The improvement in diagnosis and epilepsy managing in children with progressive myoclonus epilepsy during the last decade - A tertiary center experience in cohort of 51 patients.

The aim of the study was to explore whether diagnosis and managing children with progressive myoclonus epilepsy (PME) were improved during the last decade. METHODS: The retrospective study included children with PME treated in the Institute during the last 25 years. Investigation time was divided in two periods (groups): before December 2010 (the first group) and after this period up to December 2019 (the second group). Inclusion criteria are as follows: patients aged from 0.2-18 years and with PME. Evaluated parameters are etiology, age at seizure onset, diagnosis delay, epilepsy phenotype, and, as a measure of epilepsy control - status epilepticus (SE) frequency and recurrence rate. Statistical analysis included the following tests: Chi-Square, Mann-Whitney, and analysis of variance (ANOVA), using SPSS version 25. RESULTS: The study included 51 patients, 27 in the first, and 24 in the second group. The underlying diseases were: neuronal ceroid lipofuscinosis (NCL; 30), Gaucher (5), Niemann-Pick (4), mitochondrial (4), Lafora (3), Krabbe (2), and KCNC1 gene mutation (2). The average duration from initial symptoms to diagnosis was 3.2 ±â€¯3 years (first group) vs. 1.4 ±â€¯0.9 years (second). Both SE frequency rate (55.5% vs. 37.5%) and recurrence rate (66.7% vs. 22.2%) were higher in the first group, showing tendency towards, but not statistically significant difference. CONCLUSION: The diagnosis and epilepsy managing children with PME were improved during the last decade. Earlier genetic diagnosis, appropriate antiseizure medications, education of parents/caregivers of children in high risk for SE, and availability of effective prehospital rescue medications contributed to significantly decreased frequency and recurrence rate of SE.

New-onset seizure presenting as status epilepticus: Etiology and clinical characteristics in a cohort of 236 children.

PURPOSE: Evaluation of the etiology, clinical characteristics and outcome of the first status epilepticus (fSE) event in children. METHOD: The patients with fSE hospitalized in our Institute from 1995 to 2011 were included. The etiology was characterized as either known (symptomatic) or unknown (cryptogenic). Outcome was assessed at the end of hospitalization. Logistic regression analyses were used to assess predictors of the outcome, with odds ratio adjusted by age as a measure effect. RESULTS: The study included 236 patients with a median age of 2.0 years (IQR 4.0). Etiology was identified as secondary to: defined electroclinical syndromes 108 (45.8), acute symptomatic conditions 63 (26.7%), unknown 24 (10.1%), progressive encephalopathy 23 (9.7%), or remote symptomatic 18 (7.6%). Recurrence rate was 16.9%, neurological consequences were in 24.6% and case-fatality ratio was 4.7%. The main predictors were for: a) death - progressive encephalopathy (OR = 14.68, 95% CI 4.06-23.11. p = 0.001); b) neurological sequelae - acute symtomatic (OR 3.44, 95% CI 4.82-6.47) p = 0.001, remote symptomatic (OR = 13.84, 95% CI 4.34-44.12. p = 0.001), progressive encephalopathy (OR = 3.94, 95% CI 1.64-9.56. p = 0.002), seizure duration >60 min (OR = 0.44, 95% CI 0.24-0.81. p = 0.001); c) seziure recurrence - acute symptomatic etiology (OR = 3.59, 95% CI 41.76-7.21. p = 0.001), seizure duration >60 min (OR = 0.30, 95% CI 0.15-0.61. p = 0.001). CONCLUSIONS: In children with fSE, exploring acute disorders and immediate etiological treatment is essential. The outcome of fSE is favorable concerning the recurrence rate, while neurological sequelae are seen in one quarter of the patients. The etiology and fSE duration are the main determinants of outcome.

Cervical chondrocutaneous branchial remnants--report of 17 cases.

BACKGROUND/PURPOSE: Cervical chondrocutaneous branchial remnants are congenital, benign and rare neck masses. These anomalies are limited in the literature, reported mostly as case reports. Cervical chondrocutaneous branchial remnant is always present at birth, and the lesion is usually unilateral. Understanding and treatment of cervical chondrocutaneous branchial remnants requires knowledge of the related embryology. METHODS: From January 2005 to December 2008, 17 patients with mean age of 32 months (range from 2 months to 15 years) with CCBRs were treated at the Division of Pediatric Surgery, Department of Plastic and Reconstructive Surgery and Burns at the Institute for Mother and Child Health Care, Belgrade, Serbia. The following objections were recorded: sex, lesion side, surgical data, associated malformations and pathohistology findings. RESULTS: There were 7 females and 10 males, 4 with bilateral presences. Five children had associated anomalies, as follows: vesicoureteral reflux, atrial and ventricular septal defect, ventricular septal defect, branchiootorenal syndrome and preauricular sinus. There was a positive family history in one patient. Fifteen patients (88%) were treated with complete surgical excision and no connections with deep underlying structures of the neck were found. There were no complications at surgery. No recurrence was found during follow-up. Histopathology analysis revealed both, hyaline and elastic cartilage. CONCLUSION: Cervical chondrocutaneous branchial remnants are rare anomalies arising from branchial arch, probably originally from remnants of first or second arch. Surgical excision is the treatment of choice. From our experience, we suggest surgical treatment early in childhood because of esthetic reason, simplicity of the intervention and low complication rate. Also, the abdominal ultrasound and cardiac examination is recommended because of associated anomalies.

Circular excision and purse-string suture technique in the management of facial hemangiomas.

Hemangiomas are the most common soft tissue tumors in infancy. Treatment options for hemangiomas are numerous. The scar after lenticular excision and linear closure is often unacceptable. Localized cutaneous infantile hemangioma acts like a tissue expander. Therefore, circular excision and purse-string suture technique are applicable for hemangioma at any stage. For 2-year period we have operated 14 patients with hemangioma using circular excision and purse-string suture technique. In eight patients hemangioma was localized in the head and neck region. Two infants with large hemangioma of the face are presented in this article. One patient had hemangioma with ulceration resistant to conservative treatment. Second patient had giant hemangioma, which caused partial disturbation of visual axis. We applied circular excision and purse-string suture technique in both patients. The results were good, without any postoperative complications.