Nesrin Senbil

Effects of Intranasal Midazolam and Rectal Diazepam on Acute Convulsions in Children: Prospective Randomized Study

In this study, the effects and side effects of rectal diazepam and intranasal midazolam were compared in the treatment of acute convulsions in children to develop a practical and safe treatment protocol. In the diazepam group, the seizures of 13 (60%) patients terminated in 10 minutes; however, 9 (40%) patients did not respond. In the midazolam group, 20 (87%) patients responded in 10 minutes, but 3 (13%) patients did not respond. Regarding the anticonvulsant effect, midazolam was found to be more effective than diazepam, and the difference was statistically significant (P < .05). The necessity of a second drug for the seizures that did not stop with the first drug was higher in the diazepam group than the midazolam group, and the difference was statistically significant (P < .05). We conclude that as an antiepileptic agent, intranasal midazolam is more effective than rectal diazepam. After administration, we did not observe any serious complications. Further investigations are necessary; however, intranasal administration is easy, so if the nasal drop and spray forms used in some European countries and the United States are available worldwide, it will be very useful for physicians in the emergency room. (J Child Neurol 2002;17:123-126).

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter disorders with a variable clinical phenotype (including vanishing white matter disease and ovarioleukodystrophy) and an equally heterogeneous genotype. We report 9 novel mutations in the EIF2B genes in our subject population, increasing the number of known mutations to more than 120. Using homology modeling, we have analyzed the impact of novel mutations on the 5 subunits of the eIF2B protein. Although recurrent mutations have been found at CpG dinucleotides in the EIF2B genes, the high incidence of private or low frequency mutations increases the challenge of providing rapid genetic confirmation of this disorder, and limits the application of EIF2B screening in cases of undiagnosed leukodystrophy.

Benign neonatal sleep myoclonus mimicking status epilepticus

Benign neonatal sleep myoclonus is a self-limited movement disorder characterized by neonatal-onset myoclonic jerks only during sleep, abrupt and consistent cessation with arousal, and absence of concomitant electrographic changes suggestive of seizures. It has a good outcome and was included in the differential diagnosis of neonatal seizures. A presumed transient serotonin imbalance and genetic factors may play a role in the pathogenesis of this disorder. We report a case of benign neonatal sleep myoclonus mimicking status epilepticus in an infant with a family history of nocturnal myoclonus, tic disorder, and sleep disturbance. We suggest that this benign entity should be included in the differential diagnosis of status epilepticus during the newborn period. (J Child Neurol 2004;19:62—63).

Devic's neuromyelitis optica in an infant case.

Devics neuromyelitis optica was orginally described as an acute severe monophasic syndrome characterised by myelitis and optic neuritis. The mean age at onset was reported to be around 40 years, with a wide range. However, Devics neuromyelitis optica has also been seen in children. Prognosis of the syndrome was poor, and no satisfactory treatment was known. This article reports a 23-month-old boy with acute myelitis and optic neuritis who was diagnosed with Devics neuromyelitis optica. The response of the patient to therapy was poor, and he developed severe sequelae.

Tau proteins in the cerebrospinal fluid of patients with subacute sclerosing panencephalitis

Neurodegenerative diseases characterized by cytoskeletal deformation and neurofibrillary tangles are associated with altered levels of tau and related proteins in cerebrospinal fluid (CSF). Neuronal or glial fibrillary tangles have been shown in 20% of subacute sclerosing panencephalitis (SSPE) patients. We therefore investigated CSF samples from 60 newly diagnosed SSPE and 31 neurological control patients for total tau (t-tau), phosphorylated tau (p-tau), and S100-B levels by ELISA. There was no difference between patient and control groups in t-tau and S100-B levels. p-Tau was lower in the SSPE group (p=0.009). Past history of measles infection, measles immunization status, latent period between measles and onset of SSPE, duration of symptoms, frequency of myoclonia, neurological deficit index, stage and progression rate of the disease, CSF glucose levels and cell counts, CSF and serum measles IgG titer, distribution of lesions on brain magnetic resonance imaging were not related to t-tau, p-tau and S100-B levels. Mental status and age were negatively correlated with t-tau, and male gender and EEG abnormalities were associated with higher t-tau levels. The levels of tau proteins in our patients suggest there is no, or only scarce and immature, neurofibrillary tangle formation in SSPE. Autopsy studies showing neurofibrillary tangles might have examined older patients with longer disease and more parenchymal involvement.

Ocular Findings in Subacute Sclerosing Panencephalitis

Purpose: The aim of this study was to evaluate the ocular manifestations of subacute sclerosing panencephalitis (SSPE) and to investigate possible risk factors in a relatively large series of patients. Methods: In this prospective study, patients who were diagnosed with SSPE and had undergone ophthalmic examination were included. Results: Of the 59 patients with SSPE, 25 (42.4%) had ocular findings. Ocular involvement was bilateral in 22 (88%) patients. The most characteristic fundus findings in our patients were chorioretinitis. No significant difference was found between the two groups in terms of age, gender, clinical stage, and ocular findings. Conclusions: Although ophthalmological findings do not constitute a part of the diagnostic criteria, and the correlation between the clinical stage of SSPE and the ocular findings is unclear, patients with SSPE should be screened and followed up for ocular involvement.

Paroxysmal tonic upgaze presenting as a clinical isolated syndrome.

We report a 3.5-year-old boy with sudden onset of episodic upward deviation of the eyes that led to diagnosis of paroxysmal tonic upgaze. Cranial magnetic resonance imaging showed right-hand side dominant bilateral hyperintense lesions in the mesencephalon and the thalamus on T2-weighted images. These lesions suggested a demyelinating pathology. Corticosteroid treatment was started. The episodes of upward eye deviation and the lesions on magnetic resonance imaging completely resolved after 3 days and 3 months, respectively. After 2 years of follow-up, he was symptom-free. Our patient with an isolated brain stem syndrome and no mental status changes was diagnosed as having a clinical isolated syndrome.

Cavanagh's Syndrome (Congenital Thenar Hypoplasia):

Thenar hypoplasia can be an isolated defect, as in Cavanaghs syndrome, can be present with cardiac (Holt-Oram syndrome) or eye (Okihiros syndrome) disorders, or can be associated with hand anomaly, as in Haass malformation. Vascular abnormality may be associated with thenar hypoplasia, which has been demonstrated in Okihiros syndrome. Cavanaghs syndrome is a rare anomaly of the upper extremities that presents with unilateral or bilateral hypoplasia of the thenar eminence. Typical clinical, radiographic, and electrophysiologic findings emphasize the diagnosis. Differentiation from carpal tunnel syndrome is important to prevent unnecessary intervention. Electrophysiologic and radiographic findings are necessary tools for the physician to establish a correct diagnosis and make an appropriate referral. Because of its rarity, we present the case of an 8-year-old girl with this syndrome. (J Child Neurol 2002;17:51-54).

Subacute sclerosing panencephalitis: Is there something different in the younger children?

Subacute sclerosing panencephalitis is a rare, slow viral infection caused by a defective measles virus. Although it is a rare disease, it is still important in developing countries. The onset is generally between the ages of 5-15 years. We reported the clinical and laboratory profile and nature of 9 patients under the age of 4 years with SSPE. Although it is known that a few patients with SSPE have an acute and rapidly fulminating course, in this study rate of progression was rapidly progressive in 6 patients and progressive in 3 of them on admission. Unfortunately, 4 of them were lost to follow up because of address and/or telephone number alterations. Although the number of patients in this study is not sufficient, we suggest that SSPE patients under the age of 4 years have a poor prognosis as a result of progressive or rapidly progressive course despite medical treatment.

Attitudes of Parents and Physicians Toward Febrile Seizures

Objectives Although febrile seizures are common in children, attitudes may change among parents. The management of a child may differ depending on the specialty of the attending physician. This study was carried out to analyze attitudes of Turkish parents and physicians toward febrile seizures. Material and Methods 308 children with febrile seizure who were admitted to the Department of Pediatric Neurology at Dr Sami Ulus Childrens Hospital and Gazi University in Turkey between January 2006 and March 2007 were enrolled. Results Prior to seizure, approximately half of the parents took appropriate steps in reducing fever. The data also showed that there was a wide variation of treatment practice depending on the specialty of the attending physician. Discussion Educational level and economic status are important variables affecting attitudes of parents toward fever and febrile seizure. The management of the child with a febrile seizure differs even within the same specialty in Turkish physicians.