism underlying gelastic seizures. (J Child Neurol 2000; 15:835-838).
Facial and Skeletal Malformations, Mental Retardation, Aganglionosis, and Neurogenic Muscle Weakness: A Variant of Niikawa-Kuroki Syndrome or a New Syndrome?
Authors: Greco Donatella , Romano Corrado , Elia Maurizio
Published: January 2008

We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripheral nervous system, is considered. ( J Child Neurol 2001;16:296-298).
Regulation of Brain-Derived Neurotrophic Factor (BDNF) Expression Following Antibiotic Treatment of Experimental Bacterial Meningitis
Authors: Ling Li  , Shui Quan-Xiang , Zhao Zheng-Yan
Published: January 2008

Although more and more new potent antibiotics have been used, mortality and neurologic deficits still occur frequently following bacterial meningitis in children. In this article, the expression of brain-derived neurotrophic factor messenger ribonucleic acid (RNA) and its production in the brains of rats were investigated during the course of experimental bacterial meningitis and after treatment with an antibiotic plus dexamethasone. In the brains of Streptococcus pneumoniae -inoculated rats, brain-derived neurotrophic factor (BDNF) messenger RNA was obviously up-regulated after inoculation for 24 hours (P < .01) and then declined but was still greater than that in the brains of control rats after inoculation for 5 days (P < .05). The expression of brain-derived neurotrophic factor in the brains of infected rats treated by antibiotic was dose dependent, down-regulated, and almost undetectable (P < .01) but up-regulated after treatment with an antibiotic plus dexamethasone (P <.01). However, the expression of brain-derived neurotrophic factor messenger RNA did not change in control rats treated with an antibiotic. Brain-derived neurotrophic factor protein showed similar changes, except it declined to normal levels 5 days after inoculation. Brain-derived neurotrophic factor messenger RNA and its production were observed in some infiltrating inflammatory cells in the brain of infected rats. The results of our studies support the hypothesis that brain-derived neurotrophic factor might play a neuroprotective role in brain damage during bacterial meningitis, and the expression of brain-derived neurotrophic factor messenger RNA and its production might be inhibited after treatment with antibiotics. The findings suggest that both eradicating the bacterial pathogen with antibiotics and adjuvant administering of brain-derived neurotrophic factor might be more beneficial to prevent brain damage. ( J Child Neurol 2003;18:828-834).
Neuropsychologic Characteristics of Children with Attention-Deficit Hyperactivity Disorder (ADHD), Learning Disorder, and Tic Disorder on the Rey-Osterreith Complex Figure
Authors: Shin Min-Sup , Kim Yong-Hee , Cho Soo-Churl , Kim Boong-Nyun
Published: January 2008

This study examined the performance of Korean children diagnosed with attention-deficit hyperactivity disorder (ADHD), learning disorder, ADHD with learning disorder, and tic disorder on the Rey-Osterreith Complex Figure. The clinical group consisted of 57 children between the ages of 6 and 13 years (15 with ADHD, 13 with learning disorder, 15 with ADHD + learning disorder, and 15 with tic disorder), and the control group included 20 children recruited from an elementary school. Rey-Osterreith Complex Figure productions were scored according to the Developmental Scoring System. The children in the control group showed a clear developmental trend—organization score increasing with age—that was similar to the performance of American children. No such age-related effect was found in the three clinical groups. The organization scores of the children with ADHD were lower than those of other groups, suggesting an organizational deficit in ADHD. Performance on the immediate recall condition was poorest in the tic disorder and ADHD + learning disorder groups, suggesting the presence of nonverbal memory problems in those groups. ( J Child Neurol 2003;18:835-844).
Neuropsychologic Differences Between Bilateral Dyskinetic and Spastic Cerebral Palsy
Authors: Pueyo Roser , Junqué Carme , Vendrell Pere
Published: January 2008

This study compared the neuropsychologic performance of 30 adolescents and adults with bilateral dyskinetic, mixed, and spastic cerebral palsy aged between 16 and 38 years. The sample was relatively homogeneous in terms of motor severity; no patients were able to walk unaided. In all subjects, we evaluated the general function of nonverbal reasoning and the following specific neuropsychologic areas: language, visual perception, memory, praxis, and frontal functions. Individuals with dyskinetic cerebral palsy had better auditory comprehension, visuospatial abilities, immediate visual memory, and working verbal memory than those with spastic cerebral palsy. Frontal function was the only cognitive function on which subjects with dyskinetic cerebral palsy had lower scores. We conclude that the neuropsychologic profiles of dyskinetic and spastic cerebral palsy are different. ( J Child Neurol 2003;18:845-850).
Progressive Dystonia in a Child With Chromosome 18p Deletion, Treated With Intrathecal Baclofen
Authors: Awaad Yasser , Munoz Sharon , Nigro Michael
Published: January 2008

We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia. ( J Child Neurol 1999;14:75-77).
Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy
Authors: Banwell Brenda L. , Becker Laurence E. , Jay Venita , Taylor Glen P. , Vajsar Jiri
Published: January 2008

Cardiac involvement has not been a reported feature of congenital fiber-type disproportion myopathy. We describe two children, aged 13 years and 1 year, respectively, who presented with serious cardiac symptomatology in conjunction with congenital fiber-type disproportion. One child developed dilated cardiomyopathy and medically intractable congestive heart failure necessitating cardiac transplantation at the age of 13 years. The second (unrelated) child developed atrial fibrillation with rapid atrioventricular conduction requiring treatment with digoxin. Skeletal muscle biopsy findings in both children showed congenital fiber-type disproportion with no evidence of a structural, dystrophic, or metabolic myopathy. Adenosine triphosphatase (ATPase) reacted sections showed type I hypotrophy with a predominance of type I fibers, confirmed by histogram analysis. Examination of the heart from patient 1 at the time of transplantation confirmed dilated cardiomyopathy with hypertrophic myocardiocytes. Although cardiomyopathy is commonly associated with other childhood myopathies, to our knowledge it has not been a feature in reported cases of congenital fiber-type disproportion. We recommend close cardiac assessment, with annual electrocardiograms, of children with congenital fiber-type disproportion. (J Child Neurol 1999; 14:83-87).
Language Disorders in Landau-Kleffner Syndrome
Authors: Kaga Makiko
Published: January 2008

In the present long-term study, we analyzed language disorders in four patients with Landau-Kleffner syndrome. Their common first symptoms were disability in understanding spoken words, followed by inarticulation and a decreased amount of speech. All patients showed auditory verbal agnosia to some degree at some stage of their illness. However, one patient showed typical sensory aphasia as the first symptom, and another patient showed nonverbal auditory agnosia followed by pure word deafness. Thus, patients with Landau-Kleffner syndrome show sequential and sometimes hierarchical language disorders beginning with sensory aphasia, followed by auditory agnosia, and finally word deafness during their disease process. During long-term follow-up (20 to 30 years), all patients showed marked recovery in language without any intellectual handicap, but with some disability in spoken language, auditory verbal perception, and a discrepancy between Wechsler Verbal and Performance IQ scores. (J Child Neurol 1999; 14:118-122).
Infantile Botulism: Pitfalls in Electrodiagnosis
Authors: Sheth Raj D. , Lotz Barend P. , Hecox Kurt E. , Waclawik Andrew J.
Published: January 2008

Botulism in infants, unless recognized early, is associated with high mortality and morbidity. The diagnosis is suspected when infants present with sudden onset of weakness, respiratory failure, and constipation and is confirmed by demonstration of botulinum toxin in stool several weeks later. Electrodiagnosis allows quick and reliable confirmation of botulism. Low-amplitude compound muscle action potentials, tetanic or post-tetanic facilitation, and the absence of post-tetanic exhaustion support the diagnosis. Two infants with confirmed botulism did not exhibit the characteristic electrodiagnostic features, demonstrating the pitfalls in electrodiagnosis of infantile botulism. (J Child Neurol 1999;14:156-158).
Vein of Galen Malformation and Infantile Spasms
Authors: Incorpora Gemma , Pavone Piero , Platania Nunzio , Trifiletti Rosario R. , Parano Enrico
Published: January 2008

Recently, there has been increasing interest in the study, characterization, and management of infantile spasms. With technological advances, it is now possible to determine a specific diagnosis on many patients with infantile spasms, thus broadening the spectrum of conditions associated with this electroclinical syndrome. We report a child with infantile spasms who also had a vascular malformation of the vein of Galen. Both clinical and electroencephalographic findings improved rapidly after endovascular treatment of the vascular anomaly, suggesting a possible association. ( J Child Neurol 1999;14:196-198).
Case Report of Fibromuscular Dysplasia Presenting as Stroke in a 16-Year-Old Boy
Authors: Puri Vinay , Riggs Garrett
Published: January 2008

Fibromuscular dysplasia of the carotid artery is uncommon, but not rare. Although the true incidence and prevalence of the disease are not known, reported figures in adults range between 0.6% by angiography and 1.1% at autopsy. Most case reports of stroke caused by carotid fibromuscular dysplasia describe findings in adult subjects, although there are a few reports of the disease in children. In the present case, we describe a 16-year-old boy with fibromuscular dysplasia confined to one internal carotid artery and its branches, and in whom the disease declared itself by stroke. This case serves as a basis for considering diagnostic methods, treatment options, and future research in pediatric patients with cerebrovascular disease caused by fibromuscular dysplasia. (J Child Neurol 1999;14:233-238).
Clinical Experience of Three Pediatric and One Adult Case of Spike-and-Wave Status Epilepticus Treated With Injectable Valproic Acid
Authors: Chez Michael G. , Hammer Michael S. , Loeffel Maurice , Nowinski Caralynn , Bagan Bradley T.
Published: January 2008

Subclinical or nonconvulsive status epilepticus may cause severe postmorbid neurologic dysfunction. It is, therefore, critical to rapidly identify and treat these cases. The recent availability of injectable valproic acid (Depacon) provides an additional method for treatment of status epilepticus, although studies concerning its effectiveness are not widely available in the literature. We report four cases (three pediatric, one adult) of patients who presented to us in status epilepticus. All had previously failed more than one other common method of treatment for this condition. Treatment with injectable valproic acid resulted in the elimination of all clinical indications of status epilepticus as well as a return to the baseline EEG condition in all four cases. Seizure types included focal, multifocal, and generalized spike and wave forms, suggesting potential benefit from injectable valproic acid treatment in a wide range of status epilepticus patients. We present these cases for review. (J Child Neurol 1999; 14:239-242).
Clinical Diversity in Acute Necrotizing Encephalopathy
Authors: Yoshikawa Hideto , Watanabe Toru , Abe Tokinari , Oda Yoshihiko
Published: January 2008

Acute necrotizing encephalopathy is a novel disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic selective and symmetric involvement of the thalamus, brain stem, and cerebellum. It usually leaves sequelae. The etiology of acute necrotizing encephalopathy is unknown. We describe here six patients aged 6 months to 5 years (four boys and two girls). Four cases were typical, and the patients' cranial computed tomographic scans and magnetic resonance imaging showed irreversible symmetric involvement of the thalamus, brain stem, and cerebellum. Three of the patients died, and one was left with severe sequelae. In the other two patients, who had selective reversible thalamic involvement, the disease was mild; one also showed transient unilateral thalamic involvement. These patients recovered completely. We consider the illness in these two patients to fit the criteria of the mild form of acute necrotizing encephalopa thy. We believe that acute necrotizing encephalopathy has some clinical diversity, as is seen in other neurologic disorders, and that a mild form could exist. (J Child Neurol 1999;14:249-255).
Stroke in Saudi Children
Authors: Al-Sulaiman Abdulsalam , Bademosi Olajide , Ismail Hassan , Magboll Gadi
Published: January 2008

This study reports the clinical features and neuroimaging correlates of stroke in Saudi children seen over a 5-year period at the King Fahd Hospital of the University, Al-Khobar, Saudi Arabia. During the study period, 31 (18 boys, 13 girls; mean age, 26.2 months) of the 20,895 children seen had stroke; the annual stroke incidence was 29.7 per 100,000 in the pediatric population. Ischemic strokes accounted for 90% and hemorrhagic 10% of the cases, respectively. The boys-to-girls ratio for ischemic stroke was 2:1. Cranial computed tomographic scans and magnetic resonance imaging findings were abnormal in 82% and 91%, respectively. The etiologic factor was undetermined in 65% of the cases. Our results suggest that stroke is uncommon in Saudi children. However, further studies evaluating a larger population in different clinical settings are required to provide a more comprehensive picture of stroke in children in this area. (J Child Neurol 1999;14:295-298).
Tics in Tourette Syndrome: New Treatment Options
Authors: Awaad Yasser
Published: January 2008

Tourette Syndrome is a familial neurobehavioral disorder characterized by fluctuating involuntary motor and/or vocal tics. The most commonly used medications to treat Tourette's syndrome are haloperidol, pimozide, fluphenazine, and clonidine, all of which may have considerable side effects. We enrolled 450 patients with tics/Tourette's syndrome to be treated with baclofen/botolinum toxin type A for their symptoms. Global severity of tic symptoms was rated by the Yale Global Tic Severity Scale and a quantified videotaped micro-structured analysis of tics. We found that baclofen/botolinum toxin type A are very effective, safe, and reliable in the treatment of tics/Tourette's syndrome. It is worthwhile considering this treatment approach in patients with tics/Tourette's syndrome in order to reduce or avoid the side effects of other medications. Further studies, however, are required. (J Child Neurol 1999 ; 14:316-319).
Expression of Transforming Growth Factor-β1 in Periventricular Leukomalacia
Authors: Shu Zhen Meng  , Takashima Sachio
Published: January 2008

The expression of transforming growth factor-β1, which has neurotrophic effects, was investigated in 25 neonates with periventricular leukomalacia using immunohistochemistry. In controls, transforming growth factor-β1 immunoreactivity was not detected in the cerebral white matter or cortex. Of the 25 cases of periventricular leukomalacia, transforming growth factor-β1 immunoreactivity was found in 16, and was distributed mainly in the cytoplasm of astrocytes, being prominent around necrotic foci in the white matter. The immunoreactivity was negative or weak at the acute stage of periventricular leukomalacia, and increased at the subacute stage and then decreased or was absent at the chronic stage. Astrocytes that were moderately or markedly positive for transforming growth factor-β1 were not found before 27 weeks' gestation, but were observed after 32 weeks' gestation in the white matter of the brains of neonates with periventricular leukomalacia. Transforming growth factor-β1 expression tended to be more obvious in focal periventricular leukomalacia than in widespread or diffuse periventricular leukomalacia. Our results suggest that transforming growth factor-β1 could be involved in the delayed glial response rather than the initial glial activation, and could play a role in the inhibition and repair of injury in periventricular leukomalacia. Exogenous transforming growth factor-β1 could have therapeutic potential for periventricular leukomalacia. ( J Child Neurol 1999;14:377-381).
Racial Differences in Free Radical Scavenging Enzyme Activity in Children
Authors: Glauser Tracy A. , Titanic-Schefft Melanie , Pippenger C.E.
Published: January 2008

Oxygen-derived free radicals play an important role in multiple pediatric neurologic diseases. Five intracellular free radical scavenging enzymes and three trace elements provide a significant portion of the body's defenses against free radical-mediated injury. Although the effects of age, sex, and ethnicity on the body's antioxidant defenses have been described, no study has examined whether racial differences exist. This pilot study sought to determine the effect of racial differences on the activity of five free radical scavenging enzymes and the concentrations of three associated trace elements in normal, healthy American children. The erythrocyte and plasma activities of five major free radical scavenging enzymes (glutathione peroxidase, glutathione reductase, glutathione-S-transferase, catalase, and superoxide dismutase) and plasma concentrations of three associated trace elements (selenium, copper, and zinc) were determined for 83 healthy American children, aged 1 to 18 years. One- and two-way interactions of race, age, and sex with each dependent variable were analyzed. African-Americans had higher erythrocyte glutathione peroxidase activity, erythrocyte superoxide dismutase activity, and selenium and copper concentrations than Caucasians. Racial inequalities do exist in free radical scavenging enzyme activity and trace element concentration in healthy children. African-American children had higher activity in the two most important free radical scavenging enzymes used by the brain compared to age- and sex-matched Caucasian children. Future clinical research in free radical-mediated pediatric neurologic diseases needs to consider race along with age and sex in both study design and data analysis. (J Child Neurol 1999;14:382-387).
Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation
Authors: Roach E.S. , DiMario Francis J. , Kandt Raymond S. , Northrup Hope
Published: January 2008

At the recent Tuberous Sclerosis Consensus Conference, a subcommittee proposed recommendations to guide the rational use of diagnostic studies in patients with tuberous sclerosis complex. Recommendations were made for diagnostic evaluation at the time of diagnosis, when testing helps both to establish the diagnosis and to identify potential complications. Additional guidelines were proposed for the ongoing surveillance of established patients to detect later complications of tuberous sclerosis complex. In the absence of comprehensive population studies to govern the use of diagnostic studies in individuals with tuberous sclerosis complex, the panel developed guidelines based on the disorder's natural history, concentrating on complications that are common, clinically significant, and more easily managed when found early. Finally, the group made suggestions for the use of diagnostic tests to identify family members who have tuberous sclerosis complex. Although these recommendations should standardize and improve our use of diagnostic studies in individuals with tuberous sclerosis complex, the clinical approach in a given patient must remain flexible enough to meet the needs of individual patients and families. (J Child Neurol 1999;14:401-407).
Patterns of Pregnancy Loss, Perinatal Mortality, and Postneonatal Childhood Deaths in Families of Girls With Rett Syndrome
Authors: Fyfe Susan , Leonard Helen , Dye Danielle , Leonard Seonaid
Published: January 2008

Rett syndrome is a neurodevelopmental disorder that occurs predominantly in girls and results in severe physical and intellectual handicap. A popular genetic mechanism is an X-linked dominant disorder, lethal in males. A case control study design was used to investigate fetal wastage as indicated by reported miscarriage and stillbirth prevalence, and the prevalence and cause of reported neonatal and other childhood deaths. There was no disturbance in the sibling sex ratio when case and control families were compared. In the parental generation and in the proband generation miscarriages were reported in similar proportions in case and control families. The reported stillbirth rates in case families was almost double that in control families and reported perinatal loss was more common on the maternal side in case families than in control families. Stillbirths and neonatal deaths affected slightly more boys in the parental and proband generations of case families (19 of 30) than in control families (10 of 21). Childhood deaths also occurred a little more commonly in Rett syndrome families. Sudden infant death syndrome was reported in three siblings of Rett syndrome probands but in no control siblings. Confirmation of this pattern of perinatal loss and infant mortality could indicate an alternative expression of the Rett syndrome gene. (J Child Neurol 1999;14:440-445).
Topical Review: Epilepsy in the First Year of Life: A Review
Authors: Kramer Uri
Published: January 2008

The prevalence of epilepsy is highest during the first year of life. Approximately 50% of patients with seizure onset between 1 and 12 months of age suffer from West syndrome. The rest have one of 12 well-delineated epilepsy syndromes, or in most cases have what are classified as generalized or partial seizures. The outcome of infants with partial seizures is significantly worse than that of patients with generalized seizures. This is true not only for symptomatic partial seizures but also for a subgroup of infants with cryptogenic partial seizures. (J Child Neurol 1999;14:485-489).