bluuebunny/crossref_metadata_2025 huggingface dataset:
Cerebral Tumors in Children Presenting With Epilepsy
Authors: Williams B.A. , Abbott K.J. , Manson J.I.
Published: December 2008

The records of 20 children with seizures who had cerebral tumor confirmed histologically between 1979 and 1989 have been reviewed. These patients represented 2.9% of all children presenting with seizures. Forty percent were aged 15 months or younger, all of whom presented with partial seizures. Initial misdiagnosis of seizures occurred in 25% of these infants. Examination was normal in 75% of the study group. Behavior disturbance was present in 50%, with deterioration occurring in 60% of these. Electroencephalograms revealed focal abnormalities in 62% and generalized abnormalities in 25% when performed. Cranial ultrasound was performed in two cases, with false-negative results. Computed tomographic scan findings were not diagnostic of tumor in 40%. Magnetic resonance imaging confirmed the presence of tumor in all children in whom it was performed. Tumors most frequently involved the temporal lobes (55%) and the frontal lobes (40%). Surgical intervention resulted in considerable improvement in seizure control in 75%. Surgery is useful in the control of tumor-related seizures and should be considered early in the treatment of this disorder. Suspicion of tumor should increase when seizures are partial or refractory, particularly if intelligence and physical examination are normal or if there is progressive deterioration in behavior. The most appropriate type of brain imaging is magnetic resonance imaging scan. (J Child Neurol 1992;7:291-294).
Atypical Presentations of Spinal Cord Tumors in Children
Authors: Robertson Patricia L.
Published: December 2008

Pain is a frequent presenting symptom of spinal cord tumors in children and usually manifests as local spinal pain in the bony segments overlying the tumor. Two pediatric patients are presented in whom the diagnosis of intramedullary spinal cord tumors was delayed for many months because their pain was atypical. One had recurrent abdominal pain diagnosed as irritable bowel syndrome. The other had very abrupt paroxysmal but infrequent attacks of arm pain and no neurologic abnormalities. Possible mechanisms of their pain, as well as the other features that might have suggested the diagnosis, are discussed. (J Child Neurol 1992;7:360-363).
Nonprogressive Type II Hereditary Sensory Autonomic Neuropathy: A Homogeneous Clinicopathologic Entity
Authors: Ferrière Gerard , Guzzetta Francesco , Kulakowski Sophie , Evrard Philippe
Published: December 2008

Two different clinical subtypes were previously identified within hereditary sensory autonomic neuropathy (HSAN) type II: a stable congenital form and a progressive one. This paper discusses two clinicopathologic cases of nonprogressive HSAN type II with morphometric correlations. In addition, a retrospective literature search was carried out to locate other cases where an accurate histologic examination, including ultrastructural features, was available in order to relate clinical and pathologic aspects of the disease. The combined data support the individualization of this neuropathic form as a homogeneous disease, as has been suggested during the last century and underline the clinical importance of this concept for the prognosis and investigation of sensory, auditory, autonomic, and motor functions in children with sensory neuropathies. (J Child Neurol 1992;7:364-370).
Rostral Transfontanel Herniation
Authors: Gay Charles T. , Kagan-Hallet Kathleen S.
Published: December 2008

Upward transtentorial herniation as a result of mass effect in the posterior fossa has been described in adults by several authors. We report the case of a premature infant, small for gestational age, who experienced rostral herniation of a portion of frontal lobe through the anterior fontanel as the result of a hemorrhagic cerebellar infarction followed by a large parieto-occipital intracerebral hemorrhage. ( J Child Neurol 1992;7:392-394).
Alterations of Urinary Acetylcarnitine in Valproate-Treated Rats: The Effect of L-Carnitine Supplementation
Authors: Murakami Kiyotaka , Sugimoto Tateo , Nishida Naoki , Woo Man , Araki Atsushi , Kobayashi Yohnosuke
Published: December 2008

Urinary excretion of acetylcarnitine was measured by high-performance liquid chromatography in two experimental groups of valproate-treated rats. In the urine of mature rats weighing 180 to 200 g treated with valproate (500 mg/kg/day), acetylcarnitine levels were higher than those in controls on days 4 and 7, while L-carnitine-supplemented rats showed lower levels than the valproate group. The valproate-treated rats showed an increased acetylcarnitine/acylcarnitine ratio on and after day 4, while the L-carnitine-supplemented rats showed no significant change compared to the controls on any days. In the urine of immature rats weighing 80 to 90 g treated with valproate (50 mg/kg/day), acetylcarnitine levels were increased after the 14th day of treatment.

These results suggest that an increase in urinary acetylcarnitine occurs when small doses of valproate are administered for a longer time. We speculate that increased acetylcarnitine is not a product of β-oxidation in mitochondria, because L-carnitine supplementation decreases the acetylcarnitine levels. Although the mechanism of acetylcarnitine excretion during valproate administration is not clear, L-carnitine supplementation is effective in decreasing the level of urinary acetylcarnitine and keeping the acetylcarnitine/acylcarnitine ratio normal. (J Child Neurol 1992;7:404-407).
Abnormal Behavioral Patterns in the Human Fetus at Term: Correlation with Lesion Sites in the Central Nervous System after Birth
Authors: Koyanagi Takashi , Horimoto Naoki , Maeda Hirotaka , Kukita Joji , Minami Taketsugu , Ueda Kohji , Nakano Hitoo
Published: December 2008

We describe three fetuses at term that demonstrated abnormal behavioral patterns in utero when observed using real-time ultrasound. The abnormal patterns turned out to have neurologic correlations after birth. In case 1, despite a normal breathing pattern, no movement in any of the four extremities was observed, thus suggesting the existence of a spinal cord lesion at the rostral end, located at C4 or C5. In case 2 a lack of breathing movement was noted repeatedly, together with the abnormal finding that alternation of periods of rapid eye movement (REM) sleep with those of non-rapid eye movement (NREM) sleep was not present. These findings implied a lesion involving the pons and/or medulla oblongata. In case 3 movement of the four extremities, breathing movement, and alternating periods of REM sleep and NREM sleep were found to be within the normal range. The concurrence of regular mouthing and the NREM sleep period was not observed, however, suggesting impairment in the brain function responsible for NREM sleep located from the pons through the thalamocortical connection to the cerebral hemisphere. (J Child Neurol 1993;8:19-26).
Brain-Stem Encephalitis Caused by Epstein-Barr Virus
Authors: North Kathryn , de Silva Lakshman , Procopis Peter
Published: December 2008

A case of brain-stem encephalitis with strong serologic evidence of acute Epstein-Barr virus infection is described. Recovery was rapid without treatment, but mild neurologic sequelae were seen at 6-month follow-up. Epstein-Barr virus infection in childhood may be asymptomatic and heterophil antibody negative. Encephalitis is an unusual but well-recognized complication of Epstein-Barr virus infection, but localized brain-stem involvement, to our knowledge, has not been previously described. (J Child Neurol 1993;8:40-42).
Some Placental Considerations Related to Neurodevelopmental and Other Disorders
Authors: Altshuler Geoffrey
Published: December 2008

Many newborns who appear normal at birth later manifest substantial neurologic and other disease. Pathologists are able to explain some of that sad enigma. Placental pathology frequently reveals the pathogenesis of cerebral palsy, mental retardation, and other neurodevelopmental disorders. This requires recognition of gross placental abnormalities and insightful light microscopic examination. Chorioamnionitis is now proven to be the major cause of premature onset of labor and prematurity. There is important need for investigation of pathogenetic processes associated with ascending intrauterine infection. Major complications therein include bacterially mediated fetal hypoperfusion resulting from placental and umbilical vasocontraction. Placentas of 10% of newborns have villitis of unknown etiology. The importance of villitis is incompletely known. The fetus may discharge meconium on more than one occasion, particularly so when the fetus is postmature. Clinicians may not recognize that fetal discharge has occurred if the event occurred 4 days or more prior to delivery. Intra-amniotic meconium associated with oligohydramnios probably causes placental and umbilical vasocontraction. Meconium probably thus contributes to the pathogenesis of pulmonary vasoconstriction, persistent fetal circulation, necrotizing enterocolitis, and damage of the fetal brain, liver, and kidneys. Fetal hypoxia and asphyxia may be acutely or chronically acquired. Major placental lesions associated with neonatal asphyxia include chronic ischemic change, nucleated red blood cells, intravillous hemorrhages, intimal vascular fibrin cushions, meconium staining, and intervillous fibrin. (J Child Neurol 1993;8:78-94).
Brainstem and Cerebellar Vermis Involvement in Autistic Children
Authors: Hashimoto Toshiaki , Tayama Masanobu , Miyazaki Masahito , Murakawa Kazuyoshi , Kuroda Yasuhiro
Published: December 2008

Recent reports have suggested functional abnormalities of the brain stem in autistic children, and structural abnormalities have also been reported. We obtained magnetic resonance imaging (MRI) scans for 21 autistic children and compared them with 21 control MRI scans. The areas of the brain stem and cerebellar vermis were measured using midsagittal images. The brain stem and cerebellar vermis lobules VIII to X were found to be significantly smaller in autistic children. A positive correlation between the size of the brain stem and cerebellar vermis was observed in the autistic children. This correlation was not observed in the control children. This suggests that the size of the brain stem and cerebellar vermis are anatomically altered in autistic children and that growth of the brain stem and cerebellar vermis in autistic children is different from normal children. ( J Child Neurol 1992;7:149-153).
Neoplastic Meningitis as the Presentation of Occult Primitive Neuroectodermal Tumors
Authors: Jennings Mark T. , Slatkin Neal , D'Angelo Marc , Ketonen Leena , Johnson Mahlon D. , Rosenblum Marc , Creasy Jeffrey , Tulipan Noel , Walker Russell
Published: December 2008

Seven children and young adults initially presented with subacute meningitis and/or increased intracranial pressure. The diagnosis of neoplastic meningitis secondary to a primitive neuroectodermal neoplasm was delayed by the absence of an obvious primary tumor. The neuroradiologic appearance was that of a basimeningeal infiltrative process, complicated by communicating hydrocephalus or "pseudotumor cerebri." Myelography was important in the diagnosis of disseminated meningeal malignancy in four cases. Cerebrospinal fluid cytologic diagnosis was insensitive but ultimately confirmed in five cases. All seven patients experienced progressive disease despite neuraxis radiotherapy and intensive chemotherapy; six have died. Systemic dissemination to bone and/or peritoneum occurred in three patients while on therapy. In two, a primary parenchymal brain or spinal cord tumor could not be identified at postmortem examination. The presentation of a primitive neuroectodermal tumor as subacute meningitis without an evident primary tumor heralds an aggressive and refractory neoplasm. (J Child Neurol 1993;8:306-312).
A Reversible Case of Klüver-Bucy Syndrome in Association With Shigellosis
Authors: Guedalia Judith S. B. , Zlotogorski Zoli , Goren Avner , Steinberg Abraham
Published: December 2008

The Klüver-Bucy syndrome is characterized by psychic blindness or visual agnosia, blunted affect, hypermetamorphosis, hyperorality, bulimia, and sexual behavioral alterations. To date, there have been fewer than 10 reported cases of Klüver-Bucy syndrome in children, most of them irreversible. We describe here a reversible case of the complete Klüver-Bucy syndrome in a child suffering from Shigella encephalopathy. (J Child Neurol 1993;8:313-315).
Early Maturation of Motor-Delayed Children at School Age
Authors: Blondis Thomas A. , Snow Jeffrey H. , Roizen Nancy J. , Opacich Karin J. , Accardo Pasquale J.
Published: December 2008

Children underwent motor and sensory testing during each of 3 consecutive years beginning at kindergarten entrance. Children were assigned to either a motor-normal or motor-delayed group based on results from testing during the 1st year of the study. Motor-normal subjects (n = 17) had standard scores on a global motor-sensory test that fell within one standard deviation of the mean. Motor-delayed subjects (n = 12) had a global motor-sensory test standard score indicating greater than one standard deviation of motor delay and, in addition, were delayed by a minimum of one standard deviation on four of five of the motor-sensory test subtests. At the conclusion of the 3-year study, the mean standard score of the motor-delayed group remained greater than one standard deviation below the performance of the motor-normal group as measured by the global motor-sensory test. Statistical analysis using repeated measures analysis of variance indicated that the motor-delayed group made gains but did not close the gap between themselves and the motor-normal group during the 3-year study. Group x time interaction effects showed that during the study, significant gain was made by the motor-delayed group on the motor coordination subtest of the motor-sensory test. The study supports the conclusion that motor-delayed children without early intervention fail to outgrow their motor delays by age 8 years. (J Child Neurol 1993;8:323-329).
Neurophysiologic Study of β-Thalassemia Patients
Authors: Wong V. , Li A. , Lee A.C.W.
Published: December 2008

Neurophysiologic investigations were performed in 34 Chinese patients with β-thalassemia major maintained on long-term desferrioxamine treatment to look for subclinical toxicity in the auditory, visual, peripheral, or central neural pathways. In the auditory pathway study, four patients (12%) had mild sensorineural hearing impairment. Two patients (6%) had increased P 100 latencies in the visual evoked potential study, and nine patients (26%) had abnormal electroretinogram results. All had normal electrooculograms. Ophthalmoscopic examination was abnormal in three patients (9%), and three (9%) had a visual field defect. In the peripheral or central nervous pathways, seven patients (21%) had sensory neuropathy, of which three cases were probably related to diabetes mellitus. All had normal motor conduction velocities. Four patients (12%) had increased cortical latencies of median or posterior tibial somatosensory evoked potential. Abnormalities in multiple neural pathways were seen in four patients (12%). There was a significant association between subclinical toxicity to the peripheral or central nervous systems and serum ferritin level (P < .03) and the presence of diabetes mellitus (P < .002). There was no significant relationship between the age, dosage, or duration of desferrioxamine used and the increased risk of neurotoxicity to the auditory, visual, peripheral, or central nervous systems. There was also no association between the risk of neurotoxicity and the serum zinc, copper, or fructosamine levels. (J Child Neurol 1993;8:330-335).
Neurofibromatosis Type 1: Review of the First 200 Patients in an Australian Clinic
Authors: North Kathryn
Published: December 2008

Neurofibromatosis type 1 is a common multisystem disorder, best managed in a multidisciplinary clinic. In 1991, the first Australian neurofibromatosis clinic was established at the Children's Hospital, Camperdown, and the clinical characteristics of the first 150 families are reviewed.

Two hundred individuals were assessed; there was an equal sex distribution, and 55% of cases were sporadic. Advanced paternal age appeared to predispose to new mutations in the neurofibromatosis gene. Café-au-lait spots and axillary freckling were important to the diagnosis of neurofibromatosis type 1 during childhood, and neurofibromas and Lisch nodules, although often not appearing until after puberty, were present in almost all patients over 30 years of age. Short stature (27%), macrocephaly (43%), scoliosis (20.5%), and learning disabilities (45%) were common associated features. The prevalence of disease complications was similar to the major US and European studies. (J Child Neurol 1993;8:395-402).
Turner Syndrome and Occlusion of the Internal Carotid Artery
Authors: Komori Hironori , Matsuishi Toyojiro , Abe Toshi , Nagata Yoichi , Ohtaki Etsuo , Kojima Kazuyuki , Yukizane Shigenori
Published: December 2008

A 2-year-old girl with Turner syndrome was admitted with left hemiplegia and left facial palsy. Serial cranial computed tomographic scan demonstrated multiple cerebral infarctions in the right putamen and right medial cortical areas. Single photon emission computed tomographic scan revealed hypoperfusion from the right frontal to the right temporal area. Right carotid angiography showed narrowing and occlusion of the right internal carotid artery at the sphenoidal portion. Collateral circulation was not detected between the external and internal carotid arteries. Left carotid angiography revealed that the left anterior artery was narrow, and that the left internal carotid artery provided blood to the right internal carotid artery through the anterior communicating artery. These findings suggested that the cerebrovascular abnormality might be due to congenital hypoplasia of arteries in this patient. The unusual combination of cerebral infarction and Turner syndrome was reported. ( J Child Neurol 1993;8:412-415).
Topical Review: Pediatric Syringomyelia
Authors: Gower David J. , Pollay Michael , Leech Richard
Published: December 2008

Syringomyelia was first recognized as a disease process some 400 years ago. The process of cystic dilation of the spinal cord is unpredictable and may result in a delay of many decades before the symptoms and signs of neurologic and orthopedic changes become apparent and commensurate with the observed cystic changes within the spinal cord. The syringomyelic process is usually associated with trauma, tumor, or congenital abnormalities at the craniocervical junction or along the spinal neuraxis. Several theories have been proposed as to processes involved in the development of spinal cyst formation, although none are completely compatible with the observed clinical pathology of syrinx development. Magnetic resonance imaging has markedly improved our ability to study the anatomy and natural history of syrinx formation, but to date, our understanding of the process remains imprecise. In view of the limited understanding of the pathophysiology of this disease process, it is not surprising that a variety of treatment regimens have been proposed and their efficacy remains difficult to fully evaluate. (J Child Neurol 1994;9:14-21).
Hypoplasia of the Corpus Callosum: A Study of 445 Consecutive MRI Scans
Authors: Bodensteiner John , Schaefer G.B. , Breeding Lisa , Cowan Linda
Published: December 2008

The size of the corpus callosum was assessed visually and by computer-assisted image analysis in a series of 445 consecutive magnetic resonance imaging (MRI) scans in children under 17 years of age. Fifty individuals were subjectively identified with small corpora callosa on visual inspection of the MRI scans. Seven patients had true hypoplasia of the corpus callosum after comparing the computer-measured relative size of the structure to previously established normal values. Five additional patients had complete agenesis, and two had partial agenesis of the corpus callosum. The cognitive functional levels of the seven patients with callosal hypoplasia and a control group of 63 randomly selected individuals from the remainder of the group were ascertained by record review. Seventy-one percent of the patients with hypoplasia of the corpus callosum and 29% of the control group had impaired function. The P value determined by Fisher's exact test was P = .061, suggesting that further study with greater numbers may be warranted. The prevalence of mental retardation in this condition, and the fact that hypoplasia is as common as complete and partial agenesis of the corpus callosum combined, suggest that hypoplasia of the corpus callosum is a marker of cerebral dysgenesis that should be looked for in the appropriate clinical setting. (J Child Neurol 1994;9:47-49).
Leigh Syndrome: Pyruvate Dehydrogenase Defect. A Case With Peripheral Neuropathy
Authors: Chabrol B. , Mancini J. , Benelli C. , Gire C. , Munnich A.
Published: December 2008

Pyruvate dehydrogenase deficiency is one of the most common causes of encephalopathy associated with lactic acidosis and is known to account for congenital lactic acidosis, recurrent ataxia, and infantile Leigh syndrome. Hitherto, however, peripheral neuropathy has not been regarded as a presenting symptom of pyruvate dehydrogenase deficiency. Here, we report on a boy who presented peripheral neuropathy with severe limb hypotonia, absent deep-tendon reflexes, and reduced motor nerve conduction velocities at 8 months of age. Persistent hyperpyruvicemia with normal lactate/pyruvate molar ratios in plasma were highly suggestive of a pyruvate dehydrogenase deficiency, and the determination of pyruvate dehydrogenase activity in circulating lymphocytes led to the diagnosis of pyruvate decarboxylase (PDH-E1) deficiency in the proband. Based on this observation, we suggest that pyruvate dehydrogenase deficiency should be considered in the diagnosis of peripheral neuropathy in infancy, especially when associated with persistent hyperpyruvicemia, normal lactate/pyruvate molar ratios in plasma, and recurrent episodes of drowsiness and hypotonia of unknown origin. (J Child Neurol 1994;9:52-55).
Head Circumference Standards in Neonates
Authors: Raymond Gerald V. , Holmes Lewis B.
Published: December 2008

Head circumference at birth is an important measure of intrauterine growth, reflecting accurately brain growth and predicting subsequent development. Standards need to reflect the population and the factors that affect intrauterine growth in the population and must be constructed in a manner that is clinically useful and predictive. Many of the present standards used to assess newborn infants are inadequate because of the limitations of sample size and study design. As a result, the current standards are not adequate for premature infants below 30 weeks of gestation and, in newborns from later in gestation, may underreport significant deviations from the mean in certain situations. (J Child Neurol 1994;9:63-66).
Neuroaxonal Dystrophy at Birth With Hypertonicity and Basal Ganglia Mineralization
Authors: Venkatesh Swamy , Coulter David L. , Kemper Thomas D.
Published: December 2008

A full-term male infant exhibited rigidity of all extremities with hyperreflexia beginning soon after birth and lasting until his death at age 6 months. Head circumference remained at the 25th to 50th percentile. Distinct sleep-wake cycles and responsiveness to visual, auditory, and tactile stimuli developed. Metabolic studies, skin biopsy, electroencephalography, and electromyography produced normal results. Head computed tomographic and magnetic resonance imaging scans revealed mineralization of the basal ganglia and thalamus. Muscle and nerve biopsy results were consistent with axonal dystrophy. Autopsy showed widespread neuronal loss, with reactive gliosis, marked in the globus pallidus and brainstem reticulate core; spheroids in globus pallidus, nucleus cuneatus, and upper cervical cord; and mineralized neurons in the inner division of globus pallidus and thalamus. Neonatal hypertonia, rapid progression, and mineralization of the basal ganglia are unusual features of neuroaxonal dystrophy exhibited in this case. (J Child Neurol 1994;9:74-76).
Dissociation Between Delayed Alternation and Memory After Pediatric Head Injury: Relationship to MRI Findings
Authors: Levin Harvey S. , Culhane Kathleen A. , Fletcher Jack M. , Mendelsohn Dianne B. , Lilly Matthew A. , Harward Harriet , Chapman Sandra B. , Bruce Derek A. , Bertolino-Kusnerik Lori , Eisenberg Howard M.
Published: December 2008

This study investigated the usefulness of a delayed alternation task in characterizing the cognitive sequelae of closed head injury in children and adolescents. Verbal learning and memory (California Verbal Learning Test) were also studied for comparison. Sixty-two closed head injury patients (mean age, 9.6 years), who were studied after an average postinjury interval of 20 months, were divided according to both their lowest postresuscitation Glasgow Coma Scale score (3 to 8 versus 9 to 15) and age range (5 to 7 years versus 8 to 16 years) at the time of testing. Magnetic resonance imaging was performed to evaluate the relationship of focal brain lesions to cognitive and memory performance. Fifty-six neurologically normal children (mean age, 9.9 years) were tested on the same measures. The results disclosed no relationship between delayed alternation performance and severity of injury. In contrast, verbal memory was impaired in the severely-injured patients, relative to both controls and less severely-injured patients. Frontal lobe (but not extrafrontal) lesion size incremented the Glasgow Coma Scale score in predicting verbal memory, but there was no relationship between focal brain lesions and delayed alternation performance. In contrast to the tendency for more efficient delayed alternation performance in the 5- to 7-year-old subjects than in the 8- to 16-year-old subjects, verbal memory significantly improved with age in the closed head injury and control groups. Notwithstanding our essentially negative findings for delayed alternation, it is possible that this task may be useful for assessing frontal lobe injury in younger children or infants. Our results indicate limitations in extrapolating from nonhuman primate studies of delayed alternation to frontal lobe function in children and adolescents. (J Child Neurol 1994;9:81-89).
Familial Adrenal Insufficiency, Achalasia, Alacrima, Peripheral Neuropathy, Microcephaly, Normal Plasma Very Long Chain Fatty Acids, and Normal Muscle Mitochondrial Respiratory Chain Enzymes
Authors: Tsao Chang Y. , Romshe Carolyn A. , Lo Warren D. , Wright Francis S. , Sommer Annemarie
Published: December 2008

Adrenal insufficiency has been associated with adrenoleukodystrophy and adrenomyeloneuropathy. In these diseases, plasma very long chain fatty acids are elevated. Peripheral neuropathy is frequently seen in adults with adrenomyeloneuropathy. We encountered two first cousins with adrenal insufficiency, who also developed peripheral neuropathy, achalasia, alacrima, and microcephaly. However, plasma very long chain fatty acids, pipecolic acid, phytanic acid, and cranial computed tomographic scan were normal. Muscle mitochondrial respiratory chain enzymes were also normal. This syndrome of adrenal insufficiency, achalasia, alacrima, microcephaly, and peripheral neuropathy is different from either adrenomyeloneuropathy or adrenoleukodystrophy. ( J Child Neurol 1994;9:135-138).
Holocarboxylase Synthetase Deficiency: A Treatable Metabolic Disorder Masquerading as Cerebral Palsy
Authors: Livne Mosheh , Gibson K. Michael , Amir Naomi , Eshel Gideon , Elpeleg Orly N.
Published: December 2008

A 20-month-old boy of Jewish-Turkish origin presented with severe metabolic acidosis. He was born prematurely and had bacteremia during the neonatal period. Scaly skin eruption, developmental delay, generalized muscular hypertonia, and mild ventriculomegaly were noted during the 1st year. Holocarboxylase synthetase deficiency was diagnosed, and biotin and carnitine were administered. The skin rash and the organic aciduria resolved within several days, and at 30 months, his psychomotor development was appropriate for age. Metabolic evaluation should be performed in patients with combined neurologic and dermatologic symptoms even when medical history suggests a nonmetabolic etiology. (J Child Neurol 1994;9:170-172).
Adrenoleukodystrophy: Cortical Hypoperfusion Demonstrated With 99mTc-HMPAO SPECT
Authors: Al Suhaili Abdul Rahim , Hertecant Jozef , Sztriha László
Published: December 2008

Regional cerebral blood flow was investigated in an 8-year-old boy with adrenoleukodystrophy by single photon emission computed tomography. The use of 99mTc-hexamethylpropylene amine oxime revealed markedly reduced blood flow in the occipital, parietal, and temporal cortical gray matter, in addition to the anticipated reduction in white matter. The area with a decreased blood flow was more extensive than that detected by x-ray computed tomography. (J Child Neurol 1994;9:284-286).
Efficacy of Thyrotropin-Releasing Hormone in the Treatment of Spinal Muscular Atrophy
Authors: Takeuchi Yoshihiro , Miyanomae Yuri , Komatsu Hiroshi , Oomizono Yoshikazu , Nishimura Akira , Okano Sozo , Nishiki Tetuo , Sawada Tadashi
Published: December 2008

Children with spinal muscular atrophy were treated by the administration of thyrotropin-releasing hormone. In three infants with spinal muscular atrophy type I, thyrotropin-releasing hormone showed little efficacy, but in children with types II and III, there was improvement in motor function and electromyographic findings after the thyrotropin-releasing hormone therapy. Thyrotropin-releasing hormone has a neurotrophic effect on the spinal anterior motor neurons of spinal muscular atrophy patients and thus may be warranted for the management of spinal muscular atrophy. (J Child Neurol 1994;9:287-289).
Asymmetric Hypsarrhythmia and Infantile Spasms in West Syndrome
Authors: Donat Jane F. , Lo Warren D.
Published: December 2008

The video encephalograms (EEGS) of 77 consecutive infantile spasms patients were evaluated for the presence of focal or asymmetric hypsarrhythmia and infantile spasms, to determine whether these findings were useful in predicting the presence of focal structural brain disease and were of any additional diagnostic or prognostic significance. Of the 77 patients with infantile spasms, 38% had focal or lateralized features present on video-EEG studies. Unilateral hypsarrhythmia and asymmetric ictal EEG changes during infantile spasms often occurred together: each always indicated the side of a focal or asymmetric structural cerebral lesion that was visible on computed tomographic or magnetic resonance imaging brain scan and was usually large. Clinically asymmetric infantile spasms were less common, always occurred in the presence of asymmetric ictal EEG changes, and did not appear to have additional localizing value. Lateralized hypsarrhythmia, with or without asymmetric infantile spasms, occurred in the presence of bilateral structural lesions that were more abnormal in the area of the greater EEG abnormality. Partial seizures also indicated symptomatic etiologies but were less localizing to visible focal lesions. Patients with symmetric hypsarrhythmia and infantile spasms rarely had focal/lateralized lesions visible on imaging studies. Although the majority of the symmetric group had structural brain disease, these brain lesions were diffuse, not lateralized. This group also included all patients who had cryptogenic etiology and normal development. (J Child Neurol 1994;9:290-296).
Idiopathic Hypothalamic Dysfunction With Dilated Unresponsive Pupils: Report of Two Cases
Authors: North Kathryn N. , Ouvrier Robert A. , McLean Catriona A. , Hopkins Ian J.
Published: December 2008

Idiopathic hypothalamic dysfunction is a rare but well-defined entity in childhood characterized by adipsia-hypernatremia, obesity, poor thermoregulation, and disturbance of pituitary function. Two cases of idiopathic hypothalamic dysfunction are described. There are 10 previously reported cases in the literature, and the clinical features are compared. The present cases are unique in that the patients also had bilaterally dilated unresponsive pupils. In the first case, there was no demonstrable pathology at autopsy; in the second case, lymphocytic infiltration of the hypothalamus and midbrain associated with neuronal loss was present at autopsy. Possible etiologies are discussed. (J Child Neurol 1994;9:320-325).
Acute Childhood Ataxia: 10-Year Experience
Authors: Gieron-Korthals Maria A. , Westberry Karen R. , Emmanuel Patricia J.
Published: December 2008

Forty cases of acute childhood ataxia were retrospectively assessed for main etiologies and for factors that can be used in planning the most effective and cost-efficient management. The most common discharge diagnoses were acute cerebellar ataxia, ingestion, and Guillain-Barré syndrome, encompassing 80% of all cases. The remaining 20% included various isolated causes. Acute cerebellar ataxia was primarily seen in children less than 6 years of age who had preceding viral syndromes or varicella. Ingestions were also most frequent in children less than 6 years of age, but a second peak occurred in adolescents. History was suggestive of drug ingestion in 61.5% of cases, and in addition to ataxia, lethargy was an associated symptom. The drug screen was the most informative laboratory test, with 17 of 35 being positive. Lumbar punctures were positive in seven of 25, with pleocytosis in six and elevated protein in two. Of 26 computed tomographic scans and magnetic resonance imaging scans performed, only two were positive, one for cerebellar infarct and one for cerebral edema. Acute ataxia in childhood has multiple etiologies, but it is usually due to a benign, self-limited process. A thorough history, physical examination, and drug screen should be performed before other costly and invasive tests and before admission to the hospital. This approach may eliminate the need for hospitalization of some patients with postinfectious acute cerebellar ataxia and ingestion. Neuroimaging studies should be used judiciously in the evaluation of acute ataxia, considering their low yield. (J Child Neurol 1994;9:381-384).
Accessory Brains (Extracerebral Heterotopias): Unusual Prenatal Intracranial Mass Lesions
Authors: Harris Cheryl P. , Townsend Jeannette J. , Klatt Edward C.
Published: December 2008

Prenatal ultrasonographic evidence of intracranial mass lesions generally results in a diagnosis of primary glial or primitive neuroectodermal neoplasm. We describe two infants, one who was stillborn at 25 weeks' estimated gestational age and one term infant who was born live and died shortly after birth with large intracranial space-occupying lesions that exerted significant mass effect. At autopsy, large soft-tissue spheres of partially organized brain tissue containing neurons, astrocytes, oligodendroglia, ependyma, and choroid plexus were found adjacent to intact, fully formed cerebral hemispheres with normal brain stems and cerebelli within the cranial cavity. We have termed these extracerebral heterotopias "accessory brains." The telencephalic vesicles arise as lateral outpouchings at the rostral end of the developing embryo during the 5th week of embryogenesis. These accessory brains may arise embryologically from an accessory third evagination inferior to the telencephalic vesicles. (J Child Neurol 1994;9:386-389).
Psychogenic Seizures in Children: Long-Term Analysis of 43 Cases
Authors: Lancman Marcelo E. , Asconapé Jorge J. , Graves Susan , Gibson Patricia A.
Published: December 2008

Forty-three patients exhibiting psychogenic seizures with onset before the age of 16 years were studied. All patients underwent intensive electroencephalography and video-electroencephalography monitoring. Thirty-two were female and 11 male. Mean age of the population at seizure onset was 12.4 years (range, 5 to 16 years). Twenty-one patients (48.8%) were taking anticonvulsants. Neurologic past history was abnormal in nine cases. Family history of epilepsy was found in 15 cases (34.9%). Median seizure frequency was one seizure every 5 days. Clinical characteristics of the seizures varied. However, unresponsiveness with generalized violent and uncoordinated movements involving the whole body (n = 19) or with generalized trembling (n = 11) were the most common features. Neuropsychological testing, carried out in 22 cases, failed to show major abnormalities in most of the cases. Significant personal and family distress was found in most of the cases. An important impact on patient's quality of life was evident when the seizures were present as compared to the seizure-free periods. There were no statistically significant predictors of clinical outcome. (J Child Neurol 1994;9:404-407).
Gliomatosis Cerebri Presenting as Intractable Epilepsy During Early Childhood
Authors: Jennings Mark T. , Frenchman Meghana , Shehab Thomas , Johnson Mahlon D. , Creasy Jeffrey , LaPorte Kazel , Dettbarn Wolf D.
Published: December 2008

We review 160 cases of gliomatosis cerebri from the literature and report an additional three infants and young children who presented with intractable epilepsy, corticospinal tract deficits, and developmental delay in whom a pathologic diagnosis was made. The progressive nature of the encephalopathy in our cases was documented by serial clinical examination, electroencephalograms, magnetic resonance imaging, and positron emission tomographic scans. The natural history of gliomatosis cerebri was determined by a retrospective review of the literature of 160 cases in 85 reports. The most common neurologic symptoms and signs included corticospinal tract deficits (58%), dementia/mental retardation (44%), headache (39%), seizures (38%), cranioneuropathies (37%), increased intracranial pressure (34%), and spinocerebellar deficits (33%). The most commonly involved central nervous system structures were the centrum semiovale and cerebrum (76%), mesencephalon (52%), pons (52%), thalamus (43%), basal ganglia (34%), and the cerebellum (29%). Fifty-two percent of patients were dead within 12 months of onset. Different grades of glial neoplasm may also coexist within gliomatosis cerebri such as astrocytoma with anaplastic astrocytoma, atypical or anaplastic oligodendroglioma, and glioblastoma multiforme. Hypotheses regarding the pathogenesis of gliomatosis cerebri include blastomatous dysgenesis, diffuse infiltration, multicentric origin, in situ proliferation, and "field transformation." The biologic determinants of whether a transformed glial cell behaves as a relatively localized tumor mass or truly loses anchorage dependence to become migratory as well as proliferative are not understood. (J Child Neurol 1995;10:37-45).
The Use of Felbamate to Treat Infantile Spasms
Authors: Hurst Daniel L. , Rolan Terry D.
Published: December 2008

Based on the initial successful use of felbamate for infantile spasms in an infant with tuberous sclerosis, three additional infants with infantile spasms of different etiologies who had failed conventional therapies were treated with felbamate. Three of the four patients have shown complete resolution of infantile spasms. All responding patients did so within 1 week of starting felbamate. The one treatment failure had an initial reduction of seizure frequency and severity but has not maintained that response long term. Controlled studies are needed to firmly establish that felbamate is both safe and effective for the treatment of infantile spasms. As these cases document, felbamate is currently available for use in infantile spasms, and the frequent conversion of infantile spasms to Lennox-Gastaut syndrome, for which felbamate is approved, makes its use in infantile spasms logical. (J Child Neurol 1995;10:134-136).
D-2-Hydroxyglutaric Aciduria
Authors: Nyhan William L. , Shelton G. Diane , Jakobs Cornelis , Holmes Bonnie , Bowe Constance , Curry Cynthia J.R. , Vance Carol , Duran Marinus , Sweetman Lawrence
Published: December 2008

Hydroxyglutaric aciduria is detected by gas chromatographic-mass spectrometric analysis, and the D and L forms are quantified by chemical ionization with deuterated internal standards. Patients have recently been described who accumulate the D form, and they appear to be quite different from those with the more common L form. Experience is reported with three patients and an animal model with D-2-hydroxyglutaric aciduria. The phenotype appears to include mental retardation, macrocephaly, hypotonia, seizures, and involuntary movements, although neurologic and systemic manifestations of the disorder varied considerably between individual patients, even within the same family. (J Child Neurol 1995;10:137-142).
Topical Review: A Review of Leptomeningeal Metastases in Pediatrics
Authors: Chamberlain Marc C.
Published: December 2008

Leptomeningeal metastasis is an uncommon problem in pediatric neurology and oncology. It occurs primarily in children with acute lymphoblastic leukemia and primary brain tumors. Although leptomeningeal metastasis may present with focal neurologic signs and symptoms, leptomeningeal metastasis is a disease affecting the entire neuraxis and necessitating an extent-of-disease evaluation of both the brain and spinal cord. Neuroradiographic staging of leptomeningeal metastases includes contrast-enhanced cranial computed tomography, magnetic resonance imaging, contrast-enhanced spine magnetic resonance imaging or computed tomographic myelography, and radionuclide cerebrospinal fluid flow studies. As a consequence of global neuraxis involvement, the treatment of leptomeningeal metastases requires therapy directed at all cerebrospinal fluid compartments. The treatment of leptomeningeal metastases usually includes both radiotherapy and intra-cerebrospinal fluid drug therapy. Radiotherapy is directed to regions of bulky or symptomatic central nervous system disease. Intra-cerebrospinal fluid drug therapy, using one of three available chemotherapeutic agents (methotrexate, cytarabine, or triethylene thiophosphoramide), is administered by a variety of schedules and either by intralumbar or intraventricular drug delivery. Notwithstanding that the treatment of leptomeningeal metastases is palliative, with an expected patient survival of 6 months, it often affords stabilization and protection from further neurologic deterioration in children with leptomeningeal metastases in whom death is usually a consequence of progressive systemic or parenchymal brain disease. (J Child Neurol 1995;10:191-199).
Intraneural Ganglion of the Common Peroneal Nerve in a 4-Year-Old Boy
Authors: Nicholson Timothy R. , Cohen Ralph C. , Grattan-Smith Padraic J.
Published: December 2008

The case history of a 4-year-old boy with an intraneural ganglion of the common peroneal nerve is presented. These lesions are rare, more commonly affect males, and typically present with a painful foot-drop. A mass is often palpable adjacent to the neck of the fibula. Our patient has made a good recovery after surgery. (J Child Neurol 1995;10:213-215).
Apparent Life-Threatening Event: A Neurologic Perspective
Authors: Tirosh Emanuel , Jaffe Michael
Published: December 2008

Of 46 infants who were investigated for apparent life-threatening events, central nervous system disorders were diagnosed in seven (15%). Convulsive disorders, intraventricular hemorrhage and hydrocephalus, absent corpus callosum, and developmental deficits were found. In four of the seven, no neurologic deficit was suspected before the event. Electroencephalographic studies (overnight in two) would have identified the disorder in all four. Electroencephalography is therefore a recommended routine procedure in investigation of apparent life-threatening events. Central nervous system disorders should be routinely ruled out in cases of apparent life-threatening event, even in the absence of clinical clues. (J Child Neurol 1995;10:216-218).
Ornithine Transcarbamylase Deficiency in Females: An Often Overlooked Cause of Treatable Encephalopathy
Authors: Pridmore Clair L. , Clarke Joe T.R. , Blaser Susan
Published: December 2008

Ornithine transcarbamylase deficiency is an X-linked recessive disorder of urea biosynthesis characterized by recurrent, often fatal, hyperammonemic encephalopathy in affected males; carrier females are usually asymptomatic. We report here the clinical and laboratory findings in five symptomatic heterozygous females with ornithine transcarbamylase deficiency. In each case, the onset of symptoms occurred in the 1st year of life, but diagnosis was delayed by up to 15 years. Symptoms included recurrent vomiting with lethargy (five patients), dietary protein intolerance (five), irritability (four), severe acute encephalopathy (three), ataxia (three), and acute hemiparesis (two). All eventually showed evidence of developmental delay or learning difficulties. Two of the three who experienced severe, acute, hyperammonemic encephalopathy suffered serious, permanent neurologic sequelae. Three of the patients showed decreased ornithine transcarbamylase activity in liver obtained by needle biopsy, and the other two had marked orotic aciduria associated with hyperammonemia. Neuroimaging studies demonstrated persistent abnormal lobar attenuation and abnormal signal on computed tomographic scan and magnetic resonance imaging. All patients showed marked symptomatic improvement on treatment with dietary protein restriction supplemented by pharmacologic measures to increase nonprotein nitrogen excretion. Ornithine transcarbamylase deficiency should be considered in the differential diagnosis of acute or chronic encephalopathy in females at any age. (J Child Neurol 1995;10:369-374).
Benign Rolandic Epilepsy: Atypical Features Are Very Common
Authors: Wirrell Elaine C. , Camfield Peter R. , Gordon Kevin E. , Dooley Joseph M. , Camfield Carol S.
Published: December 2008

The objective of this study was to determine the frequency of atypical clinical and electrographic features in children with benign rolandic epilepsy. A retrospective case series design was employed in the setting of a tertiary care pediatric hospital. Forty-two children with benign rolandic epilepsy were seen through our neurology department between January 1, 1991, and December 31, 1993. Their charts were reviewed for atypical clinical features, imaging studies and results, total number of seizures at initial presentation and last follow-up, and use of anticonvulsants. Atypical clinical features included status epilepticus, developmental delay, daytime-only seizures, screaming as a seizure component, and postictal Todd's paresis. All children had at least one electroencephalogram, and these records were reviewed for atypical electrographic features such as unusual location, atypical spike morphology, and abnormal background. Atypical clinical features were seen in 50% of patients and atypical electrographic features in 31%. Computed tomographic scans were performed in 15 patients and were consistently normal. Treatment with anticonvulsant medication was initiated in 40%. Although patients with atypical features did not have an increased seizure frequency, they were more likely to undergo imaging studies (P < .01) and to be commenced on anticonvulsant medication (P < .02). Our experience suggests that atypical clinical and electrographic features are the rule rather than the exception in benign rolandic epilepsy. Further work must be done to develop a reliable definition of this common entity. (J Child Neurol 1995;10:455-458).