Klippel-Trenaunay-Weber syndrome with hemimegalencephaly; report of a pediatric case

Klippel-Trenaunay-Weber Syndrome [KTWS] is a rare neurocutaneous syndrome. Hemimegalencephaly [HME] and seizure episodes have been reported previously in a few cases with KTWS. We report here a 3 day-old girl with partial motor seizures, extensive port-wine staining and mild structural deformities in the feet, and a hemimegalencephaly. Occurrence of partial motor seizures in addition to bilateral lower extremities extensive port-wine staining is a unique feature seen in our case

[Diagnostic role of ESR, CRP, leukocytosis and Neutrophil/ Lymphocyte in peripheral blood smear in children under 14 with acute appendicitis]

Clinical assessment outweighs the use of paraclinical investigations in the diagnosis of acute appendicitis. Few studies have addressed the predictive value of white blood cells [WBCs] and C-reactive protein [CRP] at different cut-off values in appendicitis. Our purpose was to determine the predictive value of WBC count, CRP, ESR and neutrophil to lymphocyte ratio in pediatric appendicitis. WBC count, CRP, ESR and neutrophil to lymphocyte ratio were measured prospectively in 307 patients presenting with lower abdominal pain who underwent surgical exploration; the results were correlated with each patient's outcome. Gold standard for diagnosing appendicitis was based on histopathologic evaluation. Patients [189 boys, 118 girls] were 1-14 years old [mean 7.9 +/- 2.9 years]. Overall WBC count had the highest sensitivity in the prediction of diagnosis of appendicitis [86.8%], whereas sensitivity of CRP was 76%. ESR and neutrophil to lymphocyte ratio revealed a modest sensitivity. Combining the diagnostic tests increased the sensitivity significantly. Sensitivity increased to 96.1% when CRP and WBC count were used together while it was 99.1% when the combination of all diagnostic tests were used. This result may have important clinical and economic implications. We suggest that patients experiencing lower abdominal pain, with normal WBC count and CRP values, are unlikely to have acute appendicitis and can be safely observed for a longer time

Can we rely on frozen sections of a rectal biopsy for one-stage trans-anal pull-through operation in Hirschsprung's disease?

Successful results after one-stage trans-anal pull-through [OSTAPT] operation for Hirschsprung's disease [HD] depend on accurate identification of the aganglionic segment in intra-operative frozen section [FS]. Misinterpretation of the findings of the rectal biopsy is an anxiety-evoking pitfall for the surgeon. This study aims to describe our experiences in comparing results of FS and permanent Section [PS] rectal biopsies in children with HD who were candidates for OSTAPT in a single-step operation. Subjects under the age of 14 years, admitted from March 2000 to July 2008 in a university-affiliated children's hospital for open rectal biopsy to diagnose HD were included in the study. All biopsies were taken 2-3 cm above the dentate line. 210 specimens of full-thickness rectal biopsy were obtained for both frozen section and permanent biopsy from all patients, examined by two well experienced pediatric pathologists for ascertaining the presence of ganglion cells, and the results were compared. Analysis was performed by SPSS Software version 11.5. Two-hundred one infants and children underwent FS rectal biopsy to exclude HD. Positive results were seen in 63.8% of the specimens examined as PS and in 58.3% of FS samples. 93.9% of positive results in FS studies were confirmed by PS studies. 6.1% of FS reports were false positive and 21.7% were false negative [P<0.001]. The sensitivity of FS was 85.8% and specificity 90.2%. Positive predictive value [PPV] was 93.9% and negative predictive value [NPV] was 78.3% in FS studies [P<0.001]. The accuracy of FS was 80.4%. Although FS of the rectal biopsy is useful in defining the aganglionic segment during operation, according to this study, it cannot be used as the sole base for performing primary pull-through operation before the results of the permanent section are on hand

Factors related to abnormal neuroimaging in children with first unprovoked seizure

The first attack of unprovoked seizure is most frequent than recurrent one and neuroimaging is one of the main parts of the evaluation of these attacks in order to demonstrate the cause and predict the prognosis. The aim of this study was to determine the incidence of abnormal neuroimaging and related factors in children with the first unprovoked seizures. A 7-year retrospective chart review was done on all children who were visited at Ali-Asghar Children's Hospital with the first unprovoked seizure and underwent neuroimaging including brain computed tomography or magnetic resonance imagin. The diagnostic criteria brain computed tomography or magnetic resonance imaging. The diagnostic criteria the first unprovoked seizure in this study were based on the absence of any immediate or acute cause for the first seizure such as fever, head trauma, hypoglycemia, hypocalcemia, electrolyte imbalance and etc. We compared the rate of abnormal neuroimaging in patients according to different clinical and electroencephalographic [EEG] parameters. One hundred and forty two patients [63 females, 79 males] were included in the study. Twenty eight patients [20%] had abnormal neuroimaging. CT scan and MRI were done 63% and 37% of the patients, respectively. The most common abnormalities were cerebral dysgenesis [n=9] and cortical brain atrophy [n=6]. Patients who were abnormal on neurologic examination had a higher rate of abnormal imaging in comparison with neurologically normal children [51% vs. 10%]. Abnormal imaging was more frequent in children with an epileptiform activity in EEG compared to normal EEG [34% vs. 11%]. Although not statistically significant, partial type of seizure, seizure recurrence within 24-hr and age 3-12 year were also associated with a higher rate of abnormal neuroimaging. Neuroimaging should be considered in any child with the first episode of unprovoked seizure, especially those with an abnormal neurologic examination or abnormal EEG

efficacy and safety of oxcarbazepine as add-on therapy in intractable epilepsy in children

1-3% of the population suffer from epilepsy. Up to 30% of them develop refractory epilepsy and their seizures occur more than once per month despite receiving at least 2 first line antiepileptic drugs. In this group, more efficacious antiepileptics are needed. This study was undertaken to evaluate the efficacy and safety of Oxcarbazepine as an adjunction therapy in children with refractory epilepsy. From Feb 2004 until Sep 2006, 30 patients with refractory epilepsy aged between 4 and 14 years were evaluated in a before and after type study. The patients had seizure ranging from once monthly to more than 10 times daily and none of them had used Oxcarbazepine previously. They received Oxcarbazepine 30 to 50 mg/kg/day orally in combination with their current antiepileptic drugs and were regularly assessed for seizure frequency and side effects for 10 months. With Oxcarbazepine adjunction therapy, 10% of the patients became seizure-free, 36.6% experienced more than 50% reduction in seizure frequency, and 13.3% had increasing seizures. The drug was especially effective in the patients with partial seizures [77.7%]. Brief and transient adverse effects were seen in 36.6% of the patients which disappeared with treatment continuation. Wilcoxon signed ranks test showed that oxcarbazepine was effective in the treatment of refractory seizures [P=0.003] and as shown by Fisher's exact test, it was more effective in partial seizures [P=0.0043]. The results showed that Oxcarbazepine was a useful medication in the treatment of refractory epilepsy, especially the partial type, in children

[Clinical survey of cerebrovascular disease in children]

Stroke is defined as the sudden occlusion or rupture of cerebral arteries or veins resulting in focal cerebral damage and clinical neurologic deficits. The risk factors for stroke in children are numerous and differ from those in adults. Identification of these factors can prevent subsequent strokes. The aim of this study is to determine the etiology of stroke in children. In this descriptive prospective study, children who were referred to pediatric neurology clinic in Mofid Children's Hospital due to acute hemiparesis during 2 years period [Sep 2003-Sep 2005] were evaluated and their diagnosis was cerebrovascular disorders, in the view of physical examination and brain imaging. The study group consisted of 40 children in age groups between 3 months to 14 years old. The most common age group at presentation was 2 to 5 years old. Occurrence was predominant during autumn and winter [70%]. The most common clinical presentations were acute hemiparesis [85%] and seizures [40%]. The other symptoms were as follow: 15% decreased level of consciousness, 12.5% fever, 7.5% VI nerve palsy, and 2.5% cerebellar signs. 20% of patients suffered from hemorrhagic and 80% had ischemic stroke. In 60% of the patients specific etiologic factors were identified and in the rest of the group, risk factors could be delineated. The most common etiologies were: 17.5% cardiac diseases or procedures and 10% hematologic disorders. Other etiologies included: 7.5% prothrombotic states, 7.5% CNS infection, 5% mitochondriopathy, 2.5% for each of the head trauma, migraine, serum lipid abnormality, hypertension and arteriovenus malformation. The most common risk factors consisted of 40% anemia and 20% infections. This study demonstrates that stroke in children is a multifactorial process. Identification of the underlying risk factors for cerebrovascular disorders is highly desirable because many of the risk factors can be prevented, resulting in reduction of the risk of subsequent f strokes