bluuebunny/crossref_metadata_2025 huggingface dataset:
Recurrent Meningitis Associated With a Petrous Apex Cephalocele
Authors: Motojima Toshino , Fujii Katsunori , Ishiwada Naruhiko , Takanashi Jun-ichi , Numata Osamu , Uchino Yoshio , Yamakami Iwao , Kohno Yoichi
Published: June 2007

We present the case of a 6-year-old girl with recurrent bacterial meningitis and cerebrospinal fluid (CSF) rhinorrhea associated with a petrous apex cephalocele (PAC). We diagnosed her by means of three-dimensional computed tomography (CT) and heavily T2-weighted magnetic resonance imaging (MRI). Petrous apex cephaloceles are usually an asymptomatic incidental finding in adults; however, they should be considered as a possible cause of CSF rhinorrhea, otorrhea, and recurrent meningitis in children. ( J Child Neurol 2005;20:168—170).
X-Linked Lissencephaly With Abnormal Genitalia as a Tangential Migration Disorder Causing Intractable Epilepsy: Proposal for a New Term, “Interneuronopathy”
Authors: Kato Mitsuhiro , Dobyns William B.
Published: June 2007

X-linked lissencephaly with abnormal genitalia is the first human disorder in which deficient tangential migration in the brain has been demonstrated. Male patients with X-linked lissencephaly with abnormal genitalia show intractable seizures, especially clonic convulsions or myoclonus from the first day of life, but neither infantile spasms nor hypsarrhythmia on electroencephalograms so far. Brain magnetic resonance imaging shows anterior pachygyria and posterior agyria with a mildly thick cortex, agenesis of the corpus callosum, and dysplastic basal ganglia. ARX, a paired-class homeobox gene with four polyalanine sequences, is a responsible gene for X-linked lissencephaly with abnormal genitalia. The brain of Arx knockout mice shows aberrant tangential migration and differentiation of γ-aminobutyric acid (GABA)ergic interneurons. In human X-linked lissencephaly with abnormal genitalia, a neuropathologic study has suggested a loss of interneurons. Meanwhile, polyalanine expansion of ARX causes symptomatic or nonsymptomatic West's syndrome and nonsyndromic mental retardation. The striking epileptogenicity of X-linked lissencephaly with abnormal genitalia and West's syndrome associated with ARX mutations is considered to be caused by a disorder of interneurons involving a tangential migration disorder. We propose “interneuronopathy” as a term for this. ( J Child Neurol 2005;20:392—397).
Embryology of the Neural Crest: Its Inductive Role in the Neurocutaneous Syndromes
Authors: Sarnat Harvey B. , Flores-Sarnat Laura
Published: June 2007

Neural crest cells are first recognized at the lateral margin of the neural placode shortly after gastrulation, although they are not committed to their diverse fates until later. After dorsal closure of the neural tube, neural crest cells separate and migrate throughout the embryo to form many structures of ectodermal origin (eg, dorsal root and autonomic ganglia, peripheral nerve sheaths) and mesodermal origin (eg, blood vessels, melanocytes, adipose tissue, membranous bone, connective tissue, most of the ocular globe). Terminal differentiation occurs after migration is complete. Three regions of the neural tube generate neural crest: rhombencephalon, mesencephalon, and prosencephalon, each with a different migratory pattern. The most important genes promoting neural crest differentiation and migration are those with a dorsalizing influence in the vertical axis of the neural tube (eg, PAX3, BMP4, ZIC2), some segmentation genes (eg, WNT1), genes that inhibit neural crest (eg, EGR2), and neural crest—specific differentiating genes (eg, SLUG, SOX10). In the neurocutaneous syndromes, diverse features result from abnormal neural crest differentiation, providing a more encompassing embryologic basis for these disorders than the traditional view that these syndromes are somehow related to skin and brain because both are ectodermal derivatives. Abnormal angiogenesis, areas of abnormal pigmentation that sometimes follow the lines of Blashko, nerve sheath proliferations, disorders of chromaffin tissue, lipomes and benign and malignant tumors are frequent features. Many defective genes in neurocutaneous syndromes have an additional function as tumor suppressors. Interactions between genes associated with these disorders and others essential to neural crest formation, migration, and differentiation, are a likely molecular genetic basis for these diseases. The craniofacial abnormalities associated with many cerebral malformations and cutaneous lesions in some neurocutaneous syndromes emphasize an important inductive role of the neural tube in the development of non-neural tissues, mediated through neural crest. ( J Child Neurol 2005;20:637—643).
Novel Form of Intermediate Salla Disease: Clinical and Neuroimaging Features
Authors: Morse Richard P. , Kleta Robert , Alroy Joseph , Gahl William A.
Published: June 2007

The objective of this article is to describe the clinical, radiographic, and molecular genetic features of a new intermediate form of free sialic storage disease. Free sialic storage disease is a rare autosomal recessive lysosomal disorder that results from mutations in SLC17A5, a gene that codes for sialin, a lysosomal membrane sialic acid transporting protein. Infantile sialic acid storage disease has a severe phenotype, and Salla disease (Finnish variant) is generally milder in phenotype; intermediate forms have also been described. There have been few reports of magnetic resonance imaging (MRI) in the sialic acid storage disorders; leukodystrophy has been the characteristic finding, along with hypoplasia of the corpus callosum. An 8-month-old non-Finnish child presented with hypotonia and global developmental delay. Serial MRIs with magnetic resonance spectroscopy at 9 and 16 months revealed severe hypomyelination and hypogenesis of the corpus callosum. There was mild elevation of urinary sialic acid (4.5 times above normal). Electron microscopy of a skin biopsy showed lysosomal enlargement with oligosaccharide storage, and confirmatory molecular genetic testing revealed compound heterozygosity for two new SLC1 7A5 mutations. Free sialic storage disease of the intermediate type is an important part of the differential diagnosis of a hypotonic, delayed child with abnormal white matter on MRI. Intermediate types of free sialic acid overlap in phenotype with infantile sialic acid storage disease and the milder Salla disease and thus might be more difficult to identify clinically; the lack of Finnish ethnicity should not preclude testing for this probably under-recognized disorder. White-matter abnormalities appear to be characteristic of the entire phenotypic spectrum. ( J Child Neurol 2005;20:814—816).
Prognostic Significance of Tuber Count and Location in Tuberous Sclerosis Complex
Authors: Doherty Colin , Goh Suzanne , Young Poussaint Tina , Erdag Namik , Thiele Elizabeth A.
Published: June 2007

The objectives of this study were (1) to test the utility of tuber count and tuber location as biomarkers of disease severity in patients with tuberous sclerosis complex and (2) to examine the relationship between gene mutation, tuber count, and tuber location. We found that an increased tuber count per lobe and in total was associated with an increased risk of infantile spasms ( P < .01). Increased tuber count in the occipital lobe was associated with an increased risk of pervasive developmental disorder ( P = .0074). The mean tuber count per lobe and in total was higher in those with poorly controlled seizures and those with off-track development; however, these differences were not statistically significant ( P > .01). The TSC2 gene mutation was associated with a significant increase in the tuber count per lobe and in total ( P < .01). In summary, increased tuber count is strongly associated with infantile spasms and a TSC2 gene mutation. Seizure control and developmental delay do not show the strong association with tuber count suggested by the earlier literature. ( J Child Neurol 2005;20:837—841).
Latent and Potential Celiac Disease in Epileptic Turkish Children
Authors: Dalggiç Buket , Dursun Iİsmail , Serdaroglu Ayşe , Dursun Ayşe
Published: June 2007

In this study, we measured tissue transglutaminase IgA antibody for the serologic screening of celiac disease in 70 children with epilepsy. A pathologic titer of tissue transglutaminase IgA antibody was found in eight patients (4.7%). Small intestinal biopsies were performed in all antibody-positive patients, and two of them had small bowel histology typical of celiac disease (1.17%). Six had normal histology and were considered to have potential celiac disease. The prevalence of celiac disease in the epileptic group was 1.17%. None of the serum samples of 103 healthy children comprising the control group were positive for tissue transglutaminase IgA antibody. Therefore, we suggest that epileptic children be screened for celiac disease. ( J Child Neurol 2006;21:6—7).
Intracranial Meningiomas in Children: Report of 27 New Cases and Critical Analysis of 440 Cases Reported in the Literature
Authors: Caroli Emanuela , Russillo Michelangelo , Ferrante Luigi
Published: June 2007

We accumulated 440 cases of intracranial meningiomas in patients under 16 years of age, and another 27 personal. This review confirms the existence of specific clinical features of spontaneous and radiation-induced meningioma in children. In addition, we discuss various points that suggest a more aggressive behavior of meningiomas in children than in adults. ( J Child Neurol 2006;21:31—36).
Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA A8344G Myoclonus Epilepsy With Ragged Red Fibers (MERRF) Mutation: An Infantile Case
Authors: Orcesi Simona , Gorni Ksenija , Termine Cristiano , Uggetti Carla , Veggiotti Pierangelo , Carrara Franco , Zeviani Massimo , Berardinelli Angela , Lanzi Giovanni
Published: June 2007

Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse is not true. In fact, this mutation is also responsible for various other syndromes, such as Leigh syndrome, spinocerebellar degeneration, atypical Charcot-Marie-Tooth disease, and multiple truncal lipomas. We describe a child with the A8344G mutation of mitochondrial DNA and an unusual clinical, neuroradiologic, and biochemical phenotype, characterized by early-onset, nonprogressive cerebellar ataxia, and subclinical myoclonias in association with bilateral putaminal necrosis on magnetic resonance imaging and a reduction in complex V activity. Our case confirms the existence of a relationship between alteration in adenosine triphosphatase activity and basal ganglia involvement. We recommend that the possibility of a mitochondrial pathology should always be taken into consideration in the presence of bilateral symmetric lesions of the basal ganglia, even when the typical clinical picture is lacking. ( J Child Neurol 2006;21:79—82).
Evolution of Serum Lipids and Lipoprotein (a) Levels in Epileptic Children Treated With Carbamazepine, Valproic Acid, and Phenobarbital
Authors: Castro-Gago Manuel , Novo-Rodríguez María Inés , Blanco-Barca Manuel Oscar , Urisarri-Ruíz de Cortázar Adela , Rodríguez-García Javier , Rodríguez-Segade Santiago , Eirís-Puñal Jesús
Published: June 2007

The concentration levels of serum lipids and lipoprotein (a) were measured in 20 children receiving carbamazepine, 25 children receiving valproic acid, and 5 children receiving phenobarbital at the following times: (1) during chronic treatment while eating a normal diet, (2) during chronic treatment while eating a low-fat diet (children treated with carbamazepine and phenobarbital with high levels of total choleserol, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol), and (3) 3 months after the end of treatment with antiepileptic drugs. Patients during chronic treatment and eating a normal diet revealed significant changes in lipids, but when we reevaluated the groups of children treated with carbamazepine and phenobarbital when they were eating a low-fat diet and reevaluated the three groups of children 3 months after the end of treatment, a complete return to normal of all parameters was observed. These data demonstrate that the changes induced by these drugs are transient, reversible, and influenced by a low-fat diet. ( J Child Neurol 2006;21:48—53).
Short- and Long-Term Outcome of Severe Neonatal Nonhemolytic Hyperbilirubinemia
Authors: Wong Virginia , Chen Wen-Xiong , Wong Kar-Yin
Published: June 2007

We studied the effects of hyperbilirubinemia on brainstem auditory pathways and neurodevelopmental status in 99 fullterm neonates with severe nonhemolytic hyperbilirubinemia (total serum bilirubin level = 301 to 500 µmol/L) born between 1995 and 2000. These were divided into three groups: group 1, moderate hyperbilirubinemia ( n = 30; mean maximum total serum bilirubin = 320.7 µmol/L or 18.9 mg%); group 2, severe hyperbilirubinemia ( n= 63; mean maximum total serum bilirubin = 369.0 µmol/L or 21.7 mg%); and group 3, super hyperbilirubinemia ( n = 6; mean maximum total serum bilirubin = 457.2 µmol/L or 26.9 mg%). All received phototherapy, and three neonates also had exchange transfusion. Initial brainstem auditory evoked potentials were recorded in all at the mean age of 3.1 months (range 1—9 months). At initial assessment, only nine neonates (9.1%) had abnormal brainstem auditory evoked potentials. All except two returned to normal at 2 years. These two children had a hearing threshold at 50 nHL. We then compared serial brainstem auditory evoked potentials until 2 years for these nine cases with initial abnormal brainstem auditory evoked potentials, and nine cases with initial normal brainstem auditory evoked potentials were recruited for comparison. All 99 children had regular physical, neurologic, visual, and auditory assessments every 3 to 6 months until the age of 3 years. There was no significant correlation between demographic factors (gender, gestational age, or birthweight), maximum total serum bilirubin, and total serum bilirubin at discharge with an abnormal brainstem auditory evoked potential. There was no significant difference in the rate of brainstem auditory evoked potential abnormalities between the three groups: moderate (10%), severe (7.9%), and super (16.7%). All had normal neurodevelopmental status at 3 years. Only two children had transient mild motor delay and hypotonia, and both had normal brainstem auditory evoked potentials. There was no relationship between the abnormalities of the brainstem auditory evoked potentials and neurodevelopmental status. None of the three children receiving exchange transfusion had abnormal brainstem auditory evoked potentials or neurodevelopmental outcome. With the neurophysiologic and clinical outcomes in our cohort with severe nonhemolytic hyperbilirubinemia, we propose that the toxic effect of hyperbilirubinemia on auditory brainstem pathways might be transient provided that prompt treatment is initiated. ( J Child Neurol 2006;21:309—315; DOI 10.2310/7010.2006.00058).
Diagnosing Sotos Syndrome in the Setting of Global Developmental Delay and Macrocephaly
Authors: Srour Myriam , Mazer Barbara , Shevell Michael I.
Published: June 2007

Sotos syndrome (cerebral gigantism) is characterized by macrocephaly, global developmental delay, characteristic facial dysmorphology, and a markedly advanced bone age. The purpose of this study was to describe the prevalence of Sotos syndrome in a consecutive series of patients with global developmental delay, which might modify our laboratory evaluation approach to this particular clinical situation. For a 10-year inclusive interval, the case records of all consecutive patients referred for global developmental delay in a single pediatric neurology practice were reviewed. Patients with macrocephaly were defined by an age- and gender-adjusted head circumference greater than or equal to the 98th percentile. Possible clinical factors associated with eventual diagnosis of Sotos syndrome in this group of macrocephalic children were tested with a two-tailed Fisher exact test. Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly. Of these 18 children, 3 (17%) had an advanced bone age and were diagnosed with Sotos syndrome. In patients with global developmental delay and concomitant macrocephaly, Sotos syndrome is not uncommon. Assessment of bone age is a simple screening test for diagnosis of this entity and should be undertaken routinely in children with macrocephaly and global developmental delay even in the absence of other distinctive syndromic clinical features. ( J Child Neurol 2006;21:287—290; DOI 10.2310/7010.2006.00090).
Electroencephalographic (EEG) Findings in Posterior Reversible Encephalopathy Associated With Immunosuppressants
Authors: Natsume Jun , Sofue Ayako , Yamada Akio , Kato Koji
Published: June 2007

Posterior reversible encephalopathy has been reported in patients who receive immunosuppressants. Compared with radiologic studies, electroencephalographic (EEG) findings are not well described. We performed EEG serially in three children who suffered from posterior reversible encephalopathy associated with tacrolimus or cyclosporine. EEG showed continuous focal rhythmic activities in the acute period. EEG findings normalized after the clinical manifestations had disappeared. We conclude that EEG is useful for the diagnosis and follow-up of posterior reversible encephalopathy. (J Child Neurol 2006;21: 620—623; DOI 10.2310/7010.2006.00147).
Epileptic Features of Patients With Unilateral and Bilateral Schizencephaly
Authors: Lopes Camila F. , Cendes Fernando , Piovesana Ana Maria S. G. , Torres Fábio , Lopes-Cendes Iscia , Montenegro Maria Augusta , Guerreiro Marilisa M.
Published: June 2007

The extent of cortical maldevelopment might correlate with the severity of the clinical manifestation, such as cognitive delay or motor dysfunction. The objective of this study was to investigate the clinical features of epilepsy in patients with unilateral and bilateral schizencephaly. We studied 44 consecutive patients with schizencephaly diagnosed by magnetic resonance imaging (MRI). The epileptic features were analyzed in detail: frequency of epilepsy, median age at onset of epilepsy, semiology of seizures, characteristic features of electroencephalographic (EEG) abnormalities, epileptic syndromes, and antiepileptic drug treatment. We also verified the presence of motor disabilities. Data were analyzed according to the presence of unilateral or bilateral clefts and to the presence of open-lip versus closed-lip schizencephaly. We used the chi-square test and Fisher exact test for statistical analysis. Twenty-four patients had a unilateral cleft (group 1) and 20 patients had bilateral clefts (group 2). Ages ranged from 1 to 37 years (mean 10.6 years). Epilepsy was present in 15 (63%) patients in group 1 and in 11 (55%) patients of group 2; a history of status epilepticus occurred in 13% of group 1 and in 27% in group 2; and a history of clusters of seizures occurred in 40% of group 1 and in 45% of group 2. Eight (53%) patients in group 1 and 6 (54%) patients in group 2 were in monotherapy. Ten (67%) patients in group 1 and 7 (64%) patients in group 2 had seizures controlled with antiepileptic drugs. The frequency of EEG abnormalities was similar between groups (75% and 85%, groups 1 and 2, respectively). Statistical analysis showed no difference between the two groups in the variables mentioned above. However, motor disability was significantly more frequent and more severe in group 2. Regarding the type of schizencephaly (open lip versus closed lip), there was no difference in the frequency of patients with epilepsy, and severe motor deficit was more frequently found in bilateral and open-lip schizencephaly. The extent of the cortical maldevelopment in patients with schizencephaly does not correlate with the severity of the clinical and EEG features of epilepsy, unlike the cognitive and motor manifestations. In addition, the type of schizencephaly (open lip versus closed lip) does not correlate with the presence of epilepsy or seizure control, unlike motor deficit. (J Child Neurol 2006;21:757—760; DOI 10.2310/7010.2006.00173).
Topical Review: Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infection: Sydenham Chorea, PANDAS, and PANDAS Variants
Authors: Pavone Piero , Parano Enrico , Rizzo Renata , Trifiletti Rosario R.
Published: June 2007

Streptococcal infection in children is usually benign and self-limited. In a small percentage of children, prominent neurologic and/or psychiatric sequelae can occur. Sydenham chorea is the best defined and best recognized. PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) is a well-defined syndrome in which tics (motor and/or vocal) and/or obsessive-compulsive disorder consistently exacerbate in temporal correlation to a group A β-hemolytic streptococcal infection. PANDAS constitutes a subset of children with tics, Tourette syndrome, and obsessive-compulsive disorder. In addition to strictly defined PANDAS, we and others have recognized several PANDAS variants, including adult-onset variant, a dystonic variant, a myoclonic variant, and a ``chronic'' PANDAS variant. The nosology and classification of these entities are rapidly evolving. The recognition that some pediatric neurobehavioral syndromes have infectious and/or immunologic triggers points to important new avenues of disease treatment. In this review, we summarize this complex and rapidly evolving area of clinical research. (J Child Neurol 2006;21:727—736; DOI 10.2310/7010.2006.00182).
Outcome of Children With Juvenile Absence Epilepsy
Authors: Tovia Eliel , Goldberg-Stern Hadassa , Shahar Eli , Kramer Uri
Published: June 2007

The incidence and natural history of childhood absence epilepsy are well documented, but those of juvenile absence epilepsy are poorly delineated. We conducted a retrospective chart study to evaluate the incidence and outcome of patients with juvenile absence epilepsy by retrieving the medical records of consecutive patients with juvenile absence epilepsy who were evaluated in three pediatric neurology outpatient clinics in Israel. Inclusion criteria included the onset of epilepsy after the age of 10 years and follow-up until at least 15 years of age. The patients with an electroencephalogram (EEG) suggestive of myoclonic epilepsy (polyspike and wave) were excluded from the study. Seventeen patients (10 female and 7 male) fulfilled the inclusion criteria for juvenile absence epilepsy. They presented with epilepsy at a mean age of 11.94 years (range 10—16.5 years). The mean duration of follow-up was 6.05 years (range 2—12 years). Five patients (29.4%) had a family history of epilepsy. All 17 patients had a normal neurodevelopmental status. Eight patients (47%) experienced generalized tonic-clonic seizures. At follow-up, eight patients (43.7%) were seizure free. Only three (37.5%) of the patients who experienced generalized tonic-clonic seizures were seizure free during follow-up compared with five (55.5%) patients without generalized tonic-clonic seizures. Our results indicate that the outcome of patients with juvenile absence epilepsy is less favorable than children with childhood absence epilepsy and that the presence of generalized tonic-clonic seizures is a predictor for poorer outcome. (J Child Neurol 2006;21:766—768; DOI 10.2310/7010.2006.00190).
Deep Sedation With Propofol in Patients With Rett Syndrome
Authors: Tofil Nancy M. , Buckmaster Mark A. , Winkler Margaret K. , Callans Beth H. , Islam Monica P. , Percy Alan K.
Published: June 2007

Herein we present the largest retrospective case-control series of deep sedation in patients with Rett syndrome, including discussion of the unique aspects of Rett syndrome that make these patients at high risk for sedation. Twenty-one patients with Rett syndrome and 21 control patients who received propofol for deep sedation to facilitate lumbar puncture were compared. Patients with Rett syndrome required significantly less propofol than control patients when standardized for weight and the duration of the procedure (P = .004). Seven of the 21 patients with Rett syndrome compared with none of the control patients experienced a serious adverse event, most of which were due to prolonged apnea (P = .004). All adverse events were transient, and all patients returned to their baseline after the procedure was completed. Sedation of patients with Rett syndrome is associated with a relatively high rate of complications and should not be done without appropriate personnel available who recognize the risks of sedating this unique population. (J Child Neurol 2006;21:857—860; DOI 10.2310/7010.2006.00051).
Acute Childhood Hemiplegia Associated With Chickenpox and Elevated Anticardiolipin Antibody
Authors: Aydin Kursad , Sert Ahmet , Güze Eylem Atilgan , Kiresi Demet A.
Published: June 2007

Chickenpox is a common infection of childhood. Central nervous system complications, such as cerebellar ataxia and meningoencephalitis, are estimated to occur in less than 1% of cases of chickenpox. Although transverse myelitis and hemiplegia have also, although rarely, been reported, hemiplegia associated with chickenpox and elevated anticardiolipin antibody has not been reported in the literature. We report the case of a 2.5-year-old boy who developed a right hemiplegia 3 weeks after the onset of a primary varicella infection. The serum level of anticardiolipin antibody IgG was markedly elevated. Brain magnetic resonance imaging (MRI) revealed an infarction involving the left globus pallidus, caudate nucleus, and posterior leg of the internal capsule. Laboratory studies ruled out all known causes of stroke. Neurologic signs and symptoms slowly improved with supportive treatment. Varicella infection should be considered one of the possible causes of acute ischemic strokes in children. Usually, two or more risk factors are detected in children with ischemic strokes, and we suggest that all possible causes of strokes be investigated in children with ischemic strokes. (J Child Neurol 2006;21:890—893; DOI 10.2310/ 7010.2006.00206).
Should We Routinely Perform Blood Tests in Children With Uncontrolled Seizures?
Authors: Durmaz Cemile , Kinik Sibel Tulgar , Özyürek Emel , Erol Iknur , Canan Ouz , Alehan Füsun
Published: June 2007

The value of biochemical tests in treating patients with uncontrolled seizures is unclear. We present the case of an 8-year-old boy with uncontrolled seizures receiving two antiepileptic drugs. He had been diagnosed with recurrent herpes encephalitis and treated with acyclovir 1 year previously. Laboratory blood analyses, performed because of his uncontrolled seizure episodes, revealed hypocalcemia. Hypoparathyroidism was detected with elevated levels of phosphorus and low levels of parathormone. In conclusion, blood tests, especially to measure calcium, in children with uncontrolled seizures are suggested. Hypoparathyroidism causing hypocalcemia, as present here, is not a rare occurrence. (J Child Neurol 2006;21:896—898; DOI 10.2310/7010.2006.00207).
Popliteal Angle in Infants With West Syndrome
Authors: Okumura Akihisa , Kato Toru , Yumi Sei  , Suzuki Toshihiko , Morishita Yoshihiro , Watanabe Kazuyoshi
Published: June 2007

The aim of this study was to clarify the relationship between neurologic findings and outcome of patients with West syndrome, focusing on the popliteal angle. The complete neurologic examination, including an assessment of the popliteal angle and muscle tone, was performed on 45 patients with West syndrome. A tight popliteal angle was determined when it was 120 degrees or less. In all 45 patients, abnormal muscle tone was not correlated with any variables. A tight popliteal angle was correlated with seizure persistence, cerebral palsy, and abnormality on magnetic resonance imaging (MRI), as well as severe developmental delay. When limited to the patients with developmental delay, a tight popliteal angle was correlated with severe developmental delay, cerebral palsy, and MRI abnormality, although abnormal muscle tone was not correlated with any items. In the delay group, eight patients had a tight popliteal angle with normal muscle tone. Among them, severe developmental delay was seen in seven (88%), seizure persistence in five (63%), and MRI abnormality in five (63%). These results suggest that a tight popliteal angle might be an indicator of poor neurologic outcome in patients with West syndrome. (J Child Neurol 2006;21:898—900; DOI 10.2310/7010.2006.00219).
Intravenous Immunoglobulin for Guillain-Barré Syndrome: How Effective?
Authors: Tasdemir Haydar Ali , Dilber Cengiz , Kanber Yilmaz , Uysal Serap
Published: June 2007

Guillain-Barré syndrome is an acute inflammatory demyelinating neuropathy characterized by progressive symmetric polyradiculoneuritis, predominantly manifested by weakness and areflexia. In this article, we report our findings in 25 children treated with intravenous immunoglobulin and compare them with the remaining 30 children who received supportive care only. Only supportive care was given to 30 children who were not able to receive intravenous gammaglobulin because of shortcomings in intravenous gammaglobulin availability owing to a poor import during those years. Twenty-five patients were treated with intravenous gammaglobulin; they received intravenous gammaglobulin 0.4 g/kg/day for 5 consecutive days. Seventeen of the intravenous gammaglobulin group had received intravenous gammaglobulin within 10 days after the first symptoms, and eight of them had received intravenous gammaglobulin after the first 10 days. The average time elapsed for the symptoms to reach the maximum level was 6.9 (range 4—12) days in patients receiving intravenous gammaglobulin in the first 10 days, and it was significantly shorter than the time elapsed for the supportive care group (6.9 versus 8.8 days, respectively) (P < .05). Admission to the hospital after the first symptom, disability grade, time to improve in disability grade, the period of hospitalization, and mortality were not different in the intravenous gammaglobulin and supportive care groups (P > .05). Our suggestion for intravenous gammaglobulin treatment in Guillain-Barré syndrome is that if the patient has risk factors for respiratory insufficiency, then the treatment should be started. We more confidently carry out the follow-up of these patients after the results of this study. In conclusion, although it has been reported that intravenous gammaglobulin facilitates improvement in the disease and the decrease in mortality in children with Guillain-Barré syndrome, it has been mentioned in some studies that the intravenous gammaglobulin treatment was not better than supportive care, as in our study. However, further studies are essential to determine when intravenous gammaglobulin should be given to patients having which clinical and laboratory findings. (J Child Neurol 2006;21:972—974; DOI 10.2310/ 7010.2006.00214).
Pattern of Childhood Epilepsies With Neuronal Migrational Disorders in Oman
Authors: Koul Roshan , Jain Rajeev , Chacko Alexander
Published: June 2007

Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing evaluation for developmental delay and epilepsy formed the subjects of the study. Data were analyzed from children found to have neuronal migrational disorders on imaging (computed tomography [CT] or magnetic resonance imaging [MRI]). There were 40 cases of neuronal migrational disorders. Corpus callosum agenesis and lissencephaly or pachygyria formed the major group. There were 22 cases of corpus callosum agenesis, 12 of lissencephaly or pachygyria, 2 of schizencephaly, and 1 each of polymicrogyria, holoprosencephaly, hydranecephaly, and hemimegalencephaly. Nineteen of these 40 (47.5%) cases of neuronal migrational disorders had epilepsy. The break-down was 8 of 22 cases of corpus callosum agenesis (36%), 7 of 12 (58.3%) cases of lissencephaly or pachygyria, and 1 each of polymicrogyria, hydranencephaly, and hemimegalencephaly. The family history of developmental delay, similar to the index case, was present in two children with lissencephaly. However, the brain imaging did not reveal the abnormality. The types of seizures were infantile spasms in five, tonicclonic in nine, myoclonic in two, partial in one, and mixed in five. Nineteen of 40 cases of neuronal migrational disorders had epilepsy. Only 2 of 19 (10.5%) with epilepsy had good seizure control. This raises the possibility of more and more surgical intervention in the management of such cases. Neuronal migrational disorders are related to exogenous and genetic factors from the 6th to 26th weeks of gestation. Molecular and genetic research is defining the mechanism of these disorders. This could help in early diagnosis, prevention, and eventual gene therapy in such conditions. (J Child Neurol 2006;21:945—949; DOI 10.2310/7010.2006.00216).
Exchange Transfusion: A Low-Cost Alternative for Severe Childhood Guillain-Barré Syndrome
Authors: Baranwal Arun K. , Ravi Ravi N.M. , Singh Rupa
Published: June 2007

The high cost and nonavailability of plasmapheresis and intravenous immunoglobulin are prohibitive for the treatment of Guillain-Barré syndrome in resource-poor settings. Exchange transfusion can be an alternative therapy for severe disease in children. The effectiveness of exchange transfusion was evaluated in nine children (median age 6 years) with severe Guillain-Barré syndrome (functional disability score ≥ 4). All patients had lower limb weakness for a median duration of 4 days (range 2—16 days). Upper limb weakness (n = 8), respiratory involvement (n = 7), pooling of oral secretions (n = 3), and facial palsy (n = 1) were other motor signs. Four children developed respiratory failure; three were ventilated. Other clinical features included leg pains, meningismus and Lasègue's sign, backache, excessive sweating, and hemodynamic instability. Two children had albuminocytologic dissociation on cerebrospinal fluid analysis. Nerve conduction velocity testing was done in three patients; two had suggestive findings. One course of exchange transfusion could be performed in seven patients. Six children (86%) responded well with one or more of the following: a halt in progressive motor weakness, improvement in leg pains, meningismus, and straight-leg raising within 24 to 48 hours; one could be weaned off the ventilator by 60 hours. All had improvement in motor power of at least one muscle group by one grade within 3 to 7 days. Two patients died, whereas five (71% of the treatment group) were discharged and could walk independently by 4 months. Two untreated ones had died. Exchange transfusion seems to be a safe and effective alternative for severe Guillain-Barré syndrome. It should be offered whenever intravenous immunoglobulin or plasmapheresis is not available or affordable. Replacement of immunosaturated red cells, removal of activated T cells and monocytes, and transient thrombocytopenia are possible explanations for its effectiveness in addition to removal of pathogenic autoantibodies, immune complexes, cytokines, and complements. (J Child Neurol 2006;21:960—965; DOI 10.2310/7010.2006.00224).
Childhood-Onset Spastic Paraplegia With NIPA1 Gene Mutation
Authors: Bien-Willner Ricardo , Sambuughin Nyamkhishig , Holley Heather , Bodensteiner John , Sivakumar Kumaraswamy
Published: June 2007

Hereditary spastic paraplegia is a heterogeneous group of inherited neurodegenerative disorders in which the predominant clinical feature is gait disturbance owing to spasticity and weakness of the lower limbs. Autosomal dominant hereditary spastic paraplegia is the predominant form of the disorder. To date, 10 autosomal dominant hereditary spastic paraplegia gene loci and genes for 6 of them have been identified. Spastic paraplegia 6, with a typical teenage onset and considered to be one of the more severe forms of the disease, is due to mutations in the gene NIPA1. We report a childhood-onset, aggressive, spastic paraparesis in a North American family with a c.316G>A mutation of the NIPA1 gene, confirming c.316 as a mutational hot spot. (J Child Neurol 2006;21:974—977; DOI 10.2310/ 7010.2006.00236).
Acute Renal Failure in Critically Ill Patients
Authors: Ellison David H. , Bia Margaret Johnson
Published: June 2007

Acute renal failure is an important cause of morbidity in critically ill patients. Acute renal failure results from pre renal and postrenal causes and, most importantly, acute tubular necrosis (ATN). Although it is known that renal toxins and renal ischemia are the most common causes of ATN in hospitalized patients, the exact pathogenesis of this entity is still not fully understood. Patients in the intensive care unit are at high risk for ATN because of hemodynamic instability, the administration of neph rotoxic antibiotics or chemotherapeutic agents, and ex posure to radiographic contrast agents. The acquired immunodeficiency syndrome is also associated with an increased risk of renal failure development, either from complications of the disease itself or from its treatment. Many consequences of acute renal failure such as vol ume overload, acidosis, hyperkalemia, and serositis can be managed adequately with peritoneal dialysis, hemo dialysis, or a newer technique, continuous arteriove nous hemofiltration. Despite improvements in treat ment, however, the mortality of ATN remains high. In this review, we recommend measures to prevent ATN in certain clinical situations that commonly occur among critically ill patients. We also review therapeutic options for treating patients in whom acute renal failure devel ops and discuss newer developments that may begin to reduce the excessive morbidity associated with ATN.
Pericardial Disease in the Intensive Care Setting
Authors: Thomas James D. , LeWinter Martin M.
Published: June 2007

Pericardial disease commonly occurs in the intensive care setting, but its timely diagnosis may be missed. The normal pericardium serves as a lubricated sac within which the heart may beat with minimal friction. The effect of the pericardium on cardiac filling at normal diastolic pressures is not clear; however, it may limit cardiac dilation in states of acute volume overload such as mitral regurgitation and right ventricular infarction.

Pericardial disease may be divided into two catego ries : those cases that result from inflammation of the pericardium (pericarditis), and those cases in which a pericardial effusion or the thickened pericardium itself causes hemodynamic changes (tamponade and constric tion). Simple pericarditis should not lead to any hemo dynamic alteration other than tachycardia. In both tam ponade and constriction, the jugular venous pressure is elevated with low forward cardiac output; tamponade typically shows pulsus paradoxus, whereas constric tion more frequently shows Kussmaul's sign.

The electrocardiogram may show diffuse ST segment elevation with PR segment depression in pericarditis; a large pericardial effusion, even with early tamponade, may not by itself cause any changes in the electrocar diogram. The echocardiogram is invaluable in diagnos ing the presence of a pericardial effusion and recogniz ing tamponade physiology (diastolic collapse of the right ventricular outflow tract and invagination of the right atrium).

In selected patients, simple pericarditis may be managed outside of the hospital. Anyone suspected of having a hemodynamically significant pericardial effu sion should be hospitalized, usually in an intensive care unit. Pericardiocentesis should be performed under op timal monitoring conditions, although in an emergency, blind pericardiocentesis may be attempted. Recognition of the cause of the pericardial process will guide its treatment. Management of selected pericardial syn dromes is discussed later in this review.
Pediatric Bone Marrow Transplantation: Intensive Care Management
Authors: Shannon Kevin M. , Cowan Morton J. , Matthay Katherine K.
Published: June 2007

Bone marrow transplantation (BMT) has assumed in creasing importance in the treatment of bone marrow failure, hematopoietic malignancies, congenital immuno deficiencies, and solid tumors. Children undergoing BMT are at high risk for infection and hemorrhage dur ing the period of aplasia. In addition, life-threatening complications of circulatory, pulmonary, gastrointesti nal, hepatic, and renal function are common and fre quently require intensive supportive care. This review provides an overview of pediatric BMT that focuses on management problems relevant to intensive care. Thor ough pretransplantation assessment of underlying organ dysfunction is mandatory before undertaking BMT. The complications associated with preconditioning regi mens that use total body irradiation and high doses of ablative chemotherapy are described. Finally, problems involving individual organs are discussed by systems. The challenge of improving the results of BMT in the treatment of childhood malignant and hematopoietic disorders depends, in large part, on successful preven tive measures and good management of complications that occur immediately before and within the first 100 days after transplantation. As BMT is indicated for treat ment of an increasing number of diseases, more patients will require the care of intensivists familiar with trans plantation-related complications.
Diaphragm Pacing for Ventilatory Insufficiency
Authors: Marcy Theodore W. , Loke Jacob S. O.
Published: June 2007

Prolonged ventilatory support by phrenic nerve stimula tion (diaphragm pacing) has been developed into a use ful therapeutic technique over the past two decades. The benefits of diaphragm pacing to patients with respi ratory insufficiency resulting from central alveolar hy poventilation, and respiratory paralysis associated with quadriplegia, have led physicians to consider diaphragm pacing in patients with respiratory insufficiency who are dependent on ventilatory support. Some of these pa tients are initially seen in the intensive care unit because of respiratory failure or arrest. We discuss the evaluation and selection of candidates for diaphragm pacing.
Management of Renal Complications of Liver Disease
Authors: Epstein Murray , Perez Guido , Oster James R.
Published: June 2007

Included among the most important renal complica tions of liver disease is progressive sodium retention leading to the formation of edema and ascites and the hepatorenal syndrome (HRS). When ascites is refractory to conventional treatment, the use of invasive proce dures such as reinfusion or dialytic ultrafiltration of as cites or the peritoneovenous shunt may be indicated. The possibility that continuous arteriovenous hemo filtration may be useful in removing fluid in patients who would not otherwise tolerate traditional hemodialysis has, because of its recent availability, been raised. Ther apy of HRS continues to be one of the most intriguing and vexing problems in clinical medicine. The use of hemodialysis with polyacrylonitrile membranes may be helpful in certain patients with HRS, especially in those with acute reversible liver injury. Although the peri toneovenous shunt has been reported to correct the renal functional disturbance, the results of the only two controlled studies available are inconclusive.

Liver disease is frequently accompanied by a variety of alterations in renal function and electrolyte me tabolism [1]. These complications of liver disease range in severity from the clinically unimportant to problems requiring prompt and vigorous thera peutic intervention. In the present review, empha sis is placed on the management of the abnor malities of renal sodium handling and on acute intrinsic renal failure (ATN) and the hepatorenal syndrome (HRS), which often supervene in patients with severe liver disease. The reader is referred to Epstein [1,2] and Perez and colleagues [3] for more detailed expositions of the use of dialysis and ultrafiltration in treating renal complications of liver disease.
Mechanical Ventilation: Analysis of Increasing Use and Patient Survival
Authors: Swinburne Andrew J. , Fedullo Anthony J. , Shayne David S.
Published: June 2007

To quantitate and assess an increase in the use of me chanical ventilation, we retrospectively analyzed the records of 1,589 patients treated with mechanical ven tilation. Between 1974 and 1983, there was a 156% increase in the number of patients treated each year. There were significant increases in the number of pa tients with cardiac pulmonary edema (p < 0.001), adult respiratory distress syndrome (p < 0.01), chronic ob structive lung disease (p < 0.005), neuromuscular dis ease (p < 0.025), and cardiopulmonary arrest (p < 0.005). Regression analysis versus time shows that older patients (p < 0.025) and more chronically ill patients (p < 0.05) are now being treated with mechanical ven tilation. Overall survival was 41.4%, and yearly survival rates remained constant during the ten-year period. Sur vival was 55.3% for patients with cardiogenic pulmo nary edema, 34.1 % for the adult respiratory distress syn drome, 65.7% for chronic obstructive lung disease, 90.5% for asthma, 38.7% for neuromuscular disease, 92.1% for drug overdose, 33.7% for pneumonia, and 19.1 % for cardiopulmonary arrest. Studies are needed that will determine predictors of survival from acute respiratory failure for patients with chronic heart and lung disease. Such predictors will help physicians coun sel their patients when making the decision to be treated with mechanical ventilation in the event of re spiratory failure.
Diagnosis and Management of Acute Congestive Heart Failure in the Intensive Care Unit
Authors: Francis Gary S. , Archer Stephen L.
Published: June 2007

Congestive heart failure has emerged as an important public health problem in the United States and is pres ently the number one Diagnostic Related Group for inpatients over the age of 65. Patients admitted to an intensive care or coronary care unit because of de compensated heart failure are frequently older and frequently have multiple serious medical problems. In addition to standard intensive care practices, it is often important to characterize systolic and diastolic proper ties qualitatively with echocardiography. Hemodynamic monitoring is essential for patients with hypotension, oliguria, or questionable left ventricular filling pressures. A combination of loop diuretics, intravenous vaso dilators, and inotropic agents will often be necessary to correct severe underlying hemodynamic abnormalities, and an understanding of basic left ventricular systolic and diastolic function is essential to the optimal use of these potent agents. Manipulation of loading conditions and contractile state are important considerations, and pharmacological interventions should be targeted to ward specific abnormalities in individual patients. Once patients are stabilized, switching to orally active inotro pic and vasodilator agents can usually be accomplished over a 24-hour period, allowing for a total stay of 48 to 72 hours in the intensive care unit.

Congestive heart failure (CHF) is rapidly becoming a public health problem of major proportions [1- 5]. As the American population continues to age, we can expect greater numbers of patients to be admitted to intensive care units (ICUs) and coro nary care units (CCUs) with progressive decompen sation of previously stable CHF. Our current ap proaches to the diagnosis and management of acute heart failure are summarized; however, the care of such patients must always be highly individualized.