Journal of Pediatric Neurology - Volume 10, issue 3

Authors: Roos, Andreas | Schwanitz, Gesa | Diepolder, Irmgard | Senderek, Jan | Eggermann, Katja

Article Type: Research Article

Abstract: Marinesco-Sjögren syndrome (MSS) is a multiorgan disorder firstly described in 1931 by Gheorge Marinescu. During the last seven decades, research into the clinical picture of MSS has led to the description of varying MSS phenotypes and since 2005, it is known that mutations within the SIL1 gene cause MSS in a part of these patients. Among these "SIL1-related MSS cases", "classical and non-classical phenotypes" are distinguished. All "SIL1-related MSS cases" show at least an ataxia due …to cerebellar atrophy, congenital or infantile cataracts and a progressive myopathy as well as mental impairment ("classical MSS phenotype"). Additional clinical features are for example in some cases short stature, hypogonadism, scoliosis, nystagmus and strabismus ("non-classical MSS phenotype"). However, the primary pathology has remained unknown in non-SIL1-related MSS cases. As the clinical features detected in "classical MSS phenotype" and "non-classical MSS phenotype" may also be associated with cryptic subtelomeric rearrangements and as a frequent localization of for example cataract-related genes/loci within these regions is proven, we performed subtelomere screening in a series of 23 patients with "non-SIL1-related non-classical MSS phenotypes" presenting with at least three features like early cataracts, mental retardation, brain malformations, muscular hypotonia, growth retardation and skeletal abnormalities. Karyotype and the SIL1 coding sequence were normal in all cases. Subtelomere screening by multiplex ligation-dependent probe amplification did not identify any subtelomeric imbalances. Therefore, a causative role of these regions in manifesting "non-SIL1-related non-classical MSS phenotypes" seems to be unlikely. Show more

Keywords: Marinesco-Sjögren syndrome, subtelomere-screening, mental retardation, congenital cataract, ataxia, muscular hypotonia

DOI: 10.3233/JPN-2012-0557

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 167-172, 2012

Authors: Sharma, Mehar Chand

Article Type: Research Article

Abstract: The aim of this study was to assess the diagnostic utility of skin biopsy in the diagnosis of Ullrich congenital muscular dystrophy. Paired skin and muscle biopsies were, studied in the three cases of Ullrich disease. Immunostaining for collagen VI was performed on both test and control biopsies. Staining pattern in skin biopsies was compared with the muscle biopsies. Immunoblot was performed to validate the results. Immunostaining for collagen VI was absent in dermis in skin …biopsies of all the three patients of Ullrich disease and corroborated with findings of muscle biopsies. Immunoblot revealed absence of collagen VI band in all the three cases. Our study suggests that skin biopsy can be very useful for the diagnosis of Ullrich disease. Skin biopsy being less traumatic and less invasive is easy to perform in children, obviates the need for sedation, and is cosmetically superior to muscle biopsy. Show more

Keywords: Collagen VI, muscle biopsy, skin biopsy, Ullrich disease, muscular dystrophy

DOI: 10.3233/JPN-2012-0562

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 173-180, 2012

Authors: Goyal, Saurabh | Kohli, Neera | Jain, Amita | Dixit, Pratima | Chandrakanta, | Kumar, Rashmi

Article Type: Research Article

Abstract: Tuberculous meningitis (TBM), the severest form of tuberculosis, continues to affect children in India. The disease has a high rate of mortality and disabling consequences. Scarce literature exists on prognostic indicators in children and none on radiological prognostic features. Our aim is to delineate clinical, laboratory and radiological prognostic indicators in childhood TBM. Children with TBM diagnosed according to pre-decided criteria and admitted to a teaching hospital in Northern India were enrolled for study. …Demographic, clinical, laboratory and radiologic features at admission were charted. Patients were followed up to 3 months from discharge or until death. Features at admission were compared between those with good and bad outcome by univariate and logistic regression analysis. A total of 53 of 68 enrolled children were followed for 3 months. Significant factors on univariate analysis were age, headache, Glasgow coma score (GCS), muscle tone, extensor plantar response, decerebrate posturing, clinical stage of disease and infarcts on computerized tomography scan head. On logistic regression, only age ⩽ 3 yr, GCS < 10 and increased muscle tone were significantly associated with bad outcome. Younger age, lower GCS and increased muscle tone at initial diagnosis are significant independent predictors of bad outcome in TBM in children. Show more

Keywords: Tuberculous meningitis, logistic regression, prognostic indicators, Glasgow coma scale

DOI: 10.3233/JPN-2012-0564

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 181-186, 2012

Authors: Okposio, Matthias M. | Sadoh, Wilson E. | Ofovwe, Gabriel E. | Onyiriuka, Alphonsus N.

Article Type: Research Article

Abstract: Febrile convulsion is one of the most common childhood neurological disorders. The underlying mechanism remains unclear; however, some reports have suggested that low serum zinc levels may be implicated in its pathogenesis. This case-control study was carried out to determine the serum zinc levels in Nigerian children with febrile convulsions in comparison with matched febrile controls without convulsions. Ninety children with febrile convulsions and 90 matched febrile children without convulsions were recruited. Serum zinc was …measured using Atomic absorption spectrophotometer (Perkin-Elmer 306 USA). The data was analyzed with SPSS version 16 statistical package and student t-test was employed to compare mean serum zinc between the two groups. The mean serum zinc level of children with febrile convulsion (58.7 ± 25.4 μg/dL) was significantly lower than that of febrile controls (90.3 ± 33.0 μg/dL), (P < 0.0001). Hypozincemia may indeed play a role in the occurrence of febrile convulsion. Show more

Keywords: Zinc, febrile convulsion, Nigerian, children

DOI: 10.3233/JPN-2012-0566

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 187-191, 2012

Authors: Bener, Abdulbari | Kurdi, Bader | Hoffmann, Georg F. | Caksen, Huseyin | Teebi, Ahmad

Article Type: Research Article

Abstract: The wide variety in incidence rates of neural tube defects (NTD) in the Arabian region have been attributed to environmental, dietary and genetic factors. No previous study has been conducted in the State of Qatar to document the incidence and trends of NTD. The aim of this study is to determine the incidence and trends of NTD over a period of 25 yr in the State of Qatar. This is a retrospective hospital based cohort study. The survey was carried …out in the main territory hospital in the State of Qatar. The study was conducted from 1985 to 2009 with a total of 302,049 newborns at the Women's Hospital in Qatar screened for NTD. NTD were defined according to the International Classification of Diseases, Tenth Revision. Study parameters included age, gender, ethnicity, parental consanguinity, and residential area. The combined prevalence of NTD (total myelomeningocele and anencephaly) during the 25 yr period was 1.09 per 1,000 births. The prevalence of anencephaly was 0.36 per 1,000 births. There were 131 (42.1%) males and 180 (57.9%) female newborns with NTD, corresponding to incidence of 0.899 and 1.289 per 1,000 in male and female newborns, respectively. This difference was significant (P < 0.001). Consanguinity was seen in 36.7% of the parents. The present study revealed that Qatar has a relatively low incidence of NTD, which is comparable to neighboring countries in the Arabian Gulf region. High rates of consanguinity and lack of periconceptual folic acid intake among mothers appear to be the major factors contributing to NTD in Qatar. Show more

Keywords: Incidence, neural tube defects, birth weight, gestational age, consanguinity, vitamin B12, folate

DOI: 10.3233/JPN-2012-0567

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 193-198, 2012

Authors: O'Callaghan, Mark | Nyberg, Eric M. | Ree, Alexander | Borges, Manuel Thomas | Bert, Robert J.

Article Type: Research Article

Abstract: Linear sebaceous nevus syndrome (LNSS) is a rare neurocutaneous disorder associated with mental retardation, linear sebaceous nevus of Jadassohn and seizures. Characterized by Feuerstein and Mims in 1962, this disorder has been, grouped with other epidermal nevus syndromes and the phakomatoses. Five distinct epidermal nevus syndromes have been described and characterized by their epidermal nevi and organ system involvement, particularly, brain, eyes and skeleton. LNSS has been associated with hemimegalencephaly and other …non-LNSS forms of epidermal nevus syndromes have been associated with hemiatrophy. We present a case of LNSS with diagnostic dermatologic, pathologic and clinical findings but unique computerized tomography and magnetic resonance imaging findings: an undersized hemisphere, unusual draining veins, thinning of the left temporal and occipital cortices ipsilateral to the linear nevus and left frontal bone focal scalloping. We have not found the combination of a vascular anomaly and undersized hemisphere specifically described with LNSS, although a few cases of cerebrovascular abnormality have been associated with LNSS. We discuss the radiologic findings in context of known embryology to favor hemihypoplasia over hemiatrophy. We hope that this case report will lead to further investigations in the pathophysiology and genetics of this disorder. Show more

Keywords: Phakomatosis, hemihypoplasia, linear nevus sebaceous syndrome

DOI: 10.3233/JPN-2012-0558

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 199-203, 2012

Authors: Soni, Neetu | Phadke, Rajendra V. | Kumar, Sunil

Article Type: Research Article

Abstract: We present a 10-year-old boy with seizures, delayed language development and mild mental retardation. Magnetic resonance imaging of the brain showed features of congenital bilateral perisylvian cortical disorganization suggestive of polymicrogyria. Diffusion tensor imaging was, performed to evaluate the motor tract fibers and arcuate fasciculi, which showed the normal orientation of the motor fibers and absence of the arcuate fasciculus.

Keywords: Congenital bilateral perisylvian syndrome, MRI, diffusion tensor imaging

DOI: 10.3233/JPN-2012-0559

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 205-209, 2012

Authors: Ben-Pazi, Hilla | Kroyzer, Naama | Hashkes, Philip J.

Article Type: Research Article

Abstract: Sydenham's chorea (SC) is, thought to be an autoimmune neuropsychiatric disorder that may have a prolonged fluctuating course. In some children, associated psychiatric symptoms such as depression, anxiety and obsessive-compulsive symptoms are unresponsive to neuroleptic therapy and may cause significant disability. We describe two adolescents with no prior neuropsychiatric disorders who developed SC and psychiatric symptomatology that did not respond to conventional psychiatric drugs: a 13-year-old boy with hallucinations and a 14-year-old …girl with abulia. They received immunosuppressive therapy for 1 year. Hallucinations in the boy resolved following the yearlong regimen of corticosteroids and did not recur during the 5-year follow-up period. The abulia resolved after 14 weeks of prednisone treatment but recurred several months later; further treatment with prednisone and azathioprine resulted in complete resolution of the abulia over the next year. This report of immunosuppressive-responsive psychiatric symptoms in SC suggests an underlying autoimmune disorder causing behavioral changes and offers a therapeutic option in neuroleptic resistant cases. Show more

Keywords: Depression, anxiety, obsessive-compulsive, prednisone, azathioprine

DOI: 10.3233/JPN-2012-0561

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 211-214, 2012

Authors: Hersey, Naomi O. | Craven, Ian J. | Connolly, Daniel J. | Sharrard, Mark | Wilkinson, Iain D.

Article Type: Research Article

Abstract: We present two pediatric siblings with L-2-hydroxyglutaric aciduria. The older sibling was scanned at ages 4 years 2 months and 5 years 6 months. The younger sibling was scanned at age 4 years 4 months. The magnetic resonance spectroscopy for each child was compared to age-matched controls. In both of our cases, lower N-acetyl-aspartate (NAA)/choline and NAA/creatine ratios are attributed to low NAA signal, as seen in previous reports. However, in conflict to other reports, no …peak was demonstrated in the 2.50 ppm range. This may reflect the longer echo times (echo time=144 ms) used in our studies compared to those of earlier reports. This is important as it highlights the impact of echo time on magnetic resonance spectroscopy appearances in this condition and indicates that more spectral information is required. Show more

Keywords: L-2-hydroxyglutaric aciduria, magnetic resonance spectroscopy

DOI: 10.3233/JPN-2012-0563

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 215-219, 2012

Authors: Çalık, Mustafa | İşcan, Akın | Abuhandan, Mahmut | Geter, Süleyman | Ataş, Ali | Katı, Mahmut | Cece, Hasan

Article Type: Research Article

Abstract: Cerebral salt-wasting syndrome is a disorder characterized by severe hyponatremia, volume depletion, and elevated brain natriuretic peptide but normal antidiuretic hormone levels. In this manuscript, we report the case of a six-year-old patient with cerebral salt-wasting syndrome associated with subacute sclerosing panencephalitis. The patient showed dehydration, tachycardia, pyrexia, polyuria, severe hyponatremia, and a significant loss of urinary sodium. He was successfully treated with sodium and fluid replacement therapy.

Keywords: Cerebral salt-wasting syndrome, hyponatremia, SSPE

DOI: 10.3233/JPN-2012-0565

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 221-224, 2012

Authors: Benrhouma, Hanene | Sidhom, Youssef | Rouissi, Aida | Nagi, Sonia | Kraoua, Ichraf | Yacoubi, Jihene | Hammouda, Mohamed Ben | Gouider-Khouja, Neziha

Article Type: Research Article

Abstract: Cerebral malaria is characterized by various non-specific neurologic features with usually diffuse cerebral edema on magnetic resonance imaging. We report on an exceptional case of cerebral malaria with isolated parkinsonism and bilateral substantia nigra involvement. We discuss the pathophysiology leading to involvement of substantia nigra and treatment options.

Keywords: Cerebral malaria, parkinsonism, substantia nigra

DOI: 10.3233/JPN-2012-0568

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 225-227, 2012

Authors: Bhowmik, Arijit | Mondal, Biswajit | Pal, Radhabinod | Banerjee, Prabhabati

Article Type: Research Article

DOI: 10.3233/JPN-2012-0560

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 229-231, 2012

Authors: Singh, Deepak Kumar | Singh, Neha

Article Type: Research Article

DOI: 10.3233/JPN-2012-0569

Citation: Journal of Pediatric Neurology, vol. 10, no. 3, pp. 233-234, 2012