bluuebunny/crossref_metadata_2025 huggingface dataset:
Venlafaxine in Children, Adolescents, and Young Adults With Autism Spectrum Disorders: An Open Retrospective Clinical Report
Authors: Hollander Eric , Kaplan Alicia , Cartwright Charles , Reichman Daniel
Published: January 2008

Autism is characterized by social deficits, communication and language impairments, narrow restricted interests, repetitive behaviors, inattention, and hyperactivity. While selective serotonin reuptake inhibitors have demonstrated efficacy in treating core symptoms of autism, norepinephrine reuptake inhibitors have demonstrated efficacy in symptoms of attention-deficit hyperactivity disorder (ADHD). An open, retrospective clinical study with venlafaxine evaluated its effect on core symptoms of autism as well as associated features of ADHD. Ten consecutive subjects meeting Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), criteria for an autism spectrum disorder were treated with venlafaxine, initiated at 12.5 mg per day and adjusted on a flexible basis. Six of 10 completers were judged to be sustained treatment responders, by scoring 1 (very much improved) or 2 (much improved) on the Clinical Global Impressions improvement scale. Venlafaxine was effective in low dosages (mean, 24.37 mg/day; range, 6.25 to 50 mg/day) and was well tolerated. Improvement was noted in repetitive behaviors and restricted interests, social deficits, communication and language function, inattention, and hyperactivity. Controlled treatment trials with venlafaxine are warranted in autism spectrum disorders. ( J Child Neurol 2000;15:132-135).
HyperCKemia as the Only Sign of McArdle's Disease in a Child
Authors: Bruno Claudio , Bertini Enrico , Santorelli Filippo M. , DiMauro Salvatore
Published: January 2008

An asymptomatic 13-year-old boy, who never complained of exercise intolerance or myalgia, was found to have markedly elevated serum creatine kinase (CK) levels during a routine check-up. General physical and neurologic examinations were normal. Surprisingly, histochemical and biochemical analysis of muscle showed myophosphorylase deficiency and genetic analysis showed that the patient was homozygous for the most common mutation encountered in McArdle's disease (R49X). This case illustrates the fuzzy correlation between molecular defect and clinical phenotype in patients with McArdle's disease, and suggests that a thorough study of the muscle biopsy is important in patients with idiopathic hyperCKemia for correct diagnosis and careful follow-up. ( J Child Neurol 2000;15:137-138).
Topical Review: Evaluation and Treatment of Children With Neurogenic Bladders
Authors: Bankhead Roy W. , Kropp Bradley P. , Cheng Earl Y.
Published: January 2008

The evaluation and treatment of children with neurogenic bladders can be difficult because of the complexity of the neurologic deficit and the subjectivity of the history and physical exam. The primary emphasis of the physicians caring for these children should be to preserve renal function and facilitate continence when possible. As knowledge of both normal and abnormal lower urinary-tract dynamics increases, so does the ability to care for children with abnormal bladder dynamics caused by various neurologic conditions. With recent advancements in medical and surgical treatment of the neurogenic bladder, most children can maintain adequate renal function and attain urinary continence. This article reviews the pertinent innervation, anatomy, and physiology of the lower urinary tract, and discusses current evaluation and treatment of children with neurogenic bladders. (J Child Neurol 2000;15:141-149).
Langerhans Cell Histiocytosis and the Central Nervous System in Childhood: Evolution and Prognostic Factors. Results of a Collaborative Study
Authors: Barthez Marie-Anne , Araujo Elizabeth , Donadieu Jean
Published: January 2008

This retrospective study detailed clinical and radiologic involvement of the central nervous system related to Langerhans cell histiocytosis in 18 French children. We excluded cases of isolated hypothalamic-pituitary dysfunction or spinal involvement. Cerebellar symptoms were the most common clinical symptoms. Two different patterns of magnetic resonance or computed tomographic images were identified: demyelination and gliosis or atrophy, described as degenerative lesions, mostly located in the cerebellum in 10 children, or tumor-like lesions occurring in any part of the brain in 13 children. Six children had both types of lesion. The clinical cerebellar syndrome correlated with the specific imaging pattern suggestive of a cerebellar degenerative lesion, which did not show any changes after treatment. As suggested by this study and previous clinical and histologic reports, it is believed that brain involvement in the course of Langerhans cell histiocytosis might arise from different disease mechanisms: primary histiocyte proliferation and secondary atrophy or demyelination and gliosis of unknown origin. Treatment consequently should be adapted to the supposed mechanism of the lesion. (J Child Neurol 2000;15:150-156).
Relationship of Cognitive Functioning, Whole Brain Volumes, and T2-Weighted Hyperintensities in Neurofibromatosis-1
Authors: Cutting Laurie E. , Koth Christine W. , Burnette Courtney P. , Abrams Michael T. , Kaufmann Walter E. , Bridge Denckla Martha
Published: January 2008

Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of macrocephaly as about 50%, and report that macrocephaly in patients with neurofibromatosis-1 does not appear to be related to the familial or sporadic origin of the neurofibromatosis-1 or to the presence or absence of T2-weighted hyperintensities. No strong relationship emerged between the extent of neurofibromatosis-1-associated impairment of cognitive functions and degree of macrocephaly; however, the macrocephalic neurofibromatosis-1 group did have a significant verbal impairment relative to the non-macrocephalic neurofibromatosis-1 group in vocabulary (P < .009). (J Child Neurol 2000;15:157-160).
Clinical Manifestations of Cerebrovascular Hypoplasias in Childhood
Authors: Bojinova Veneta , Dimova Petia , Belopitova Liliana
Published: January 2008

The aim of the study was to analyze cerebrovascular hypoplasia in childhood and its clinical manifestations in a clinical population of 205 children aged 3 to 14 years. Cerebrovascular hypoplasias were diagnosed using angiography ( n=63), magnetic resonance angiography, and transcranial Doppler ultrasonography. Hypoplasias were localized in the internal carotid artery in 41.9% of patients, in the middle cerebral artery in 54.1%, the anterior cerebral artery in 1.0%, and in the vertebro-basilar system in 3.0%. Clinical manifestations included transient ischemic attacks (21% of patients), cerebral infarcts (17%), progressive unilateral cerebral hemisphere atrophy (1.0%), focal and secondary generalized epileptic seizures (56.1%), and migraine-like headache (4.9%). Hypoplasias of the internal carotid artery and middle cerebral artery manifested as focal and secondary generalized epileptic seizures, transient ischemic attacks, cerebral infarcts, migraine-like headache, and progressive unilateral cerebral hemisphere atrophy, in descending order of frequency. Hypoplasias in the anterior cerebral artery or the basilar artery caused cerebral infarcts, and hypoplasias in the vertebral arteries caused transient ischemic attacks. This article discusses the pathophysiology of ischemia in the territory of the hypoplastic cerebral artery in childhood, as well as possibilities for noninvasive neuroimaging for diagnosis of cerebrovascular hypoplasias. (J Child Neurol 2000;15:166-171).
Linkage Analysis of Moyamoya Disease on Chromosome 6
Authors: Inoue Takuya K. , Ikezaki Kiyonobu , Sasazuki Takehiko , Matsushima Toshio , Fukui Masashi
Published: January 2008

Genetic factors have been suggested to contribute to the etiology of moyamoya disease. The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of moyamoya disease using markers on chromosome 6, where the HLA gene is located, was performed. The 15 microsatellite markers of chromosome 6 were studied in 20 affected sibling pairs. From an identical-by-descent analysis of these markers, an allele with possible linkage to moyamoya disease was identified. Sharing of the allele among affected members in 19 families was investigated, considering the haplotype. The marker, D6S441, might be linked to moyamoya disease. Considering the haplotype, the allele was shared among the affected members in 16 (82%) of the 19 families, but not in two others. In one family, sharing of the allele could not be determined because of low heterozygosity. Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease. (J Child Neurol 2000;15:179-182).
New Concepts of Guillain-Barré Syndrome
Authors: Asbury Arthur K.
Published: January 2008

Guillain-Barré syndrome is an acute autoimmune polyradiculoneuropathy with a clinical presentation of flaccid paralysis with areflexia, variable sensory disturbance, and elevated cerebrospinal fluid protein without pleocytosis. Although Guillain-Barré syndrome previously had been viewed as a unitary disorder with variations, it currently is viewed as a group of syndromes with several distinctive subtypes. These include the principal subtype prevalent in the Western world (acute inflammatory demyelinating polyradiculoneuropathy, and others, each with distinctive electrodiagnostic and pathologic features, including acute motor axonal neuropathy), acute motor-sensory axonal neuropathy, Miller Fisher syndrome, and perhaps others. The clinical and pathologic features of these Guillain-Barré syndrome subtypes are reviewed, and the role of antecedent infections, particularly Campylobacter jejuni gastroenteritis, and the role of antiganglioside antibody responses are reviewed with respect to pathogenesis. Treatment of Guillain-Barré syndrome includes both important supportive measures and immunotherapies, specifically high-dose intravenous immunoglobulin and plasma exchange. ( J Child Neurol 2000;15:183-191).
Clinical Spectrum of 500 Children With Neurocysticercosis and Response to Albendazole Therapy
Authors: Singhi Pratibha , Ray Munni , Singhi Sunit , Khandelwal N.
Published: January 2008

Neurocysticercosis is a major cause of neurologic illness worldwide. Its manifestations are variable, and somewhat different when it occurs in children. Controversy exists regarding anticysticercal therapy. The clinical, laboratory, and radiographic features of 500 consecutive children with neurocysticercosis were studied; the children were then followed prospectively and their response to albendazole therapy was analyzed. Diagnosis of neurocysticercosis was based primarily on neuroimaging. Computed tomographic (CT) scans, neurocysticercosis serology, chest radiographs, and Mantoux tests were done in all children, and magnetic resonance imaging scans in 10%. All children with multiple lesions, and some randomly allocated children with single, small, enhancing CT lesions received albendazole. CT scans were repeated after 3 to 6 months. There were 272 boys and 228 girls, age range 16/12 to 126/12 years. Seizures were present in 94.8% of cases; 83.7% had focal seizures. Features of raised intracranial pressure were seen in 30% of patients and focal neurodeficit in 4%. Single lesions were seen in 76% of the children, with perilesional edema in 57.4%. Thirty-four children who had multiple cysts and received albendazole underwent serial CT evaluation. Four showed disappearance of lesions and 22 had reductions in the size or number, to give an overall improvement rate of 76%. Serial CT studies were available on 176 children with single lesions, 90 of whom received albendazole. Improvement (disappearance or reduction in the size of lesions) was observed in 91% (82 of 90) of albendazole-treated children versus 85% (73 of 86) of untreated children. This difference was not significant. No significant side-effects of albendazole were reported. These data indicate that partial seizures and single parenchymal cysts are the most frequent clinical and neuroradiographic manifestations of neurocysticercosis in children. Although albendazole therapy should be considered, especially in children with multiple lesions, many children with isolated neurocysticercosis will improve without antiparasitic therapy. ( J Child Neurol 2000;15:207-213).
Evaluation of Botulinum Toxin A Therapy in Children With Adductor Spasm by Gross Motor Function Measure
Authors: Mall Volker , Heinen Florian , Kirschner Janbernd , Linder Michaela , Stein Sabine , Michaelis Ulla , Bernius Peter , Lane Mary , Korinthenberg Rudolf
Published: January 2008

Intramuscular injection of botulinum neurotoxin A is a relatively new method for treating spastic movement disorders in children. One major goal of any therapy for patients with movement disorders is to improve gross motor function. In this study, 18 patients with adductor spasm were treated with botulinum neurotoxin A. Treatment effect was determined with the Gross Motor Function Measure, a standardized, validated instrument designed to assist in assessment of gross motor function. Spastic muscle hyperactivity and joint mobility were evaluated by the modified Ashworth Scale and by range of motion, respectively. Compared to pretreatment values, significant improvement in gross motor function ( P < .010), decrease in the modified Ashworth Scale, and increase in the range of motion ( P < .010) were achieved. Patients with moderate impairment of gross motor function (classed at level III and level IV in the Gross Motor Function Classification System) benefited most from treatment. In patients with severe handicap (level V), only one of five treated patients showed improvement in gross motor function. Nevertheless, all patients in this subgroup benefited from improved ease in hygienic care. In conclusion, we have demonstrated that for most children with moderate functional impairment, the Gross Motor Function Measure is a useful instrument for objective documentation of improvements of gross motor function following treatment with botulinum neurotoxin A. ( J Child Neurol 2000;15:214-217).
Headaches in Patients With Neurofibromatosis-1
Authors: DiMario Francis J. , Langshur Sharon
Published: January 2008

An analysis of patients followed with a diagnosis of neurofibromatosis-1 and headache was conducted. Characterization of headache type was done after chart review of 81 patients with neurofibromatosis-1 and headache. Consent was obtained for subsequent telephone interviews using a standardized questionnaire concerning the onset, characteristics, timing, triggers, and associated symptoms of the patients' headaches. Data was summarized and tabulated. Of 132 patients with neurofibromatosis-1, 81 were identified with any headache by screening history. Recurrent headaches were present in 77% of patients and in 47% of our neurofibromatosis-1 clinic population. Fifty-three of 81 patients were accessible for and agreeable to telephone interview. There were 23 male patients and 30 female patients aged 56/12 to 496/12 years, with a mean age of 20.9 years. Eighty-one percent reported having experienced recurrent headaches within the year. The majority reported onset of headache prior to the age of 10 years. Headache characteristics included the following: frequency of monthly or less, frontotemporal location, pulsating or pressing quality, and moderate severity (pain scale 4 to 5 out of 10). Headaches interfered with daily activities, had weekend occurrence, and had a duration less than 2 hours. Common headache triggers included stress, "change in weather," menstruation, fatigue, and certain foods. A high percentage of patients reported associated symptoms of nausea with or without vomiting (37%), phonophobia, photophobia, pallor, and visual scotoma. We classified 34% of the patients as having migraine (25% with aura, 9% without aura), 45% with nonmigrainous headache only, and 15% with mixed headache types (either intermittently), and 7.5% with other head pains. We conclude that patients with neurofibromatosis-1 are at greater risk for headaches than the general population. While the prevalence of both migraine and nonmigraine headache is somewhat greater than in the general population, the proportion of tension-type headache, especially in young children, is greater than expected. ( J Child Neurol 2000;15:235-238).
Subacute Sclerosing Panencephalitis With Atypical Onset: Clinical, Computed Tomographic, and Magnetic Resonance Imaging Correlations
Authors: Dimova Petia , Bojinova Veneta
Published: January 2008

Clinical, computed tomographic (CT), and magnetic resonance imaging (MRI) correlations of subacute sclerosing panencephalitis with an atypical onset are presented in three children. In all three patients, the disease began similarly, with unilateral neurologic deficit followed by gnosis, praxis, and memory dysfunction corresponding to massive one-sided lesions. The first patient demonstrated right frontal-lobe syndrome and polymorphic extrapyramidal hyperkinesias; MRI showed a large high-signal lesion in the right frontal lobe, while CT was normal. The second patient displayed a disease onset with left-sided hemiparkinsonism and involuntary movements correlating to the MRI finding, ie, a massive right-sided occipitotemporoparietal subcortical lesion. An acute, stroke-like episode represented the first symptom in the third child. CT visualized cerebral, mainly left-sided cortical atrophy. In all three children, CT and MRI revealed significantly progressing brain atrophy at the disease's latest stages. We discuss the role of MRI in detecting early pathologic changes in children with subacute sclerosing panencephalitis. ( J Child Neurol 2000;15:258-260).
Exophytic Juvenile Pilocytic Astrocytomas of the Posterior Fossa
Authors: Martin David S. , Geller Thomas J. , Falbo Stephanie , Pittman Thomas
Published: January 2008

In children, posterior fossa juvenile pilocytic astrocytomas are common tumors. Radiologically, primarily extra-axial brainstem pilocytic astrocytomas are uncommon and extra-axial cerebellar pilocytic tumors are exceptional. We report two cases of such exophytic tumors, contrasting their presentation, imaging appearance, and prognosis. We also report the radiographic features of posterior fossa juvenile pilocytic astrocytomas from a 5-year review of our institutional experience. ( J Child Neurol 2000;15:262-265).
Cerebral Arteritis Following Methylphenidate Use
Authors: Schteinschnaider Angeles , Lemme Plaghos L. , Garbugino S. , Riveros D. , Lazarowski A. , Intruvini S. , Massaro M.
Published: January 2008

Stroke is a well-documented complication of amphetamine abuse. Methylphenidate, chemically and pharmacologically similar to amphetamines, is widely used in the treatment of attention deficit disorder in children. The possibility of vasculitis connected to methylphenidate should not be surprising. A case is reported of stroke associated with ingestion of methylphenidate in an 8-year-old boy. Family history was negative and other causes of vasculitis were excluded. We draw your attention to the risk of using methylphenidate for a long period of time. ( J Child Neurol 2000; 15:265-267).
A Child With Neurofibromatosis-1 and a Lumbar Epidural Arteriovenous Malformation
Authors: Nadig Malini , Munshi Ilyas , Short M. Priscilla , Tonsgard James H. , Sullivan Christopher , Frim David M.
Published: January 2008

A 10-year-old child with neurofibromatosis-1 was evaluated for progressive lumbar scoliosis, back pain, and foot numbness. Magnetic resonance imaging showed several lumbar intraspinal and extraspinal masses consistent with neurofibromas. The mass at L3-L5 compressed the thecal sac and was thought to be the source of the symptoms. On operative exploration, a lumbar epidural arteriovenous malformation was found, which was removed in its entirety. The child's back pain and foot numbness resolved. Epidural arteriovenous malformations in patients with neurofibromatosis-1 are rare and have been reported only in the cervical spine. Our finding of a lumbar epidural arteriovenous malformation in a child with neurofibromatosis-1 demonstrates that vascular anomalies can be present throughout the spine of patients with neurofibromatosis-1 and should be considered in the differential diagnosis of any neurofibromatosis-1-related epidural mass. ( J Child Neurol 2000;15:273-275).
Diffusion and Perfusion Magnetic Resonance Imaging in Childhood Stroke
Authors: Gadian David G. , Calamante Fernando , Kirkham Fenella J. , Bynevelt Michael , Johnson Cheryl L. , Porter David A. , Chong Wui K. , Prengler Mara , Connelly Alan
Published: January 2008

Two magnetic resonance imaging techniques, diffusion and perfusion imaging, are being used increasingly for evaluation of pathophysiology of stroke. This article introduces these techniques and reports some initial studies using these approaches, together with conventional T2-weighted magnetic resonance imaging, for investigation of childhood stroke. It is shown that the combination of T2-weighted and diffusion images can provide information about the timing of stroke events in childhood, and perfusion imaging can detect abnormalities not visible by other magnetic resonance imaging techniques. These magnetic resonance methods therefore should play an important role in investigation of children with stroke and could be of particular value in studies of at-risk populations of children such as those with sickle cell disease. (J Child Neurol 2000;15:279-283).
Nontraumatic Brain Hemorrhage in Children: Etiology and Presentation
Authors: Al-Jarallah Ahmed , Al-Rifai Muhammad T. , Riela Anthony R. , Roach E. Steve
Published: January 2008

The clinical and radiographic findings of 68 children and adolescents with nontraumatic intraparenchymal brain hemorrhage were analyzed retrospectively. There were 43 boys and 25 girls, and the average age was 7.1 years (range, 3 months to 18 years). The most common presenting symptom was a combination of headache or vomiting (40 cases, or 58.8%). Hemiparesis was the major presenting sign in 11 (16.2%) of the children, seizures occurred in 25 (36.8%) patients, and 6 (8.8%) children were irritable. Only 2 (2.9%) children were comatose at presentation. One or more risk factors for hemorrhage were found in 61 (89.7%) of 68 children. A third (23 cases, or 33.8%) had an arteriovenous malformation or fistula; altogether 29 (42.6%) children had some type of congenital vascular anomaly. Hematologic or coagulation disorders were present in 22 (32.4%) patients, and 9 (13.2%) patients had brain tumors. Hemorrhage could not be attributed to systemic hypertension in any child. The likelihood of establishing the cause of bleeding was greater when evaluation included cerebral angiography (97.3% versus 80.4% without angiography). Half (34 cases, or 50.0%) of the patients regained normal neurologic function. Six (8.8%) patients died, either directly or partly as a consequence of the hemorrhage. The remaining patients had various neurologic sequelae, including 17 (25.0%) with hemiparesis, 5 (7.4%) with aphasia, 7 (10.3%) with epileptic seizures, and 3 (4.4%) with hydrocephalus. More detailed follow-up studies are needed to obtain more information about the frequency of cognitive sequelae. ( J Child Neurol 2000;15:284-289).
Stroke in Childhood: Outcome and Recurrence Risk by Mechanism in 59 Patients
Authors: Chabrier Stéphane , Husson Béatrice , Lasjaunias Pierre , Landrieu Pierre , Tardieu Marc
Published: January 2008

This paper describes 59 patients, 3 months to 16 years of age, who were seen consecutively in the same center for cerebral arterial infarction. It focuses on the mechanism of stroke. The pathophysiologic process could be established for 78% of the children. Arteriopathic stroke (31 patients, or 53%) was the most common. The arteriopathies were either progressive (moyamoya in 4 patients, or 7%) or nonprogressive (27 patients, or 46%). The latter form occurred in two patterns: dissection of cervicocephalic arteries (12 patients, or 20%) and transient cerebral arteriopathy of unknown origin but probably angiitis (15 patients, or 25%). Cardiac or transcardiac embolic stroke occurred in 12% of the series and systemic diseases in 14%. There was a favorable outcome in 70% of patients having stroke due to nonprogressive arterial disease and stroke due to unidentified mechanisms. In contrast, only 26% of patients with embolic stroke, systemic disease, or moyamoya had a favorable outcome. Recurrences were more frequent and severe in this latter group. It is concluded that it is important to determine the mechanism of childhood stroke, because it strongly influences outcome, the recurrence risk, and treatment choice. ( J Child Neurol 2000;15:290-294).
Stroke in Children: Genetic and Metabolic Issues
Authors: Pavlakis Steven G. , Kingsley Peter B. , Bialer Martin G.
Published: January 2008

The study of genetic and metabolic etiologies of pediatric stroke, both vascular and metabolic, allows an understanding of the causes of acute focal neurologic deficits in childhood. Here, the mendelian and mitochondrial genetic causes of pediatric stroke syndromes are reviewed. This approach elucidates the etiology of childhood stroke and illustrates many of the genetic risk factors that are found in adult-onset cerebrovascular disease. Therefore, the study of childhood stroke serves as a model to elucidate the potential risk factors for all stroke. Ultimately this will serve to develop a more rational preventive and therapeutic approach for all cerebrovascular disease. ( J Child Neurol 2000;15:308-315).
Multicenter Prospective Study of Children With Sickle Cell Disease: Radiographic and Psychometric Correlation
Authors: Bernaudin F. , Verlhac S. , Fréard F. , Roudot-Thoraval F. , Benkerrou M. , Thuret I. , Mardini R. , Vannier J.P. , Ploix E. , Romero M. , Cassé-Perrot C. , Helly M. , Gillard E. , Sebag G. , Kchouk H. , Pracros J.P. , Finck B. , Dacher J.N. , Ickowicz V. , Raybaud C. , Poncet M. , Lesprit E. , Reinert P.H. , Brugières P.
Published: January 2008

After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography ( n = 143), cerebral magnetic resonance imaging ( n = 144), and neuropsychologic performance evaluation ( n = 156) (Wechsler Intelligence tests WISC-III, WIPPSI-R), which were also performed in 76 sibling controls (5 to 15 years old). Among the 173 patients with sickle cell disease (155 homozygous for hemoglobin SS, 8 sickle cell β0 thalassemia, 3 sickle cell β + thalassemia, 7 sickle cell hemoglobin C disease SC), 12 (6.9%) had a history of overt stroke, and the incidence of abnormal transcranial Doppler ultrasonography (defined as mean middle cerebral artery velocity > 200 cm/sec or absent) was 8.4% in the overall study population and 9.6% in patients with homozygous sickle cell anemia. The silent stroke rate was 15%. Significantly impaired cognitive functioning was observed in sickle cell disease patients with a history of stroke (Performance IQ and Full Scale IQ), but also in patients with silent strokes (Similarities, Vocabulary, and Verbal Comprehension). However, infarcts on magnetic resonance imaging were not the only factors of cognitive deficit: Verbal IQ, Performance IQ, and Full Scale IQ were strongly impaired in patients with severe chronic anemia (hematocrit ≤ 20%) and in those with thrombocytosis (platelets > 500 × 109/L). Multivariate logistic regression analysis showed that abnormal magnetic resonance imaging (odds ratio [OR] = 2.76) ( P = .047), hematocrit ≤ 20% (OR = 5.85) ( P = .005), and platelets > 500 × 109/L (OR = 3.99) ( P = .004) were independent factors of cognitive deficiency (Full Scale IQ < 75) in sickle cell disease patients. The unfavorable effect of low hematocrit has already been suggested, but this is the first report concerning an effect of thrombocytosis and showing that silent stroke alone is not a factor of cognitive deficit when not associated with low hematocrit or thrombocytosis. The effect of hydroxyurea, which is known to increase hematocrit and decrease platelet count, on cognitive functioning of sickle cell patients should be evaluated prospectively. ( J Child Neurol 2000;15:333-343).
Novel Mutation in the CPT II Gene in a Child With Periodic Febrile Myalgia and Myoglobinuria
Authors: Bruno Claudio , Bado Massimo , Minetti Carlo , Cordone Giuseppe , DiMauro Salvatore
Published: January 2008

We have identified a novel missense mutation in the carnitine palmitoyltransferase II (CPT II) gene in a child with CPT II deficiency characterized clinically by episodes of myalgia and myoglobinuria induced by intercurrent febrile illnesses. The patient was heterozygous for a G-to-A substitution at codon 487, changing an encoded glutamic acid to a lysine (E489K), while the other allele carried the common S113L mutation. This case enlarges the spectrum of mutations in patients with CPT II deficiency, and confirms the association of the S113L mutation with the muscular form. ( J Child Neurol 2000;15:390-393).
Risk Factors for Cerebral Palsy in Very Low-Birthweight Infants in the 1980s and 1990s
Authors: Dunm-Wasowicz Dorota , Rowecka-Trzebicka Krystyna , Milewska-Bobula Bogumila , Kassur-Siemieńska Barbara , Bauer Anna , Idzik Miroslawa , Lipka Bozena , Marciński Paweł
Published: January 2008

One-hundred twenty-nine very low-birthweight infants were treated in Newborn and Infant Care Department of Children's Memorial Health Institute between 1985 and 1994; 89 were taken to prospective neurodevelopmental care. The newborns were divided into two groups. Group I had 38 preterm infants born from 1985 to 1989 and followed up at 7 to 11 years of age. Group II had 51 very low-birthweight infants treated from 1990 to 1994 and followed up at 2 to 5 years of age. Complicated, multiple pregnancy, normal delivery, and extremely low birthweight were significantly more frequent in group II. Very low-birthweight infants were frequently born by cesarean section in severe asphyxia. Only four (7.8%) newborns received surfactant therapy. From 1990 to 1994, respiratory distress syndrome III and IV, and a longer respiratotherapy period were significantly more frequent. From 1985 to 1994, the frequency of sepsis, periventricular leukomalacia, and normal ultrasonography was constant. Intraventricular hemorrhage I, II, and IV were frequently present in the 1990s, and intraventricular hemorrhage III was frequent in the 1980s. Cerebral palsy was diagnosed in 11 (28.9%) children in group I and 18 (35.2%) in group II (not statistically different). Multiple and complicated pregnancy, cesarean section, severe asphyxia, and respiratory distress syndrome did not increase the risk of cerebral palsy in very low-birthweight infants. Periventricular leukomalacia has a more predictive value for cerebral palsy in these infants than did intraventricular hemorrhage. ( J Child Neurol 2000;15:417-420).
Idiopathic Intracranial Hypertension in Children
Authors: Youroukos Sotiris , Psychou Fotini , Fryssiras Spyros , Paikos Petros , Nicolaidou Polyxeni
Published: January 2008

We studied prospectively the etiology, clinical presentation, and outcome of idiopathic intracranial hypertension in 36 patients (20 boys and 16 girls) aged 3.5 months to 14 years. The etiology was identified in 28 (77.7%) patients. The most common predisposing factor was middle-ear infection, followed by obesity. Of the 36 cases seen, 26 presented with the classic picture of headaches, papilledema, and elevated cerebrospinal fluid pressure; 8 children had intracranial hypertension in the absence of papilledema and 2 had fundoscopic evidence of papilledema with normal cerebrospinal fluid pressure initially. In four children resolution of intracranial hypertension occurred with removal of the causative agent or appropriate treatment of the underlying condition. In 8 of 17 patients intracranial hypertension resolved with acetazolamide therapy and in 22 of 24 patients it resolved with corticosteroids in combination with acetazolamide. Subnormal visual acuity, narrowing of visual fields, or both were present on the initial examination in 10 patients; 2 of them, who presented with loss of vision, have permanent visual impairment. Four additional patients presented a transient, mild impairment of visual acuity during treatment. Our study confirms the wide clinical spectrum and the difficulties encountered in diagnosis of idiopathic intracranial hypertension. A wide variety of etiologic associations should be investigated to provide definitive therapy. Loss of visual function is the only serious complication. (J Child Neurol 2000;15:453-457).
Congenital Minamata Disease: Warnings From Japan's Experience
Authors: Kondo Kiyotaro
Published: January 2008

Minamata disease is alkylmercury poisoning causing Hunter-Russell syndrome due to ingestion of seafood polluted by industrial waste. Two epidemics occurred in Minamata (1956) and Niigata (1965), Japan. Many infants with "cerebral palsy" in villages where adult cases occurred were established as having congenital Minamata disease. Developing brains were affected by alkylmercury through transplacental exposure and even by breastfeeding. This report reviews the history, clinical features, pathology, epidemiology, metal analysis, experiments, and sociolegal aspects of congenital Minamata disease. Many victims are still alive and their present conditions are reviewed. (J Child Neurol 2000;15:458-464).
Spontaneous Recovery From Severe Encephalitis Involving Cerebellar Gray Matter
Authors: Sebire Guillaume , Proano Patricia Guzman , Martin Christine Saint
Published: January 2008

We report a case of cerebellitis displaying a severe neurologic onset but with spontaneous recovery, challenging the use of immunomodulatory treatment. (J Child Neurol 2000;15:483-484).
Temporary Pure Red-Cell Aplasia During Valproate Monotherapy: Clinical Observations and Spectral Electroencephalographic Aspects
Authors: Farkas Viktor , Szabo Miklos , Renyi Imre , Kohlheb Otto , Benninger Christian
Published: January 2008

We report the case of a 4-year-old boy with pure red-cell aplasia associated with sodium valproate monotherapy. Treatment with valproate was initiated because of idiopathic tonic-clonic seizures; he became free of seizures. During the introduction of and ongoing antiepileptic drug treatment, clinical and laboratory controls using electroencephalographic (EEG) spectral analysis were performed at regular intervals and disclosed normal values. Ten months after the introduction of valproate, clinical examination was normal except for marked pallor. Peripheral blood showed macrocytic anemia and the bone marrow finding was isolated absolute erythroblastopenia. At the same time, significant changes in EEG background activity were present as well-defined slowing. There was an increase in the relative power of theta activity and a decrease in alpha 2 activity in the occipital regions. Valproate was discontinued and phenobarbital therapy introduced. A complete resolution of the hematologic damage was observed after valproate withdrawal. Recovery of the hematologic parameters started 14 days after discontinuation of valproate therapy, while normalization of EEG background activity was observed earlier. The patient maintained stable hematologic values and seizure control without disturbances of the spectral EEG. After 6 months of phenobarbital therapy, re-administration of sodium valproate was not followed by recurrence of any clinical or electrophysiologic symptoms or abnormalities. (J Child Neurol 2000;15:485-487).
Diffuse Polymicrogyria Associated With Congenital Hydrocephalus, Craniosynostosis, Severe Mental Retardation, and Minor Facial and Genital Anomalies
Authors: Pavone Lorenzo , Rizzo Renata , Pavone Piero , Curatolo Paolo , Dobyns William Bill
Published: January 2008

We report an infant boy with an apparently new malformation syndrome. The major anomalies showed by the patient include diffuse polymicrogyria, congenital hydrocephalus, craniosynostosis with severe scaphocephaly, severe mental retardation, intractable epilepsy, and minor facial and genital anomalies. Our review of the literature and two computerized dysmorphology databases found some papers reporting polymicrogyria or lissencephaly associated with craniosynostosis or hydrocephalus. None of the reported patients had a phenotype similar to that of our patient. (J Child Neurol 2000;15:493-495).
Progressive Infantile Axonal Polyneuropathy
Authors: Geller Thomas J. , Connolly Anne M. , Kotagal Suresh , Prensky Arthur L.
Published: January 2008

Polyneuropathies are relatively uncommon in early infancy and the majority of affected children are found to have hypomyelinating neuropathies. Axonal sensorimotor neuropathies have been described in childhood but the majority of affected children present at or after 6 months of age, have nonprogressive courses, and achieve the ability to walk, albeit late. Here we present three infants with infantile progressive axonal polyneuropathy from two families with nonconsanguineous parents. Each child presented shortly after the neonatal period and with rapid progression to quadriplegia. Involvement of the lower cranial nerves, phrenic nerves, or both was present in each child. Electrophysiology was diagnostic in each child. While the diagnosis of spinal muscular atrophy was considered in each case, clinical presentation, biopsies, and genetic testing were inconsistent with this diagnosis. Recognition of this early form of progressive axonal neuropathy is important as respiratory compromise occurred early and the condition showed familial inheritance in two of our patients. (J Child Neurol 2000;15:513-517).
Benign Childhood Epileptic Syndromes With Occipital Spikes: New Classification Proposed by the International League Against Epilepsy
Authors: Panayiotopoulos Chrysostomos P.
Published: January 2008

In a recent proposal, the Commission on Classification and Terminology of the International League Against Epilepsy recognized early-onset childhood epilepsy with occipital spikes (Panayiotopoulos type), differentiating it from the only other type of childhood epilepsy with occipital spikes previously accepted: late-onset childhood epilepsy with occipital spikes (Gastaut type). The importance of this newly recognized syndrome of benign childhood partial seizures is that it is very common—only 2.4 times less frequent than benign rolandic epilepsy, and of equally excellent prognosis. It is characterized by a unique seizure type comprising a combination of autonomic and behavioral disturbances, vomiting, deviation of the eyes, and often with impairment of consciousness that can progress to convulsions. These commonly last for more than 3 minutes and in one quarter of cases for hours. One or more of these symptoms can predominate or be absent. Eyes can remain open without deviation, ictal vomiting might not occur, and autonomic and behavioral disturbances can predominate, particularly in the early stages of the ictus, and be missed in nocturnal seizures. Age at onset is 5 years, with a singular or a median of three seizures, which are predominantly nocturnal. Interictal electroencephalography (EEG) frequently shows occipital paroxysms or occipital spikes but one-fifth of the cases have only extraoccipital spikes on normal EEG. Treatment might not be needed. Panayiotopoulos syndrome, like rolandic epilepsy, needs recognition by the general pediatrician because of the invariably excellent prognosis and also because it can be misdiagnosed as an acute cerebral insult. ( J Child Neurol 2000;15:548-552).
Successful Treatment for Stroke in a Child Using Recombinant Tissue Plasminogen Activator
Authors: Thirumalai Shanti S. , Shubin Richard A.
Published: January 2008

Stroke in childhood is often catastrophic, with major sequelae. We report the first successful use of recombinant tissue plasminogen activator for arterial stroke in a child. The patient recovered with no neurologic deficit. ( J Child Neurol 2000;15:558).
Cognitive Outcome of Children With Early-Onset Hemiparesis
Authors: Kolk Anneli , Talvik Tiina
Published: January 2008

The aim of this study was to examine the cognitive outcome of children with congenital and acquired early-onset unilateral brain lesions associated with hemiparesis. The neuropsychologic evaluation was done using the NEPSY test battery on 37 children with hemiparesis and 13 sex- and age-matched healthy controls. Compared to the controls, children with left-sided brain lesions had significant delay in phonologic and language functions, while children with right-sided brain lesions performed more poorly in visual and spatial skills and in somatosensory functions. There were more left-handed children in the former (6 of 23) than in the latter (1 of 14) group. There was no significant difference in cognitive outcome between children with congenital and acquired lesions. The cognitive outcome of boys and that of children with active epilepsy was more affected. Overall, the patients showed impairment in many cortical functions and diffuse cognitive delay compared to controls and the side of lesion, active epilepsy, and male gender were significant factors in predicting cognitive outcome. (J Child Neurol 2000;15:581-587).
Crying Abnormalities in Congenital Hypothyroidism: Preliminary Spectrographic Study
Authors: Lenti Boero Daniela , Weber Giovanna , Vigone Maria Cristina , Lenti Carlo
Published: January 2008

The aim of this preliminary study was to evaluate the acoustic patterns of the cries of hypothyroid newborns at the time of diagnosis and after the beginning of therapy. Cries were recorded at the nursery of the San Raffaele Hospital, Milan, Italy from 12 full-term subjects (three boys and nine girls) affected by congenital hypothyroidism. Results show that untreated hypothyroid infants at first recording had fewer voiceless and partially voiced cries than normal controls. The percent distribution of this pattern did not change at the second recording after the onset of substitutive therapy. Also, untreated hypothyroid infants had many more cry units showing a vibrato contour than did controls, and this pattern did not change after the onset of treatment. Starting, maximum, minimum, and end frequencies measured on the fundamental were significantly lower in the hypothyroid sample. Four hypothyroid subjects recorded before therapy and within 4 weeks after therapy onset significantly augmented their fundamental frequency parameters; however, in 25% of the sample, sound parameters remained unaltered after 3 or more weeks of treatment. To our knowledge the present preliminary study is the first one performed on follow-up of hypothyroid newborns and indicates that both central and peripheral damage might influence the pattern of crying in untreated hypothyroid infants. (J Child Neurol 2000;15:603-608).
Neurometabolic Testing in Developmental Delay
Authors: Papavasiliou Antigone S. , Bazigou Helen , Paraskevoulakos Evagelos , Kotsalis Charalambos
Published: January 2008

The goal of this study was to examine the usefulness of neurometabolic testing in patients with unexplained developmental delay. We included 118 patients from ages 3 months to 13 years. The evaluation was conducted according to a protocol that called for stepwise investigations with the intention to minimize unnecessary tests. Clinical and neuroradiologic abnormalities were used as guidelines for the type and extent of the neurometabolic work-up. Based on our results, a diagnosis for a neurometabolic disorder was established in 16 patients (13.6%). Findings regarding abnormal metabolites (amino acids, ammonia, lactate, pyruvate, urine organic acids) did not lead to a diagnosis but to further investigations. Abnormalities in lysosomal enzymes, very-long-chain fatty acids, and urine mucopolysaccharides were definitive in establishing a diagnosis. In conclusion, in children with slowly progressing development with no apparent cause, there is a need for guidelines regarding the type of patients who need to be tested and the kind and extent of neurometabolic diagnostic work-up. (J Child Neurol 2000;15:620-622).
Unilateral Periventricular Nodular Heterotopia Associated With Diffuse Areas of Cerebral Functional Abnormalities
Authors: Borgatti Renato , Zucca Claudio , Piccinelli Paolo , Fondazione Macchi H. , Radice Lucia , Tofani Annalisa , Benti Riccardo , Triulzi Fabio
Published: January 2008

A 17-year-old boy with polymorphic simple and complex partial seizures is described. Magnetic resonance imaging revealed a unilateral periventricular nodular heterotopia near the occipital ventricular right horn. Interictal and ictal electroencephalographic recordings showed bilateral specific epileptiform anomalies in the occipital region and asynchronous slow waves in frontal areas. Single photon emission computed tomography documented a reduction in regional cerebral blood flow in an area of the left occipital cortex and a symmetric increase in tracer uptake in the frontal lobes. The neuropsychologic assessment revealed a dysfunction of the frontal associative areas. Data collected led the authors to suspect a more diffuse cortical dysfunction than the nodular heterotopia revealed on magnetic resonance imaging. (J Child Neurol 2000;15: 622-626).
Topical Review: Hypomelanosis of Ito: Clinical Syndrome or Just Phenotype?
Authors: Ruggieri Martino , Pavone Lorenzo
Published: January 2008

The term hypomelanosis of Ito is applied to individuals with skin hypopigmentation along the lines of Blaschko. Even though originally described as a purely cutaneous disease, subsequent reports have included a 33% to 94% association with multiple extracutaneous manifestations mostly of the central nervous and musculoskeletal systems leading to frequent characterization as a neurocutaneous disorder. A number of reports claimed familial occurrence and supported single gene inheritance for hypomelanosis of Ito, but none has been proved. Miscellaneous chromosomal mosaicisms have been demonstrated in some but not all affected individuals. Thus, it has been suggested that hypomelanosis of Ito is not a single condition but rather a nonspecific manifestation (ie, a phenotype) of chromosomal mosaicism and that this term should now be dropped. In this article, we review these developments focusing on the neurologic and genetic aspects of hypomelanosis of Ito. Our personal experience with 41 hypomelanosis of Ito patients and literature review led us to conclude that (1) the term hypomelanosis of Ito has been often misapplied to individuals with nonspecific "patchy depigmentation of the skin" who had several conditions of different etiologies; (2) the white matter involvement seen at neuroimaging in most of our hypomelanosis of Ito patients was similar to that reported in well-defined neurocutaneous disorders, including Sjögren-Larsson syndrome and incontinentia pigmenti; (3) whatever figures we take for associated central nervous system abnormalities in hypomelanosis of Ito, these represent the most frequent extracutaneous findings and, therefore, the use of the term neurocutaneous disorder for hypomelanosis of Ito might well be appropriate. (J Child Neurol 2000;15:635-644).