bluuebunny/crossref_metadata_2025 huggingface dataset:
Progressive Cardiac Dysautonomia Observed in Patients Affected by Classic Rett Syndrome and Not in the Preserved Speech Variant
Authors: Guideri Francesca , Acampa Maurizio , DiPerri Tullio , Zappella Michele , Hayek Yusuf
Published: March 2008

Incidence of sudden death in Rett syndrome is greater than that of the general population, and cardiac electrical instability is a prime suspect cause. The objective of the present study was the evaluation of heart rate variability, a marker of autonomic activity, in females affected by classic Rett syndrome and atypical variants for a possible explanation of the higher risk for sudden death observed in these subjects. Our study showed that girls with classic Rett syndrome had significantly lower heart rate variability and longer corrected QT intervals than in atypical Rett syndrome and age-matched healthy girls. Reduction of heart rate variability progresses with age and with the clinical stage of the syndrome. These results suggest the possible role of the progressive cardiac dysfunction in the sudden death associated with Rett syndrome. (J Child Neurol 2001;16:370-373).
Acute Necrotizing Encephalopathy Presenting as a Basal Ganglia Syndrome
Authors: Ravid Sarit , Topper Leon , Eviatar Lydia
Published: March 2008

Acute necrotizing encephalopathy is a relatively new disease. The characteristic clinical findings are of febrile illness followed by rapid deterioration in mental status and seizures. The hallmark of the disease is multifocal bilateral symmetric lesions affecting the thalamus, hypothalamus, brainstem tegmentum, cerebral white matter, and cerebellum. The etiology is unknown, but immune-mediated mechanism was suggested. We present a 12-year-old previously healthy girl who developed increased sleepiness progressing to stupor and coma. Magnetic resonance imaging (MRI) of the brain showed the characteristic findings previously described in acute necrotizing encephalopathy. Her mental status improved dramatically with steroid treatment, and the MRI findings resolved completely within 6 months. Following the acute illness, she developed a complex neuropsychiatric disorder consistent with basal ganglia syndrome. (J Child Neurol 2001;16:461-462).
Utility of Electroencephalography in the Pediatric Emergency Department
Authors: Alehan Füsun K. , Morton Lawrence D. , Pellock John M.
Published: March 2008

To assess the role of electroencephalography (EEG) in the pediatric emergency department, we reviewed the records of all patients having an EEG in the pediatric emergency department of our hospital between 1995 and 1997. EEG findings, clinical presentations, and follow-up data were analyzed, and patients were distributed into three groups according to clinical presentation: group 1 included patients with new-onset seizures, group 2 included patients with known epilepsy presenting with worsening seizures and altered mentation, and group 3 comprised patients with acute confusional states. Overall, 56 patients with 57 EEGs were included. In group 1 (n = 36), 20 (55.6%) had an abnormal EEG. The risk of recurrence was much higher in children with abnormal EEGs (80% vs. 31%) (P < .01). In retrospect, among all of the patients receiving the diagnosis of epilepsy, 76% had an abnormal emergency department EEG. Four in group 2 (n = 14) and one in group 3 (n = 7) were proven to have nonconvulsive status epilepticus and were treated accordingly. No patients in group 1 had nonconvulsive status epilepticus. Ongoing seizures were promptly excluded in the remainder. The EEG directly contributed to the diagnosis in 84% of all referrals in the pediatric emergency department, either being abnormal and leading to a diagnosis of a seizure disorder or confirming low suspicion for seizures. Thus, a prompt EEG should be considered in children with new-onset seizures and unexplained altered consciousness. (J Child Neurol 2001;16:484-487).
Prospective Study of Recovery Following Neonatal Brachial Plexus Injury
Authors: Noetzel Michael J. , Park T.S. , Robinson Shenandoah , Kaufman Bruce
Published: March 2008

The prognosis for recovery from brachial plexus injury sustained at or before birth is generally favorable. However, roughly 10% of these infants remain profoundly weak and later exhibit functional disability in the affected arm. Early identification of these at-risk infants would be helpful in selecting patients for surgical management. In our prospective study, 80 infants with brachial plexus injury were examined on a monthly basis. Complete recovery occurred in 53 (66%); in 9 (11%), mild weakness persisted. In each child, recovery to antigravity strength in the biceps, triceps, and deltoid was noted by 6 months of age. Moderate arm weakness persisted in 7 children (9%); none had antigravity strength in the deltoid at age 6 months. Eleven children (14%) had severe permanent weakness (mean follow-up: 4.4 years). At age 6 months, these individuals exhibited at best 2/5 strength proximally and typically 0-1/5 strength in the wrist and finger extensors. Our results demonstrate that detailed strength testing up to 6 months of age predicts not only complete recovery of neonatal brachial plexus injury but also those children destined for long-term severe disability. (J Child Neurol 2001;16:488-492).
Etiologic Yield of Autistic Spectrum Disorders: A Prospective Study
Authors: Shevell Michael I. , Majnemer Annette , Rosenbaum Peter , Abrahamowicz Michal
Published: March 2008

At present, the etiologic yield in community-derived samples of young children with an autistic spectrum disorder is not known. To address this question, all young children (under 5 years of age) referred for an initial assessment to ambulatory pediatric neurology or developmental pediatric clinics at a tertiary university center over an 18-month period for a suspected developmental delay were prospectively identified. Specific diagnostic testing was left to the discretion of the evaluating physician. In all, 50 children with an autistic spectrum disorder were assessed. Detailed history or physical examination was informative with respect to suggesting the possibility of an underlying etiology in a minority (10/50,20%). Genetic studies (FMR-1, karyotype), electroencephalography (EEG), and neuroimaging were carried out in a majority (42/50, 34/50, and 33/50, respectively) of the children, for the most part on a screening rather than an indicated basis (31/42, 34/34, and 28/33, respectively). Etiologic yield was low (1/50,2%), with only a single child identified with a possible Landau-Kleffner variant on sleep EEG tracing. The results suggest an evaluation paradigm with reference to etiologic determination for young children with autistic spectrum disorder that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk and treatment implications, however, suggest that strong consideration be given to genetic (FMR-1, karyotype) testing and EEG study despite a relatively low yield. (J Child Neurol 2001;16:509-512).
High Mitochondrial DNA T8993G Mutation (>90%) Without Typical Features of Leigh's and NARP Syndromes
Authors: Tsao Chang-Yong , Mendell Jerry R. , Bartholomew Dennis
Published: March 2008

Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome and maternally inherited Leigh's syndrome have been associated with T8993G point mutations in the mitochondrial adenosine triphosphatase 6 gene. Typically, NARP syndrome is characterized by developmental delay, seizures, dementia, retinitis pigmentosa, ataxia, sensory neuropathy, and proximal weakness. Usually, there is a correlation between the percentage of mutated mitochondrial DNA and clinical severity, and when mutated mitochondrial DNA is > 90%, it is often seen with Leigh's syndrome. We now report a family with mitochondrial DNA T8993G mutation in eight living members, five with mutant mitochondrial DNA >90% and one with 20% mutant mitochondrial DNA. However, their clinical features include variable combinations of seizures, behavior problems, learning disability, mental retardation, sensorineural deafness, cerebellar ataxia, and proximal muscle weakness. No retinitis pigmentosa was found in all eight living members, including a 56-year-old grandmother. Only one dead female relative was diagnosed with Leigh's syndrome on the neuropathologic examination at age 22 years, when she died of an accident. High mitochondrial DNA T8993G mutation is not always associated with typical features of Leigh's and NARP syndromes. (J Child Neurol 2001;16:533-535).
Delayed Diagnosis of Pediatric Langerhans' Cell Histiocytosis: Case Report and Retrospective Review of Pediatric Cases Seen at Mayo Clinic
Authors: Jarquin-Valdivia Adrian A. , Buchhalter Jeffrey
Published: March 2008

Langerhans' cell histiocytosis is a disease of the dendritic histiocytes with a wide variety of clinical manifestations. This report describes a boy with Langerhans' cell histiocytosis who presented with primarily neurologic and endocrinologic findings, without pain. The diagnosis of Langerhans' cell histiocytosis was not made until 10 years after symptom onset. The pathology database at Mayo Clinic was searched for cases of Langerhans' cell histiocytosis between 1985 and 1999 under 19 years of age (65 children), and information regarding clinical presentation was abstracted. Database review found a range of 1 day to 156 weeks (mean 13.8 weeks) from symptom onset to diagnosis. No other patients with primarily neurologic symptoms were found. The diagnosis of Langerhans' cell histiocytosis was made significantly sooner after onset if pain was present (chi-square = 19.1, P < . .001, two-tailed, phi coefficient 0.54). Our findings indicate that neurologic manifestations of Langerhans' cell histiocytosis are rare, and the combination of diabetes insipidus, ataxia, skin rash, or osseous pain should alert the clinician to the possibility of Langerhans' cell histiocytosis and avoid delayed diagnosis. (J Child Neurol 2001;16: 535-538).
Affective Illness in Children and Adolescents: Patterns of Presentation in Relation to Pubertal Maturation and Family History
Authors: Schraufnagel Caitlin Davies , Brumback Roger A. , Harper Caryn R. , Weinberg Warren A.
Published: March 2008

Affective illness is now recognized as a common problem in all age groups, and the various patterns have been well documented in adults. The objective of this study was to evaluate the patterns of affective illness in children and determine changes with increasing age and family history. One hundred children/adolescents with affective illness (72 boys and 28 girls; age range 2-20 years; mean age 10 years), who were consecutively referred to the Pediatric Behavioral Neurology Program, Children's Medical Center at Dallas, were evaluated for the pattern and course of affective illness symptoms, family history, and pubertal stage. Seven patterns of affective illness were identified. In the 65 prepubertal children (Tanner stage 1), disorders with hypomanic/manic symptomatology were most common (47/65, 72%): mania (2/65, 3%), hypomania (8/65, 12%), cyclothymia (11/65, 17%), juvenile rapid-cycling bipolar disorder/ultradian cycling bipolar disorder (8/65, 12%), and dysthymia with bipolar features (18/65, 28%). In contrast, the 26 fully pubertal adolescents (Tanner stages 3-5) had a predominance of patterns with only depressive symptomatology (16/26, 61%): dysthymia (4/26, 15%) and depression (12/26, 46%), along with juvenile rapid-cycling bipolar disorder/ultradian cycling bipolar disorder (6/26, 23%). Affective illness, alcoholism, and drug abuse were prominent in the family histories, regardless of the child's pattern of symptoms. Family histories of character disorder and Briquet's syndrome were also common, but thought disorder, suicide, and homicide were infrequent. This study supports the clinical observation that the presentation of affective illness changes with age: manic features predominate in younger children, whereas depressive symptomatology is more evident with pubertal maturation. (J Child Neurology 2001;16:553-561).
Melatonin for Treatment of Sleep Disorders in Children With Developmental Disabilities
Authors: Dodge Nancy N. , Wilson Gregory A.
Published: March 2008

This study explored the safety and efficacy of synthetic melatonin in the treatment of sleep problems in 20 children with developmental disabilities, in a randomized, double-blind, placebo-controlled 6-week trial of melatonin versus placebo. All but 2 children fell asleep more quickly when receiving melatonin than placebo. Overall, the greater the sleep latency (time to fall asleep) was at baseline or when receiving placebo, the more pronounced was the decrease in sleep latency with melatonin. The effect of melatonin on sleep latency was significant (P < .05). The duration of sleep while receiving melatonin was significantly greater than baseline (P < .007) but was not significantly different from placebo, and no difference in the number of awakenings was noted. No side effects were reported. Eleven of 18 parents (61%) correctly identified the weeks their child received melatonin. This study suggests that synthetic melatonin reduces sleep latency in children with developmental disabilities. (J Child Neurol 2001;16:581-584).
Idiopathic Trigeminal Sensory Neuropathy in Childhood
Authors: Matoth Israel , Taustein Ilana , Shapira Yehuda
Published: March 2008

Idiopathic trigeminal sensory neuropathy is well documented in the adult population. We report a rare case of idiopathic trigeminal sensory neuropathy in a 9-year-old girl in whom the territory innervated by all three nerve divisions was affected. Our patient presented with an atypical clinical picture combining right facial numbness, hyperesthesia, and photophobia. Motor paresis and pain were absent, the corneal reflex was retained, and complete recovery was achieved after 10 weeks. The clinical course of this condition resembles that of childhood peripheral facial nerve palsy and may stem from a similar etiology. To our knowledge, our patient is the first reported case of benign, reversible, idiopathic trigeminal sensory neuropathy occurring in childhood. (J Child Neurol 2001;16:623-625).
Increased Medial Thalamic Choline in Pediatric Obsessive-Compulsive Disorder as Detected by Quantitative in Vivo Spectroscopic Imaging
Authors: Rosenberg David R. , Amponsah Akua , Sullivan April , MacMillan Shauna , Moore Gregory J.
Published: March 2008

The thalamus has been implicated in the pathophysiology of obsessive-compulsive disorder. Using a multislice spectroscopic imaging sequence, we reported reductions in right and left medial thalamic N-acetylaspartate/cytosolic choline + creatine/phosphocreatine and N-acetylaspartate/cytosolic choline levels in 11 pediatric patients with obsessive-compulsive disorder, 8 to 15 years, versus 11 case-matched healthy controls. These changes may reflect a change in N-acetylaspartate, cytosolic choline, or creatine concentrations. Therefore, using a validated phantom replacement methodology, we obtained absolute measures (mmol/L) of N-acetylaspartate, a putative marker of neuronal viability, cytosolic choline, and creatine in these subjects. A significant increase in cytosolic choline was observed in right and left medial but not lateral thalami in patients with obsessive-compulsive disorder versus controls. N-acetylaspartate and creatine did not differ significantly between case-control pairs in the medial or lateral thalamus. These findings provide new evidence of cytosolic choline abnormalities in the thalamus in pediatric obsessive-compulsive disorder. (J Child Neurol 2001;16:636-641).
Optic Neuritis: A Novel Presentation of Schilder's Disease
Authors: Afifi Adel K. , Follett Kenneth A. , Greenlee Jeremy , Scott William E. , Moore Steven A.
Published: March 2008

The clinical features of a 7-year-old girl who presented with unilateral optic neuritis are presented. Magnetic resonance imaging (MRI) showed lesions in the affected optic nerve and the centrum semiovale bilaterally. Biopsy of one of the cerebral lesions was consistent with a diagnosis of Schilder's disease. Visual acuity returned to normal, and the demyelinating MRI lesions improved markedly with corticosteroid treatment. Optic neuritis is a novel mode of presentation in Schilder's disease. ( J Child Neurol 2001;16:693-696).
Persistence of Breath-Holding Spells Into Late Childhood
Authors: Goraya Jatinder S. , Virdi Verinderjit S.
Published: March 2008

Breath-holding spells commonly occur during infancy. The disorder represents a self-limited, benign phenomenon, and breathholding spells almost always resolve by school age. Their continuing occurrence beyond this age is exceedingly uncommon and may create diagnostic confusion. We recently encountered an 8-year-old boy who continues to experience breath-holding spells. (J Child Neurol 2001;16:697-698).
Evaluation of Cerebral Maturation by Visual and Quantitative Analysis of Resting Electroencephalography in Children With Primary Nocturnal Enuresis
Authors: Hallioglu Olgu , Ozge Aynur , Comelekoglu Ulku , Topaloglu Ali Kemal , Kanik Arzu , Duzovali Oznur , Yilgor Esat
Published: March 2008

This study was undertaken to evaluate resting electroencephalographic (EEG) changes and their relations to cerebral maturation in children with primary nocturnal enuresis. Cerebral maturation is known to be important in the pathogenesis of this disorder. Twenty-five right-handed patients with primary nocturnal enuresis, aged 6 to 14 years, and 23 age- and sex-matched healthy children were included in this cross-sectional case-control study. The abnormalities detected using such techniques as hemispheral asymmetry, regional differences, and hyperventilation response in addition to visual and quantitative EEG analysis were examined statistically by multivariate analysis. A decrease in alpha activity in the left (dominant hemisphere) temporal lobe and in the frontal lobes bilaterally and an increase in delta activity in the right temporal region were observed. We concluded that insufficient cerebral maturation is an important factor in the pathogenesis of primary nocturnal enuresis, and EEG, as a noninvasive and inexpensive method, could be used in evaluating cerebral maturation. (J Child Neurol 2001;16:714-718).
Possible Role of High-Dose Corticosteroids in the Treatment of Cat-Scratch Disease Encephalopathy
Authors: Weston Koren D. , Tran Thang , Kimmel Kimberly N. , Maria Bernard L.
Published: March 2008

Approximately 2% of the estimated 24,000 patients in the United States who contract cat-scratch disease annually develop neurologic complications. Between 1989 and 1999, 36 patients were admitted to our hospital with cat-scratch disease; 25% had neurolugic complications, and the majority experienced lengthy hospital stays. We describe a case of cat-scratch disease encephalopathy in a 4-year-old girl who responded to high-dose corticosteroid therapy. Further studies are warranted to determine if corticosteroid therapy shortens the duration of symptoms, lessens the severity of disease, and ultimately improves the outcome for patients with cat-scratch disease encephalopathy. (J Child Neurol 2001;16:762-763).
Hypopotassemic Paralysis: A Rare Presentation of Proximal Renal Tubular Acidosis
Authors: Deda Gülhis , Ekim Mesiha , Gfven Alev , Karagöl Ugur , Tümer Necmiye
Published: March 2008

Neurologic manifestations can accompany systemic diseases, and primary disease can be identified with a careful history, physical examination, and laboratory investigations. A 14-year-old girl with paraplegia and absence of deep tendon reflexes in the lower extremities after 2 days of vomiting and diarrhea was referred to our pediatric neurology department with a diagnosis of Guillain-Barré syndrome. Short stature, dehydration, motor and mental retardation, bilateral cataracts, glaucoma, and band keratopathy were detected on physical examination. Hypopotassemia and severe metabolic acidosis were found on biochemical examination. Her paraplegia improved after appropriate fluid and electrolyte replacement, but metabolic acidosis persisted after cessation of intravenous therapy, and isolated proximal renal tubular acidosis was detected. Because she had isolated proximal renal tubular acidosis and other abnormalities, she was diagnosed with Donckerwolcke-Winsnes syndrome. (J Child Neurol 2001;16:770-771).
Topical Review: Benign Idiopathic Partial Epilepsies in Infancy
Authors: Capovilla Giuseppe , Vigevano Federico
Published: March 2008

In infancy, partial epilepsies have been considered with suspicion for their probable association with brain lesions. Japanese authors first described partial epilepsies in infancy with a favorable outcome and called them benign partial epilepsy in infancy with complex partial seizures. Similar, but familial, cases with onset during the first year of life were described some years later and called benign infantile familial convulsions. Similar familial cases with subsequent choreoathetosis were described in 1997 and called infantile convulsions and choreoathetosis. Benign infantile convulsions have also been described in association with mild gastroenteritis. Interictal electroencephalography (EEG) was always normal in all of these forms. More recently, a new epileptic syndrome characterized by partial seizures with onset between ages 13 and 30 months, a benign outcome, and characteristic EEG abnormalities in the vertex regions during sleep has been described. There is also an early-onset benign childhood occipital seizure susceptibility syndrome that can start in infancy. (J Child Neurol 2001;16:874-881).
Sphenoid Sinusitis Masquerading as Migraine Headaches in Children
Authors: Ng Yu-tze , Butler Ian J.
Published: March 2008

The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Three cases of children with isolated sphenoid sinusitis presenting with acute, subacute, and chronic headache symptoms are presented. The sensory innervation of the sphenoid sinus is derived from the ophthalmic and maxillary branches of the trigeminal nerve, which may explain the pathophysiology of the headache, similar to the trigeminovascular pain theory of migraine. There are few reports on sphenoid sinusitis and headache; however, modem neuroimaging has made this probably under-recognized disorder easier to diagnose and treat. Although the diagnosis can be difficult to differentiate from migraine headache, early and appropriate treatment usually results in an excellent outcome without morbidity. (J Child Neurol 2001;16:882-884).
Pervasive Developmental Disorders and GABAergic System in Patients With Inverted Duplicated Chromosome 15
Authors: Borgatti Renato , Piccinelli Paolo , Passoni Davide , Raggi Elisabetta , Ferrarese Carlo
Published: March 2008

Pervasive developmental disorders are characterized by severe, pervasive impairment in several areas of development, with distorted communication skills and stereotypical behavior. Pervasive developmental disorders have a heterogeneous etiology related to brain damage, familial affective psychopathology, chromosomal abnormalities, or dysfunction of neuromodulators. Recently, it has been suggested that the GABRB3 gene, located within chromosome 15q11-13, is a candidate for pervasive developmental disorder. In inverted duplicated chromosome 15 syndrome, in which there is a small marker chromosome derived from inversion and duplication of the chromosome 15q11-q13 region, all patients present with pervasive developmental disorder. To further investigate a possible involvement of the γ-aminobutyoic acid (GABA)ergic system in the inverted duplicated chromosome 15 syndrome, we evaluated plasma levels of GABA and diazepam binding inhibitor in 6 patients with inverted duplicated chromosome 15 and in 8 subjects not affected by neurologic disease. Our findings do not seem to support this hypothesis as no significant differences were found in the GABA and diazepam binding inhibitor plasma levels between patients with inverted duplicated chromosome 15 and controls, but we must consider the possibility that a genetic abnormality of the GABA A receptor could be present in patients with inverted duplicated chromosome 15 and still not be reflected in an alteration in either GABA or diazepam binding inhibitor levels in plasma. (J Child Neurol 2001;16:911-914).
Benign Childhood Epilepsy With Centrotemporal Spikes: Clinical Characteristics and Identification of Patients at Risk for Multiple Seizures
Authors: Kramer Uri , Zelnik Nathanel , Lerman-Sagie Tally , Shahar Eli
Published: March 2008

This study aimed to characterize patients diagnosed as having benign childhood epilepsy with centrotemporal spikes and few seizures and compare them with patients with benign childhood epilepsy with centrotemporal spikes with multiple seizures. The medical files of 87 consecutive patients with benign childhood epilepsy with centrotemporal spikes were reviewed and data on gender, age at disease onset, duration of the disease, number of seizures, seizure semiology, and electroencephalographic and neuroimaging findings were analyzed. The mean age at disease onset was 8 years. The mean duration of the disease was 2 years. Eighteen percent of the patients had more than 20 seizures each, whereas 24% had 1 to 3 seizures each. The only predictor for a disease course with multiple seizures was an onset prior to 3 years of age. (J Child Neurol 2002;17:17-19).
Gelastic Seizure With Hypothalamic Hamartoma: Proton Magnetic Resonance Spectrometry and Ictal Electroencephalographic Findings in a 4-Year-Old Girl
Authors: Wakai Shuji , Nikaido Koki , Nihira Hiroshi , Kawamoto Yoshitaka , Hayasaka Hiroyuki
Published: March 2008

Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2½ years, she developed brief, repetitive laughing attacks or mixed attacks with laughing and crying, which were refractory to carbamazepine. An interictal EEG showed intermittent slow waves in the left frontocentral region and sporadic positive sharp waves in the left centroparietal area. Ictal EEG demonstrated dysrhythmic theta activity in the left central area 3 seconds after the onset of laughing. Brain magnetic resonance imaging demonstrated a large sessile mass, isointense to gray matter, in the region of the hypothalamus, suggesting hypothalamic hamartoma. Proton magnetic resonance spectrometry of the hypothalamic hamartoma revealed a significant reduction of the N-acetylaspartate/serum creatinine ratio. The altered chemical shift imaging with magnetic resonance spectrometry in our patient suggests a biochemical abnormality in the tissue of the hypothalamic hamartoma. Moreover, this abnormal function of the hamartoma tissue might be closely related to epileptogenesis because the time difference between the ictal laughter and the subsequent EEG changes in the ictal EEG does not support the idea that the activated cortex is the epileptogenic focus. (J Child Neurol 2002;17:44-46).
Neurodevelopmental and Behavioral Abnormalities Associated With Deletion of Chromosome 9p
Authors: Eshel Gideon , Lahat Eli , Reish Orit , Barr Joseph
Published: March 2008

We report a child with craniosynostosis, partial absence of the corpus callosum, developmental delay, precocious puberty, and deletion of chromosome 9(p 12p 13,3). A review of the literature did not reveal any previous combination of the same kind. Craniosynostosis and partial absence of the corpus callosum, separately or in conjunction, may be part of the spectrum of malformations in the chromosome 9p deletion syndrome, and its presence, in combination with other known features, should prompt a search for this particular deletion as part of the differential diagnosis. (J Child Neurol 2002;17:50-51).
Reversible Vascular Changes in Children With Cerebral Infarction
Authors: Kobayashi Kenichiro , Yoshioka Mieko , Yamakawa Masaru , Kubota Masaru , Nishio Toshikazu
Published: March 2008

A case of cerebral infarction in a 4-year-old male is described. The child presented with an acute onset of right hemiplegia, central facial palsy, and dysarthria. He had no predisposing factors for cerebral infarction. A computed tomography scan showed a diffuse low-density area in the territory of the left middle cerebral artery. Magnetic resonance angiography disclosed multiple irregular narrowings in the left anterior and middle cerebral arteries. He recovered spontaneously from the stroke with minimal long-term complications, and repeated angiography disclosed a complete regression of the vascular changes 2 months after the stroke. There was no recurrence of stroke after 2-year follow-up. This case demonstrates the importance of longitudinal angiographic follow-up in childhood cerebral infarction of idiopathic origin. (J Child Neurol 2002;17:61-63).
Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features
Authors: Dilber Embiya , Aynaci Fatma Müjgan , Ahmetoglu Ali
Published: March 2008

We present two siblings with pontocerebellar hypoplasia who have progressive microcephaly, mental and motor retardation, truncal ataxia, strabismus, and progressive spasticity and hyperreflexia of the lower limbs. Extrapyramidal dyskinesia and epilepsy, other main clinical features of pontocerebellar hypoplasia, are absent. The older sibling also has a high arched palate, triangular-shaped face, thoracolumbar scoliosis, pectus carinatum, kyphosis, cubitus valgus, arachnodactyly, long extremities, and a tall stature, which were not previously reported in association with pontocerebellar hypoplasia. The clinical phenotype should be expanded, especially within type II, with the reports of additional cases. (J Child Neurol 2002;17:64-66).
Lumbar Spinal Stenosis Causing Congenital Clubfoot
Authors: Ng Yu-tze , Mancias Pedro , Butler Ian J.
Published: March 2008

Congenital lumbar spinal stenosis is believed to rarely cause neurologic symptoms during childhood. We present a 16-year-old boy with bilateral congenital clubfeet surgically corrected by tendo Achillis releases at 2 years of age who presented with progressive, bilateral footdrop. Magnetic resonance imaging of his lumbosacral spine showed severe spinal stenosis at the L3-5 vertebrae. Congenital lumbar spinal stenosis is probably an under-recognized cause of lower extremity neurologic abnormalities, including clubfoot deformity. Magnetic resonance imaging has made this eminently treatable disorder easier to recognize. (J Child Neurol 2002;17:72-74).
Brain Activation Profiles During the Early Stages of Reading Acquisition
Authors: Simos Panagiotis G. , Fletcher Jack M. , Foorman Barbara R. , Francis David J. , Castillo Eduardo M. , Davis Robert N. , Fitzgerald Michele , Mathes Patricia G. , Denton Carolyn , Papanicolaou Andrew C.
Published: March 2008

In the present study, we demonstrate for the first time the presence of an aberrant brain mechanism for reading in children who have just started acquiring reading skills. Children who, at the end of kindergarten, are found to be at risk for developing reading problems display markedly different activation profiles than children who have, at this stage, already mastered important prereading skills. This aberrant profile is characterized by the lack of engagement of the left-hemisphere superior temporal region, an area normally involved in converting print into sound, and an increase in activation in the corresponding right-hemisphere region. This finding is consistent with current cognitive models of reading acquisition and dyslexia, pointing to the critical role of phonologic awareness skills in learning to read. (J Child Neurol 2002;17:159-163).
Use of Modafinil in Spastic Cerebral Palsy
Authors: Hurst Daniel L. , Lajara-Nanson Walter
Published: March 2008

After an initial patient with cerebral palsy had an apparent dramatic reduction in spasticity when placed on modafinil, a pilot study was undertaken in 10 pediatric patients to confirm or refute the benefit of modafinil in cerebral palsy. Nine of 10 patients completed the 1-month treatment period. The study patients were treated with 50 or 100 mg of modafinil once daily in the morning. An assessment was made at baseline and at 1 month on treatment. All patients had a clinical examination, Modified Ashworth Scale scores (spasticity) determined by a physical therapist, and videotaping of ambulation. In comparing visit 1 (baseline) and visit 2 (on treatment), statistically significant improvement in the modified Ashworth Scale scores was noted in seven of the nine patients completing the study (P = .0080). A blinded review of the videotapes did not show statistically significant differences in ambulation, but the speed (ft/sec) of gait improved in six of the nine patients (P = .0192). In this study, modafinil, a newly released central stimulant for narcolepsy, showed benefit in treating spasticity in patients with cerebral palsy. A second larger, placebo-controlled, double-blinded trial is planned to confirm these initial results and observations. Modafinil appears to benefit spastic cerebral palsy by a yet to be determined mechanism ; however, a primary effect of modafinil on brainstem structures is hypothesized to reduce spasticity of central origin. (J Child Neurol 2002;17:169-172).
Contrasting the Neurologic Complications of Cardiac Transplantation in Adults and Children
Authors: Mayer Thomas O. , Biller José , O'Donnell Jacqueline , Meschia James F. , Sokol Deborah K.
Published: March 2008

The objective of this study was to evaluate neurologic complications associated with cardiac transplantation and compare the neurologic complications seen in adults and children. As advances in immunology have led to longer survival times for cardiac transplant recipients (1- and 5-year survival rates have improved to 86% and 65%, respectively), a number of neurologic complications have emerged. We performed a 14-year retrospective review of all adults and children (<18 years old) who had orthotopic cardiac transplantation at either Indiana University Hospital or James Whitcomb Riley Hospital for Children. The rates of neurologic complications involving the central and peripheral nervous systems in adults and children were assessed for differences using the chi-square test and Fisher's exact test where appropriate. A total of 191 orthotopic cardiac transplants were performed from 1986 to 2000, with follow-up available for 184, including 107 adults and 77 children. Thirty-two of 107 (30%) adults experienced a total of 47 complications, with peripheral neuropathies being the most frequent complication. Eighteen of 77 (23%) children experienced a total of 22 complications, with seizures being the most frequent complication. Other complications occurring in both groups were cerebrovascular, infectious, encephalopathies, neoplasms, and "other." Neurologic complications in children and adults after orthotopic cardiac transplantation are similar in both incidence and type. However, peripheral neuropathies tend to occur more frequently in adults than in children (P = .04), and the types of complications in the immediate post-transplant period seem to differ. (J Child Neurol 2002;17:195-199).
Cerebrospinal Fluid Neuron-Specific Enolase Following Seizures in Children: Role of Etiology
Authors: Wong Michael , Ess Kevin , Landt Michael
Published: March 2008

Neuron-specific enolase, a marker for neuronal injury, is elevated following seizures in adults, but relatively few data exist on postictal neuron-specific enolase levels in children. This study measured cerebrospinal fluid (CSF) neuron-specific enolase levels after seizures in 49 consecutive pediatric patients and investigated the role of seizure type, duration, and etiology in influencing neuron-specific enolase. Overall, there was no significant difference in neuron-specific enolase levels between patients with seizures and a control group. However, 4 of the 49 seizure patients (8%) had neuron-specific enolase levels clearly above the normal range. Seizure patients with symptomatic etiologies had significantly increased neuron-specific enolase compared to cryptogenic/idiopathic or febrile seizures. The four individual patients with elevated cerebrospinal fluid neuron-specific enolase all had identified metabolic or genetic etiologies and presented with medically refractory status epilepticus. No individuals with cryptogenic/idiopathic or febrile seizures had abnormal neuron-specific enolase. There was no significant effect of seizure duration or type on cerebrospinal fluid neuron-specific enolase. In contrast to adults, acute seizure-induced neuronal injury in children as detected by neuron-specific enolase is rare and may occur primarily with severe symptomatic etiologies. Children with cryptogenic, idiopathic, or febrile seizures, including status epilepticus, are at relatively low risk for neuronal damage following seizures. (J Child Neurol 2002;17:261-264).
Interhemispheric Reorganization of Motor Hand Function to the Primary Motor Cortex Predicted With Functional Magnetic Resonance Imaging and Transcranial Magnetic Stimulation
Authors: Rutten Geert-Jan M. , Ramsey Nick F. , Van Rijen Peter C. , Franssen Hessel , Van Veelen Cees W. M.
Published: March 2008

The objective of this study was presurgical assessment of reorganization of motor hand function in an 11-year-old girl with intractable epilepsy and a right-sided hemiplegia resulting from an extensive perinatal left hemispheric stroke. Prior to a left functional hemispherectomy, functional magnetic resonance imaging (MRI) showed that both nonparetic and paretic motor hand function predominantly activated the right primary motor cortex, whereas no activation was found in the left hemisphere. Transcranial magnetic stimulation of the right central area yielded responses in both the nonparetic and the paretic hand, whereas no responses were obtained after stimulation of the affected hemisphere. Both techniques indicated that motor function was mediated by corticospinal fibers originating from the undamaged (primary) motor cortex and predicted no further loss of motor hand function after surgery. Indeed, subsequent functional hemispherectomy induced no new sensorimotor deficits. Functional MRI was repeated 22 months after surgery and matched preoperative sensorimotor functional MRI findings, confirming reorganization of the primary motor cortex. No additional reorganization was introduced by surgery. (J Child Neurol 2002;17:292-297).
Cerebellar Infarction: An Unrecognized Complication of Very Low Birthweight
Authors: Johnsen Stanley D. , Tarby Theodore J. , Lewis Kara Stuart , Bird Roger , Prenger Erin
Published: March 2008

We evaluated 13 children with cerebral palsy who had birthweights under 1085 g. A magnetic resonance image (MRI) of the head was obtained, the findings were compared, and the neonatal records were reviewed. The individual children were classified as to the type of cerebral palsy. On MRI, all had severe injury to the inferior cerebellar hemispheres, mostly symmetric, and in some there was injury to the inferior vermis. The average birthweight was 668 g, and the gestational ages were 24 to 27 weeks. No other outstanding prenatal or postnatal problems were identified. The children had different types of severe cerebral palsy, with only 3 being able to walk. Almost all were mentally retarded and microcephalic. All had visual problems. This report defines a previously underappreciated injury to the cerebellum in extremely premature infants. Further clinical, laboratory, and pathologic studies are needed to better defme the underlying mechanisms. (J Child Neurol 2002;17:320-324).
Decision Support System for Classification of Epilepsies in Childhood
Authors: Vassilakis Kostas M. , Vorgia Lagia , Micheloyannis Sifis
Published: March 2008

Diagnosis of epilepsy in childhood is often difficult as the symptoms are often atypical and the epilepsy syndromes are multiform. Methods from the domain of artificial intelligence give the opportunity to formalize medical knowledge and standardize various diagnostic procedures in specific domains of medicine. We developed a decision support system using artificial intelligence techniques for the classification and ultimately the diagnosis of epilepsies and epilepsy syndromes in children. The system incorporates knowledge from the International Classification of Epilepsies and Epileptic Syndromes. It was assessed using clinical data and the system's conclusions were compared with the diagnoses proposed by an experienced doctor. The system and the physician reached identical diagnoses in 85.2% of the cases. In an additional 8.2% of the cases, the system's diagnosis was similar to that of the physician, thus raising its overall success rate to 93.4%. The system can be helpful, especially for trainees, since it only needs to import the clinical and laboratory data. Decision making and differential diagnosis are then performed automatically. (J Child Neurol 2002;17:357-363).
Mitochondrial Disorders: A Potentially Under-recognized Etiology of Infantile Spasms
Authors: Shah Namrata S. , Mitchell Wendy G. , Boles Richard G.
Published: March 2008

Infantile spasms represent an age-dependent response of the immature brain to a wide variety of insults. An unselected group of children with infantile spasms were reviewed to determine etiology; a metabolic work-up was undertaken if the etiology was unclear from history and examination (cryptogenic). Of the 56 infants, 34 had a recognizable etiology (symptomatic), 1 had normal development (idiopathic), and 21 had cryptogenic infantile spasms. Among the latter, results of plasma lactate and pyruvate or urine organic acids were available in 17. In 2 infants (monozygotic twins), mitochondrial DNA testing revealed the relatively common A3243G mitochondrial mutation. In these twins and 11 of the remaining 15, body fluid metabolite testing suggested possible defective energy metabolism. Our twins and previous reports suggest that mitochondrial disorders should be considered in the differential diagnosis of infantile spasms. Among our cases remaining cryptogenic, signs of abnormal energy metabolism were prevalent, suggesting that metabolic derangements may be common causes or secondary consequences of infantile spasms. (J Child Neurol 2002;17:369-372).
Pena-Shokier Phenotype: Case Presentation and Review
Authors: Kho Nathaniel , Czarnecki Laurence , Kerrigan John F , Coons Stephen
Published: March 2008

Pena-Shokier phenotype is an early lethal disorder involving multiple joint contractures, facial anomalies, and pulmonary hypoplasia. Alternative terms for this syndrome used in the literature include fetal hypokinesia syndrome, lethal congenital contracture syndrome, and Pena-Shokier syndrome type I. The etiology for the early cases was attributed to neuromuscular disease, with deformations owing to weakness or paralysis of the motor unit. An abnormality of spinal cord motoneurons has been postulated in some cases. Pena-Shokier phenotype can also result from blockade of the neuromuscular junction, as shown by recent observations with women expressing antibodies against the fetal acetylcholine receptor. It has been shown that the Pena-Shokier phenotype may result from intrauterine cerebral dysfunction as well, including acquired brain insults and congenital brain malformations. The ultimate prognosis for children with this disorder is dependent on the underlying etiology and the severity of pulmonary disease. The authors report a fatal case of Pena-Shokier phenotype with congenital polymicrogyria. To our knowledge, the case presented is the first reported Pena-Shokier phenotype associated with this type of brain malformation. ( J Child Neurol 2002;17:397-399).
Cerebral Aneurysms in a Child With Acquired Immune Deficiency Syndrome During Rapid Immune Reconstitution
Authors: Bonkowsky Joshua L. , Christenson John C. , Nixon G. William , Pavia Andrew T.
Published: March 2008

A 12-year-old boy with perinatally acquired human immunodeficiency virus infection and Centers for Disease Control and Prevention class C3 disease presented with acute onset of confusion and a right-sided movement disorder 5 months after beginning a new antiretroviral regimen. His CD4 count had been below 50 cells/μL for 4 years but had abruptly risen to more than 250 cells/μL. Computed tomographic and magnetic resonance imaging scans showed cerebral aneurysms and new cerebral lesions consistent with ischemic strokes. The presentation during immune reconstitution suggests that cerebral aneurysms in pediatric patients with acquired immune deficiency syndrome can result from an immune-mediated response to chronic vascular infection. (J Child Neurol 2002;17:457-460).
Anticoagulation Therapy in Cerebral Sinovenous Thrombosis and Ulcerative Colitis in Children
Authors: Kao Amy , Dlugos Dennis , Hunter Jill V. , Mamula Petar , Thorarensen Olafur
Published: March 2008

We describe four pediatric patients with ulcerative colitis and cerebral sinovenous thrombosis and review the pediatric and adult literature on the treatment of sinovenous thrombosis. All of our patients had headache as the initial complaint with onset during an ulcerative colitis flare. Evaluation for hypercoagulable states revealed heterozygosity for prothrombin gene mutation and increased homocysteine level in one patient and mild elevation of anticardiolipin antibodies in two patients. Treatment in the acute period included thrombolysis, heparin, and low-molecular-weight heparin. Chronic therapy included warfarin, low-molecular-weight heparin, and aspirin. Peripheral vein thrombosis occurred in two patients while not on antiplatelet or anticoagulation therapy. Neurologic outcome was positive in this series without complications of therapy, suggesting that aggressive therapy should be considered. Although anticoagulation therapy of sinovenous thrombosis is controversial, particularly in the context of intestinal hemorrhage, it can be beneficial given the possibility of an ongoing hypercoagulable state. (J Child Neurol 2002;17:479-482).
A Case of Acute Disseminated Encephalomyelitis Presenting Hypersomnia With Decreased Hypocretin Level in Cerebrospinal Fluid
Authors: Kubota Hiroaki , Kanbayashi Takashi , Tanabe Yuzo , Kohno Yoichi
Published: March 2008

A 12-year-old girl was diagnosed as having acute disseminated encephalomyelitis and manifested hypersomnia as the main clinical feature. Magnetic resonance imaging (MRI) revealed lesions in the bilateral hypothalamus in addition to other multifocal brain lesions involving the cerebral white matter, brain stem, and basal ganglia. The level of hypocretin in cerebrospinal fluid was decreased in this patient. Corticosteroid treatment resulted in improvement of the hypersomnia and resolution of MRI lesions in the hypothalamus and other regions. This case suggests that the arousal state control mechanism related to the hypocretin peptide/receptor system may be impaired in some patients with acute disseminated encephalomyelitis. (J Child Neurol 2002;17:537-539).