bluuebunny/crossref_metadata_2025 huggingface dataset:
Risk Factors for Arterial Ischemic Stroke in Children
Authors: Kirkham Fenella J. , Prengler Mara , Hewes Deborah K.M. , Ganesan Vijeya
Published: January 2008

Since early recurrence occurs in at least 10% of patients presenting with their first stroke in childhood in the reported series, the search for modifiable risk factors should be a priority. Risk factors for stroke in adults include hypertension, diabetes, and smoking, as well as cardiac disease and sickle cell anemia; asymptomatic cerebrovascular disease and transient ischemic events may predict stroke in this age group. The investigation of a child with a stroke has traditionally focused on finding a single cause rather than looking for risk factors to which the patient may be exposed life long. Approximately half of children presenting with stroke have a known predisposing condition, but some have unexpected pathologies such as primary cerebrovascular disease associated with congenital heart anomalies, or may have modifiable risk factors such as hypertension associated with sickle cell disease. The literature on children presenting with initially unexplained (cryptogenic) stroke suggests that there is a daunting list of possible causes, but since the series have mainly been small, it has been difficult to evaluate the relative importance of the reported associations. This paper reviews the literature on congenital, genetic, and acquired risk factors for stroke in childhood, and includes data from the large series of patients seen at Great Ormond Street Hospital over the past 10 years. The majority have arteriographic abnormalities and there is little evidence for asymptomatic cardiac disease. Genetic predisposition, trauma, infection, and nutritional deficiencies appear to be important, although case-control studies will be required to prove causation. Appropriate screening for modifiable risk factors may lead to prevention of recurrence in some patients. In the long term, an understanding of the multiple etiologies of childhood cerebrovascular disease and ischemic stroke may lead to primary prevention in this age group, and perhaps in adults. ( J Child Neurol 2000;15:299-307).
Intelligence After Stroke in Childhood: Review of the Literature and Suggestions for Future Research
Authors: Hogan Alexandra M. , Kirkham Fenella J. , Isaacs Elizabeth B.
Published: January 2008

Review of published clinical and neuropsychologic outcome studies reveals limited information about intellectual functioning after childhood stroke. The extant data are supplemented here by analysis of intelligence quotient (IQ) results obtained from 38 children in an ongoing study of unilateral middle cerebral artery ischemic stroke. Evidence so far indicates that, after stroke, mean IQ falls significantly below the population mean but remains within the average range. There is no significant difference between hemispheric side of injury; the Verbal and Performance IQ lateralization profile widely recognized in adults with unilateral injury is not apparent in younger children, and there is only a trend toward this profile in older children. The effects of a number of other variables, including sex, site of stroke, and longitudinal assessment, are also considered. Although the generally minor effect of stroke on IQ is encouraging, a number of children do require extra help on return to school. Some suggestions for future research are highlighted in order to encourage further consideration of the issues raised here. ( J Child Neurol 2000;15:325-332).
Lessons From the Stroke Prevention Trial in Sickle Cell Anemia (STOP) Study
Authors: Adams Robert J.
Published: January 2008

Stroke is generally uncommon in children, but sickle cell disease is associated with a high risk of stroke in the early years of childhood. Large cerebral arteries, especially the middle cerebral and intracranial internal carotid, develop stenosis that predisposes to ischemic stroke. Noninvasive prediction of risk using transcranial Doppler ultrasonography made it possible to test primary stroke prevention in a clinical trial comparing chronic blood transfusion with standard care. A consortium of 14 clinical centers conducted a randomized clinical trial (Stroke Prevention in Sickle Cell Anemia—the "STOP" study) to test a strategy to prevent first stroke in children with sickle cell disease. Over 2000 children were screened with transcranial Doppler ultrasonography and of these, 130 with elevated blood velocity indicating high risk were enrolled in the trial. Regular red cell transfusions sufficient to reduce the percentage of Hb S gene product from over 90 to less than 30 of total hemoglobin was associated with a marked reduction in stroke. The untreated risk of 10% per year was reduced over 90% with treatment, an effect sufficient to cause early termination of the trial. Although treatment was unblinded, the design included blinded adjudication of possible stroke by a panel of neurologists remote from the study sites. The study led to a Clinical Alert, issued by the National Heart, Lung, and Blood Institute, recommending screening and consideration of treatment in children with sickle cell disease and 2 to 16 years of age who are at risk based on transcranial Doppler ultrasonography, and who have not had stroke. ( J Child Neurol 2000;15:344-349).
Rational Approach to Treatment of Moyamoya Disease in Childhood
Authors: Ikezaki Kiyonobu
Published: January 2008

Early diagnosis and treatment of moyamoya disease in children is essential to minimize residual mental and physiologic deficits. Current treatment of childhood moyamoya disease in Japan, preoperative evaluation of perfusion reserve as a surgical indication, and the role of noninvasive follow-up by magnetic resonance angiography are reported. Approximately 20% of children with definite moyamoya disease were observed or treated medically. Among surgical procedures, single indirect bypass surgery was used in approximately 30% of all patients; combinations of direct and indirect bypass surgery, 20%; and multiple-indirect bypass surgery, 18%. Both adequate understanding of the primary condition and determination of optimal treatment, including specific operative procedures, required evaluation of cerebral circulation and metabolism. Surgical indications included reduced perfusion reserve in affected brain by positron emission tomography or single photon emission tomography with administration of acetazolamide or a CO 2 load. Postoperative improvements of cerebral perfusion reserve show better correlation with disappearance of ischemic attacks than does angiographically demonstrated collateral formation. Follow-up evaluation with magnetic resonance angiography has advantages over conventional angiography because it is noninvasive and avoids general anesthesia. ( J Child Neurol 2000;15:350-356).
Roles of Glutamate Transporter and Receptors, Poly (ADPribose) Polymerase, and Transforming Growth Factor-β1 in Pontosubicular Neuron Necrosis
Authors: Shu Zhen Meng  , Itoh Masayuki , Obonai Toshimasa , Takashima Sachio
Published: January 2008

The expression of neuron-type glutamate transporters (EAAC-1), AMPA glutamate receptor subunits (GluR1 and GluR2/3), polyadenosine (5'diphosphate-ribose) polymerase (PARP), and transforming growth factor-β1 was investigated in 20 cases of neonatal pontosubicular neuron necrosis and 12 gestational-age matched controls. Developmental immunoreactivities of EAAC-1, GluR1, and GluR2/3 appeared in the neurons of the pontine nuclei at 29 to 30 weeks' gestation in controls, and then gradually increased with age. However, these activities were decreased in the pontine nucleus of patients with pontosubicular neuron necrosis. Decreases in these immunoreactivities might indicate early degeneration of neurons. Although PARP and transforming growth factor-β1 immunoreactivity was insignificant or very weak in the pontine nuclei at any age in controls, PARP was markedly expressed in karyorrhectic neurons of the pontine nucleus in patients with pontosubicular neuron necrosis. Transforming growth factor-β1 immunoreactivity was observed in nonkaryorrhectic neurons of the pontine nuclei. PARP could contribute to the pathogenesis of pontosubicular neuron necrosis more than EAAC-1 or GluR1 or GluR2/3. Transforming growth factor-β1 could play a role in the protection and repair of damaged neurons. ( J Child Neurol 2000;15:362-369).
The Syndrome of Inv Dup (15): Clinical, Electroencephalographic, and Imaging Findings
Authors: Buoni Sabrina , Sorrentino Livio , Farnetani Maria Angela , Pucci Lucia , Fois Alberto
Published: January 2008

The clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures. Two additional adults with inv dup (15) from other institutions were also diagnosed in our laboratory. Seizures and mental retardation were the reasons for their referral. The clinical picture of inv dup (15) seems to be quite variable since the phenotype can also be normal. However, karyotyping and fluorescent in-situ hybridization, focused in particular on chromosome 15, appear to be indicated in patients with dysmorphic phenotypes, such as the one present in our patients, and in subjects with early-onset seizures and psychomotor retardation with autistic features. ( J Child Neurol 2000;15:380-385).
Familial Mitochondrial Intestinal Pseudo-Obstruction and Neurogenic Bladder
Authors: Haftel Lior T. , Lev Dorit , Barash Varda , Gutman Aliza , Bujanover Yoram , Lerman-Sagie Tally
Published: January 2008

Intestinal dysmotility and neurogenic bladder have been described as part of two autosomal-recessive mitochondrial disorders assumed to be due to a defect in communication between the nuclear and mitochondrial genomes: myoneurogastrointestinal encephalopathy (MNGIE) and diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome). Partial cytochrome c oxidase deficiency has been described in both. We describe three Ashkenazi Jewish siblings with progressive intestinal dysmotility, neurogenic bladder, and autonomic manifestations but no central nervous system involvement. Cytochrome c oxidase deficiency was demonstrated in peripheral and multiple intestinal muscle biopsies. Mitochondrial DNA analysis of an intestinal biopsy of patient 1 showed heteroplasmy consisting of a normal 16.5-kb band and an approximately 28-kb band, suggestive of a duplication. Mitochondrial DNA analysis of a muscle biopsy of patient 2 showed multiple deletions, mainly 10- and 11-kb bands. We suggest that this unique combination of intestinal pseudo-obstruction and neurogenic bladder could comprise a new autosomal-recessive mitochondrial disorder. ( J Child Neurol 2000;15:386-389).
Agenesis of Corpus Callosum: Clinical Description and Etiology
Authors: Marszal Elzbieta , Jamroz Ewa , Pilch Jacek , Kluczewska Ewa , Jablecka-Deja Halina , Krawczyk Robert
Published: January 2008

In 135 children (aged 3 months to 15 years) with structural defects of the central nervous system found on magnetic resonance imaging, agenesis of the corpus callosum was evident in 7. The etiology of agenesis of the corpus callosum has been established in four children: partial trisomy of chromosome 13, partial duplication of the long arm of chromosome 10, Aicardi's syndrome, and intracranial bleeding during the fetal period as a result of injury. Agenesis of the corpus callosum coexisted with a Dandy-Walker malformation in one other patient, which suggests a genetic etiology. In spite of these variable etiologies, dysmorphic features were identified in all seven patients, as was psychomotor retardation. Epileptic seizures had occurred in six patients, and all manifested abnormalities on neurologic examination. ( J Child Neurol 2000;15:401-405).
Heterotopic Ossification in Childhood and Adolescence
Authors: Kluger Gerhard , Kochs Andreas , Holthausen Hans
Published: January 2008

Heterotopic ossification, or myositis ossificans, denotes true bone in an abnormal place. The pathogenic mechanism is still unclear. A total of 643 patients (mean age, 9.1 years) admitted for neuropediatric rehabilitation were analyzed retrospectively with respect to the existence of neurogenic heterotopic ossification. The purpose of this study was to obtain information about incidence, etiology, clinical aspect, and consequences for diagnosis and therapy of this condition in childhood and adolescence. Heterotopic ossification was diagnosed in 32 patients (mean age, 14.8 years) with average time of onset of 4 months after traumatic brain injury, near drowning, strangulation, cerebral hemorrhage, hydrocephalus, or spinal cord injury. The sex ratio was not significant. In contrast to what has been found in adult studies, serum alkaline phosphatase was not elevated during heterotopic ossification formation. A persistent vegetative state for longer than 30 days proved to be a significant risk factor for heterotopic ossification. The incidence of neurogenic heterotopic ossification in children seems to be lower than in adults. A genetic predisposition to heterotopic ossification is suspected but not proven. As a prophylactic regimen against heterotopic ossification we use salicylates for those patients in a coma or persistent vegetative state with warm and painful swelling of a joint and consider continuous intrathecal baclofen infusion and botulinum toxin injection for those patients with severe spasticity. We prefer to wait at least 1 year after trauma before excision of heterotopic ossification. ( J Child Neurol 2000;15:406-413).
Utility of Early Single Photon Emission Computed Tomography (SPECT) in Neonatal Gelastic Epilepsy Associated With Hypothalamic Hamartoma
Authors: DiFazio Marc P. , Davis Ronald G.
Published: January 2008

Gelastic epilepsy, or laughing seizures, is a rare seizure manifestation often associated with hypothalamic hamartoma. This seizure type is well described in older children and adults, but has only rarely been reported in neonates, oftentimes recognized in retrospect when the children are older. We report a child diagnosed at 3 months of age with a large hypothalamic mass after evaluation for spells occurring since birth. The spells were characterized by bursts of hyperpnea, followed by repeated "cooing" respirations, giggling, and smiling. These spells were recognized soon after birth in the delivery room, and occurred at 15-20 minute intervals. They did not interrupt feeding and occurred during sleep. On referral to our center, the patient was noted to be thriving, with normal medical and neurologic examinations except for his spells. The laboratory evaluation was normal, as were endocrine and ophthalmologic evaluations. Neuroimaging was performed, with magnetic resonance imaging demonstrating a large 2.8-cm isodense, nonenhancing hypothalamic mass. Electroencephalogram was abnormal, demonstrating bi-frontal sharp and spike-wave discharges. Video-EEG did not demonstrate ictal discharges associated with the patient's spells. Single photon emission computed tomography (SPECT) demonstrated dramatic ictal uptake in the area of the tumor, with normalization during the interictal phase. Partial excision of hamartomatous tissue has minimally improved the spells. In conclusion, this patient manifested an unusual, early presentation of a rare seizure type. SPECT scanning confirmed the intrinsic epileptogenesis of the hamartoma, further justifying a surgical approach to such patients. Early surgical intervention is probably indicated in an attempt to minimize or prevent the cognitive and behavioral sequelae commonly seen with this seizure type. ( J Child Neurol 2000;15:414-417).
Common Peroneal Neuropathy due to Surfing
Authors: Watemberg Nathan , Amsel Shlomo , Sadeh Menachem , Lerman-Sagie Tally
Published: January 2008

Common peroneal neuropathy is uncommon in children and adolescents. In this population, it is usually caused by direct nerve injury at the fibular head level. Most commonly, the nerve is damaged during sports-related blunt trauma. Other etiologies such as hereditary neuropathies and bone tumors are much less frequent. In some cases, repetitive microtrauma to the peroneal nerve is felt to cause neuropathy. We describe the case of a teenager who developed common peroneal neuropathy in association with prolonged wave-surfing in the presence of weight loss. ( J Child Neurol 2000;15:420-421)
Current Therapy for West Syndrome in Japan
Authors: Ito Masatoshi , Seki Tohru , Takuma Yuichi
Published: January 2008

We sent questionnaires concerning the current therapy for West syndrome to 208 institutions at which pediatric care members of the Japan Epilepsy Society were working. Of these, 129 (62%) institutions responded. Vitamin B6 was the preferred first-line drug, followed by the combination of vitamin B6 and valproate or mono-therapy with valproate. Corticotropin was the third choice among the drugs. The dosage of corticotropin was lower than previously reported. The treatment of West syndrome is not well established at present and further research is needed to improve the therapeutic protocol. ( J Child Neurol 2000; 15:424-428).
Short-Term Benefit From Oral Vancomycin Treatment of Regressive-Onset Autism
Authors: Sandler Richard H. , Finegold Sydney M. , Bolte Ellen R. , Buchanan Cathleen P. , Maxwell Anne P. , Väisänen Marja-Liisa , Nelson Michael N. , Wexler Hannah M.
Published: January 2008

In most cases symptoms of autism begin in early infancy. However, a subset of children appears to develop normally until a clear deterioration is observed. Many parents of children with "regressive"-onset autism have noted antecedent antibiotic exposure followed by chronic diarrhea. We speculated that, in a subgroup of children, disruption of indigenous gut flora might promote colonization by one or more neurotoxin-producing bacteria, contributing, at least in part, to their autistic symptomatology. To help test this hypothesis, 11 children with regressive-onset autism were recruited for an intervention trial using a minimally absorbed oral antibiotic. Entry criteria included antecedent broad-spectrum antimicrobial exposure followed by chronic persistent diarrhea, deterioration of previously acquired skills, and then autistic features. Short-term improvement was noted using multiple pre- and post-therapy evaluations. These included coded, paired videotapes scored by a clinical psychologist blinded to treatment status; these noted improvement in 8 of 10 children studied. Unfortunately, these gains had largely waned at follow-up. Although the protocol used is not suggested as useful therapy, these results indicate that a possible gut flora-brain connection warrants further investigation, as it might lead to greater pathophysiologic insight and meaningful prevention or treatment in a subset of children with autism. (J Child Neurol 2000;15:429-435).
Growth Patterns Among Infants With Language Deficits: A Case-Control Study
Authors: Davidovitch Michael , Bennet Odaya , Jaffe Michael , Tirosh Emanuel , Cohen Ayala
Published: January 2008

We compared growth parameters in infants with language delay to those in children with global delay and to typical controls. Thirty infants with expressive language delay and 36 with combined expressive and receptive language delay were compared with 27 infants with general development delay and with 124 controls. Data on weight, height, head circumference, and feeding behavior were obtained from birth up to age 78 weeks, and converted to percentiles. Medical and sociodemographic data were also evaluated. The weight curves in the combined expressive and receptive language delay group were significantly lower than in the comparison groups, but no cases of failure to thrive were noted. Height and head circumference curves in the combined expressive and receptive language delay group were also lower than in the typical controls. Infants with combined expressive and receptive language delay were lighter and shorter than controls. However, none of the parameters were more than two standard deviations below the mean. It is possible that this finding is of constitutional origin. (J Child Neurol 2000;15:440-444).
Mitochondrial Respiratory-Chain Defects Presenting as Nonspecific Features in Children
Authors: Tsao Chang Y. , Mendell Jerry R. , Lo Warren D. , Luquette Mark , Rusin Jerome
Published: January 2008

Patients with mitochondrial respiratory-chain defects frequently exhibit lactic acidosis, ragged red fibers in skeletal muscle samples, and abnormal enzyme assays for the respiratory-chain complex. However, ragged red fibers and lactic acidosis are not always seen in all patients with mitochondrial respiratory-chain defects. We have encountered six children with biochemically proven respiratory chain defects, but typical ragged red fibers were not found in all six patients, and only five patients had increased serum lactate levels. Initially, they present with nonspecific features. However, persistent or progressive clinical features or multiple organ involvement eventually led to the diagnosis of respiratory-chain defects in these patients. Mitochondrial respiratory-chain defects should be considered in the differential diagnosis when persistent, progressive features and especially multiple organ involvement occur. (J Child Neurol 2000;15:445-448).
Evidence That Alpers-Huttenlocher Syndrome Could Be a Mitochondrial Disease
Authors: Rasmussen Magnhild , Sanengen Truls , Skullerud Kari , Kvittingen Eli Anne , Skjeldal Ola H.
Published: January 2008

We report an 11-year-old boy with a slight developmental delay and epilepsy. After he was placed on valproate, he developed hepatic failure and increasing neurologic symptoms, including epilepsia partialis continua, and died. Autopsy findings in liver and cerebrum were consistent with progressive neuronal degeneration of childhood with liver disease, also called Alpers-Huttenlocher syndrome. Ragged red fibers and cytochrome c oxidase negative fibers were present in muscle. These results suggest that Alpers-Huttenlocher syndrome, at least in some patients, is a mitochondrial disease. (J Child Neurol 2000; 15:473-477).
Weinberg's Syndrome: A Disorder of Attention and Behavior Problems Needing Further Research
Authors: Brumback Roger A.
Published: January 2008

A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yawning and stretching, talkativeness) and complaints of tiredness. During tasks requiring concentration (continuous mental activity) such as reading, children with Weinberg's syndrome will daydream, lose interest, complain of boredom, and become increasingly restless. Napping, while infrequent, usually is not refreshing. A distinct personality described by family members and friends as kind, affectionate, compassionate, or "angelic" also seems to characterize this condition. Weinberg's syndrome has a familial pattern suggesting autosomal-dominant inheritance. Additional neurophysiologic, pharmacotherapeutic, epidemiologic, and genetic studies will be necessary for a full understanding of Weinberg's syndrome. (J Child Neurol 2000;15:478-480).
Subacute Central Nervous System Degeneration in a Child: An Unusual Manifestation of Ifosfamide Intoxication
Authors: Shuper Avinoam , Stein Jeremiah , Goshen Jacob , Kornreich Liora , Yaniv Izhak , Cohen Ian J. , Tiqva Petah
Published: January 2008

A 5-year-old child with desmoplastic small round-cell tumor was treated with a protocol of very-high-dose, short-term chemotherapy, containing HD-CAV (cyclophosphamide, doxorubicin, vincristine, and mesna), ifosfamide, and etoposide. Two days after the initiation of ifosfamide, he exhibited new-onset lethal encephalopathy manifested by subacutely progressive cerebellar and then temporal and frontocortical degeneration leading to a vegetative state and eventually to death. A full work-up, including brain biopsy, was negative, excluding infections and metabolic or vascular causes. Ifosfamide is known to be capable of causing acute encephalopathy that can be severe but is generally reversible. This child showed a very atypical progressive, lethal course of ifosfamide toxicity. The possibility of this complication should be considered when high-dose ifosfamide treatment is planned for children. (J Child Neurol 2000;15:481-483).
D-2-Hydroxyglutaric Aciduria With Cerebral, Vascular, and Muscular Abnormalities in a 14-Year-Old Boy
Authors: Eeg-Olofsson Orvar , Wei Wei Zhang  , Olsson Yngve , Jagell Sten , Hagenfeldt Lars
Published: January 2008

D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. Cardiomegaly with aortic insufficiency was diagnosed. Magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. Autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process. (J Child Neurol 2000;15:488-492).
Vagus Nerve Stimulation Treatment for Lennox-Gastaut Syndrome
Authors: Hosain Syed , Nikalov Bill , Harden Cynthia , Li Mark , Fraser Richard , Labar Douglas
Published: January 2008

Lennox-Gastaut syndrome is a severe age-specific epilepsy syndrome that presents with medication-resistant seizures in childhood. Antiepileptic drugs are the mainstay of treatment. Nonpharmacologic treatments include corpus callosum section and the ketogenic diet. However, no single treatment is safe and effective. We treated 13 patients with Lennox-Gastaut syndrome between the ages of 4 and 44 years (mean, 16.7 years) with vagus nerve stimulation. During the first 6 months of treatment, vagus nerve stimulation produced a median seizure rate reduction of 52% (range, 0% to 93%; P = .04). At 6 months of follow-up, three patients had a greater than 90% reduction in seizures, two had a greater than 75% reduction, one had a greater than 50% reduction, and six had at least a 25% reduction. One patient did not improve. No patient worsened after initial improvement. Side effects, including hoarseness, coughing, and pain in the throat, were transient and tolerable. No patient discontinued vagus nerve stimulation. Our results suggest that vagus nerve stimulation could be an effective and safe adjunct therapy for the treatment of Lennox-Gastaut syndrome. ( J Child Neurol 2000;15:509-512).
Three Children With a Syndrome of Obesity and Overgrowth, Atypical Psychosis, and Seizures: A Problem in Neuropsychopharmacology
Authors: Jobe Anna , Lewis Darrell , Wainwright Mark , DeLong G. Robert
Published: January 2008

Three children presented with a complex syndrome of atypical psychotic and extremely immature behavior, obesity and overgrowth, borderline retardation, and seizures (prominent in two). Weight overgrowth exceeded height overgrowth and was stratospheric (up to 8 SD above mean). Obesity seemed related to lack of satiety. The cases fit no known condition: hypothalamic damage, Sotos' syndrome, and Prader-Willi syndrome were excluded. Empirical treatment with anticonvulsants (carbamazepine and acetazolamide) together with psychotropic agents (selective serotonin reuptake inhibitors and risperidone) controlled seizures, improved behavior, and stopped weight gain in each patient. We have not found this syndrome previously described. The etiology is unknown: perinatal encephalopathy could be a factor in the two patients with prominent seizures; in the third, familial major affective disorder is implicated. Medication responses suggest a low-serotonin state underlying the lack of satiety, an imbalance of serotonin and noradrenergic modulation in the hypothalamus, and epileptogenic disorders (or affective disorder responsive to anticonvulsants in one case) involving these same systems. (J Child Neurol 2000;15:518-528).
Abnormal Sudomotor Function in the Hypomelanotic Macules of Tuberous Sclerosis Complex
Authors: Chudnow Robert S. , Wolfe Gil I. , Sparagana Steven P. , Delgado Mauricio R. , Batchelor Lori , Roach E. Steve
Published: January 2008

To investigate the integrity of sympathetic innervation in the hypomelanotic macules of tuberous sclerosis complex, we studied sudomotor function in nine patients with tuberous sclerosis complex. Postganglionic sudomotor function was assessed using the Silastic imprint test in nine patients with tuberous sclerosis complex who have at least one hypomelanotic macule greater than 2 cm in diameter. Sweating was induced by iontophoresis with 0.5% pilocarpine nitrate and sweat droplets were counted under a microscope using a 1 X 1 cm grid. Silastic imprint testing of an analogous skin area contralateral to the hypomelanotic macule was measured as a control. Sweat volume quantitation using sweat collectors was performed in five of the subjects. The sweat volume collected from the hypomelanotic macule was reduced compared to the control skin in four of the five subjects. Sweat droplet counts from the hypomelanotic macule were significantly reduced in only one of nine subjects. These data suggest that, although there is no difference in the number of functioning sweat glands in most hypomelanotic macules, the sweat glands produce less sweat (ie, decreased sweat volume) than in normal skin. We hypothesize that focal abnormalities of sympathetic innervation might be responsible for the hypomelanotic macules of tuberous sclerosis complex. (J Child Neurol 2000; 15:529-532).
Preschoolers Classified as Having Attention-Deficit Hyperactivity Disorder (ADHD): DSM-IV Symptom Endorsement Pattern
Authors: Byrne Joseph M. , Bawden Harry N. , Beattie Tricia L. , DeWolfe Nadine A.
Published: January 2008

In the present study, 50 preschoolers were formally and independently classified using both the Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) and third edition-revised (DSM-III-R) criteria for attention-deficit hyperactivity disorder (ADHD). The sample consisted of 25 preschoolers classified as having ADHD and 25 typically developing preschoolers for comparison; the sample was matched on gender, age, and socioeconomic status. All 50 preschoolers were without neurologic or neurodevelopmental disorders, oppositional defiant disorder, or language delay. There were four key findings: first, of the 25 preschoolers with ADHD, DSM-IV classification was as follows: hyperactive-impulsivity type (68%), combined type (28%), and inattentive type (4%). Second, the DSM-IV profiles showed that several symptoms were either infrequently endorsed by parents, reflecting limited applicability to preschoolers with ADHD, or frequently endorsed by parents of typically developing preschoolers, thus reducing their diagnostic value. Third, of the 25 preschoolers classified as having ADHD using DSM-IV criteria, 16% would not have been classified as having ADHD using the DSM-III-R criteria. The DSM-IV criteria therefore appear to be more lenient than the DSM-III-R criteria for this age group. Fourth, two symptoms that were not included in the DSM-IV, but were part of the DSM-III-R, were found to have clinical value for differentiating preschoolers with ADHD from their typically developing peers. ( J Child Neurol 2000;15:533-538).
Dengue Infection Presenting With Central Nervous System Manifestation
Authors: Kankirawatana Pongkiat , Chokephaibulkit Kulkanya , Puthavathana Pilaipan , Yoksan Sutee , Apintanapong Somchai , Pongthapisit Viroj
Published: January 2008

The objective of this study was to investigate the possibility of dengue virus infection causing an abnormal neurologic presentation. Between 1996 and 1998, all pediatric patients with clinical manifestations of encephalitis-like illness who were admitted to the Department of Pediatrics, Siriraj Hospital were prospectively studied for any evidence of dengue virus infection. The diagnosis of dengue virus infection was based on mosquito viral isolation and serologic and polymerase chain reaction (PCR) evidence. Of 44 patients with the preliminary diagnosis of acute viral encephalitis, 8 were diagnosed with dengue infection. All of these 8 patients were diagnosed by serology. In addition to the serologic diagnosis, four also had positive PCR, one had positive viral isolation, and one had both positive PCR and viral isolation. Only two patients were diagnosed by serologic evidence alone. All except one had clinical courses and laboratory findings compatible with typical dengue infection. All had obvious encephalitic clinical manifestations with normal cerebrospinal fluid findings except one patient, who had mildly increased cerebrospinal fluid protein. All of these patients recovered completely and had benign clinical courses except one patient, who developed leakage symptoms. None had liver failure. Dengue virus can cause acute encephalopathy with fever. It can masquerade as other types of acute viral encephalitis. However, its clinical course and prognosis are usually favorable ( J Child Neurol 2000; 15:544-547).
Kearns-Sayre Syndrome With a Novel Mitochondrial DNA Deletion
Authors: Marin-Garcia Jose , Goldenthal Michael J. , Sarnat Harvey B.
Published: January 2008

We describe a 17-year-old boy with a clinical neurologic picture consistent with Kearns-Sayre syndrome. His manifestations included progressive external ophthalmoplegia, bilateral ptosis, retinitis pigmentosa, and muscle weakness. He was found to harbor an abundant novel deletion in skeletal muscle mitochondrial DNA. Biochemical analysis of the patient's biopsied skeletal muscle showed that the specific activities of all four respiratory complexes with mitochondrial DNA-encoded subunits were markedly reduced in contrast to normal activity levels of entirely nuclear DNA-encoded enzyme activities (eg, complex II and citrate synthase). Ultrastructural analysis also indicated the presence of strikingly abnormal mitochondria with both unusual cristae and frequent paracrystalline inclusions. The great amount of the deleted mitochondrial DNA in this patient's muscle, as well as the concomitant reduction in specific respiratory complex activity, suggests that the mitochondrial DNA deletion plays a role in the pathogenesis of this neurologic disease. ( J Child Neurol 2000;15:555-558).
Topical Review: Progress in Desmin-Related Myopathies
Authors: Goebel Hans H. , Warlo Irene A.P
Published: January 2008

Desmin-related myopathies are sporadic and familial neuromuscular conditions of considerable clinical heterogeneity uniformly marked by the pathologic accretion of desmin, often in a filamentous fashion. A large variety of other proteins, some of them cytoskeletal, also accrue. Morphologically, two types may be distinguished, one characterized by inclusions such as cytoplasmic and spheroid bodies or desmin-dystrophin plaques and another marked by granulofilamentous material. The genetic spectrum of desmin-related myopathies is quite diverse in that missense mutations and deletions in the desmin gene and a missense mutation in the α-B crystallin gene have been detected and several genes on other chromosomes have been mapped; the encoded protein products of these genes, however, are unknown. Accumulation of desmin and other proteins appears to be due to impaired nonlysosomal proteolysis. Mutant desmin that appears to be hyperphosphorylated seems to act as a seed protein for filament aggregation, inducing formation of inclusions and granulofilamentous material in these conditions. This condition is part of the group of disorders known as "surplus protein myopathies." (J Child Neurol 2000;15:565-572).
Possible Mechanisms in Infants for Selective Basal Ganglia Damage From Asphyxia, Kernicterus, or Mitochondrial Encephalopathies
Authors: Johnston Michael V. , Hoon Alexander H.
Published: January 2008

Magnetic resonance imaging and neuropathologic studies have demonstrated remarkably selective patterns of injury to subregions of the basal ganglia in children. Examples are kernicterus and certain mitochondrial encephalopathies, which cause selective injury to the globus pallidus, and near-total perinatal asphyxia, which causes lesions in the putamen and thalamus. To explain the differential vulnerability of nuclei within millimeters of each other, we hypothesize that their locations within the neurotransmitter-specific circuitry of the basal ganglia motor loop are important. In severe hypoxic-ischemic encephalopathy, excitatory glutamatergic pathways into the putamen and thalamus are overactive, but the globus pallidus might be protected because its activity is silenced by inhibitory neuronal activity. In contrast, the relatively high resting neuronal activity in the globus pallidus might make it more vulnerable to less intense, subacute oxidative stresses from mitochondrial toxins such as bilirubin or from genetic mitochondrial disorders. This hypothesis has implications for designing neuroprotective therapies and for treating associated chronic movement disorders. (J Child Neurol 2000;15:588-591).
Diffusion-Weighted Imaging in Neonatal Cerebral Infarction: Clinical Utility and Follow-Up
Authors: Krishnamoorthy Kalpathy S. , Soman Teesta B. , Takeoka Masanori , Schaefer Pamela W.
Published: January 2008

We describe the clinical utility of echo-planar diffusion-weighted imaging in neonatal cerebral infarction. Eight full-term neonates aged 1 to 8 days referred for neonatal seizures were studied. Patients were followed for a mean of 17 months with detailed neurologic examinations at regular intervals. Head computed tomography (CT) and conventional magnetic resonance (MRI) and diffusion-weighted images were obtained. Percent lesion contrast was evaluated for 19 lesions on T 2-weighted and diffusion-weighted images. Follow-up conventional MRIs were obtained in seven patients. The findings on diffusion-weighted imaging were correlated with CT and conventional MRI findings as well as with short-term neuro-developmental outcome. Four patients had focal cerebral infarctions. Four patients had diffuse injury consistent with hypoxic-ischemic encephalopathy. Percent lesion contrast of all 19 lesions was significantly higher on diffusion-weighted images when compared with T2-weighted images. In five patients, there were lesions visualized only with diffusion-weighted imaging. In all patients, there was increased lesion conspicuity and better definition of lesion extent on the diffusion-weighted images compared with the CT and T 2-weighted MR images. In seven of eight patients follow-up imaging confirmed prior infarctions. Short-term neurologic outcome correlated with the extent of injury seen on the initial diffusion-weighted imaging scans for all patients. Diffusion-weighted imaging is useful in the evaluation of acute ischemic brain injury and seizure etiology in neonates. In the acute setting, diffusion-weighted imaging provides information not available on CT and conventional MRI. This information correlates with short-term clinical outcome. (J Child Neurol 2000;15:592-602).
Usefulness of Diagnostic Criteria of Tuberous Sclerosis Complex in Pediatric Patients
Authors: Józwiak Sergiusz , Schwartz Robert A. , Janniger Camila Krysicka , Bielicka-Cymerman Jolanta
Published: January 2008

The Tuberous Sclerosis Complex 1998 Consensus Conference clinical criteria represent an important advance in the diagnosis of tuberous sclerosis complex. Since many findings regarded as highly specific for tuberous sclerosis complex are not apparent until late childhood or adulthood, refinements by age may prove of value. We have stratified 106 children into five age groups (0 to 2 years of age, above 2 to 5 years, above 5 to 9 years, above 9 to 14 years, and above 14 to 18 years). Physicians should be alerted as to the frequency of the criteria in different stages of children. (J Child Neurol 2000;15:652-659).
Add-On Lamotrigine Treatment in Children and Young Adults With Severe Partial Epilepsy: An Open, Prospective, Long-Term Study
Authors: Parmeggiani Lucio , Belmonte Anna , Rita Ferrari Anna , Perucca Emilio , Guerrini Renzo
Published: January 2008

We evaluated the efficacy and safety of lamotrigine in 41 children and young adults (age range, 3-25 years; mean, 12 years) with drug-resistant, partial epilepsies, based on a prospective, add-on study Patients had severe symptomatic/cryptogenic partial epilepsies (mean seizure frequency = 3.6/day), resistant to one to four major antiepileptic drugs. Mean seizure frequency significantly decreased (P < .001) throughout the period of treatment. A good response (>50% seizure reduction) was observed in 15 patients of whom 6 were seizure-free (follow-up: 12-48 months). Higher responder rate was found among cryptogenic epilepsies and epilepsies symptomatic of cerebral malformation, whereas patients with posthypoxicischemic perinatal damage were poor responders. Lamotrigine discontinuation was mainly due to lack of efficacy (46% of patients), whereas only 2 patients developed a transient skin rash and did not drop out. Lamotrigine represents a valuable treatment for severe partial epilepsies of childhood that have proved resistant to previous antiepileptic drugs. (J Child Neurol 2000;15:671-674).
Vertebral Artery Dissection and Migraine Headaches in Children
Authors: Lotze Timothy E. , Paolicchi Juliann
Published: January 2008

Strokes of the posterior circulation are uncommon in childhood. In vertebrobasilar insults, vertebral artery dissection remains a rare diagnosis. We report the case of an 8-year-old boy with a history of migraine headaches who presented with acute cerebellar signs and agitation following multiple infarctions of bilateral cerebellar hemispheres. Vertebral angiography demonstrated dissection of the left vertebral artery with occlusion of the basilar artery just distal to its origin. Risk factors for vertebral artery dissection are reviewed, with emphasis on association with migraine headaches. A review of imaging studies for the diagnosis of dissection is also presented. This case demonstrates the importance of considering arterial wall dissection in pediatric patients with a history of atypical migraines associated with new neurologic findings. (J Child Neurol 2000;15:694-696).
Severe Migraine Associated With Coarctation of Aorta: Complete Recovery Following Balloon Dilation
Authors: Shahar Eli , Borenstein Annette , Filk Dan
Published: January 2008

We report on a rare association of severe migraine headaches associated with coarctation of aorta that completely resolved following dilation of the constricted aorta. A 6-year-old girl presented with severe pounding headaches accompanied with recurrent vomiting, associated with photophobia and phonophobia. She experienced frequent awakenings with severe headaches and vomiting. The described excruciating, prolonged, and practically persistent headaches were not relieved by analgesics and ergotamines. Neurologic assessment and brain computed tomography were both normal. A systolic murmur at the third right intercostal space prompted a cardiac echocardiogram, which demonstrated coarctation of the ascending aorta beyond the orifice of the left common carotid artery. Catheterization revealed a systolic gradient of 54 mm Hg, and the constricted lumen of the aorta was then dilated by a balloon. The excruciating vascular headaches and associated symptoms had abated instantaneously following this procedure. To the best of our knowledge, this is the first report associating severe migraine headaches in a child with coarctation of the aorta. Given complete recovery following balloon dilation of the aorta, cardiac echocardiogram should be added to the diagnostic battery of children with severe unresponsive migraine. (J Child Neurol 2000;15: 826-827).
Topical Review: Magnetoencephalography and Magnetic Source Imaging in Children
Authors: Otsubo Hiroshi , Snead O. Carter
Published: January 2008

Magnetoencephalography is a technique that detects the magnetic fields associated with the intracellular current flow within neurons, unlike electroencephalography, which measures extracellular volume currents. Superconducting quantum interference devices are used to amplify these very small magnetic field signals. Magnetic source imaging is the combination of functional data derived from magnetoencephalographic recordings coregistered with structural magnetic resonance imaging (MRI). The utility of magnetic source imaging lies in the combination of the submillisecond temporal resolution of magnetoencephalography with the precise anatomic images provided by magnetic resonance imaging. As such, magnetic source imaging is a useful tool for noninvasive localization of the epileptogenic zone in children who are candidates for epilepsy surgery. Similarly, using magnetoencephalographic recordings with evoked and event-related potentials, magnetic source imaging holds great promise as a noninvasive method for precise localization of somatosensory, motor, language, visual, and auditory cortex. Finally, magnetic source imaging is proving a valuable research tool in the investigation of epilepsy, head trauma, brain plasticity, and disorders of language, memory, cognition, and executive function in children. ( J Child Neurol 2001;16:227-235).
Molybdenum Cofactor Deficiency: Report of Three Cases Presenting as Hypoxic Ischemic Encephalopathy
Authors: Topcu Meral , Coskun Turgay , Haliloglu Goknur , Saatci Isil
Published: January 2008

We report three infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hyperexcitability, low blood uric acid levels, and neuroimaging findings. The parents were consanguineous in two of these patients. The diagnosis was established by the presence of low blood uric acid levels, positive urine sulfite reaction, quantitative aminoacid analysis, and high-voltage electrophoresis of the urine sample showing a typical increase of S-sulfo-L-cysteine. Skin fibroblast cultures confirmed the diagnosis. Magnetic resonance imaging findings were suggestive of encephalomalacia with cystic changes due to hypoxic-ischemic encephalopathy. We conclude that molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with intractable seizures in the newborn period who have computed tomography and magnetic resonance imaging findings reminiscent of those of hypoxic-ischemic encephalopathy, and the urine sulfite dipstick test can be a part of the evaluation of these infants in neonatal intensive care units. ( J Child Neurol 2001;16:264-270).