The clinical value of amplitude-integrated electroencephalography in a historical cohort with neonatal encephalopathy: A comparison of short-term versus prolonged-period monitoring.

BACKGROUND: To compare the amplitude-integrated electroencephalography (aEEG) monitoring (short-term versus prolonged-period) for neonatal seizure detection and outcome. METHODS: The aEEG monitoring in a historical cohort (n = 88, preterm:42, and term:46) with neonatal encephalopathy between 2010-2022 was re-evaluated for neonatal seizures (electrographic, electro-clinical, and clinical seizures) and EEG background scoring. The cohort was dichotomized: group I (short-period with 6-12 h, n = 36) and group II (prolonged-period with 24-48 h, n = 52). Both monitoring types were evaluated for the diagnostic accuracy of the "patients with seizures" and for outcome characteristics (early death as well as adverse outcomes at 12 months of age). RESULTS: A total of 67 (76 %) neonates of the cohort were diagnosed as "patients with seizures": electrographic-only seizures in 10 (15 %), electro-clinical seizures in 22 (33 %), and clinical-only seizures in 35 (52 %). The aEEG provides the "patients with seizures" in neonates with a 36.5 % rate with both types of monitoring: 17/36 (47.2 %) with short-term and 15/52 (28.8 %) with prolonged-period monitoring. The prolonged period aEEG had higher diagnostic values for seizure detection (sensitivity = 0.73 and negative predictivity value = 0.81). However, the aEEG background scores were similar for both types of aEEG monitoring, respectively (the mean ± SD: 4.73 ± 2.9 versus 4.4 ± 4. p = 0.837). The aEEG scoring was correlated with the magnitude of brain injury documented with MRI, the early death, and the adverse outcome at 12 months of age. CONCLUSIONS: Both aEEG types are valuable for monitoring the "patients with seizures" and outcome characteristics.

Comparison of the effects of abdominal massage and osteopathic manipulative treatment home program on constipation in children with cerebral palsy.

Background and Aim: The aim of this study is to compare the effects of osteopathic manipulative therapy home program (OMT-H) versus abdominal massage home program (AMHP) in treating constipation in children with cerebral palsy (CP). Methods: Twenty-nine children with CP with a mean age of 12.2 ± 3.76 years, who were constipated and were not on medication, were divided into three randomized groups: (i) control group (n = 10), (ii) AMHP (n = 10), and (iii) OMT-H (n = 9). In AMHP and OMT-H groups, treatment was applied as 20-min sessions every other day for 10 sessions for 3 weeks. Modified Constipation Assessment Scale (MCAS), Rome III criteria, and the Bristol Stool Form Scale (BSFS) were used for evaluation before treatment and once a week during treatment. Results: While there was no change in constipation symptoms in the control group, there was an improvement in constipation symptoms after treatment in the AMHP and OMT-H groups (AMHP, P = 0.003; OMT-H, P = 0.000014). While the treatment showed to be effective from the first week in the OMT-H group, the change in BSFS (P = 0.026) and MCAS sub-parameters was found to be superior. Conclusion: AMHP and OMT-H are effective and beneficial in treating constipation. In children with CP, OMT-H was found to be quicker and more successful compared with AMHP. The OMT-H can be effectively used in clinical practice in relieving constipation in CP.

Occipital emissary vein existence and its impact on the diagnosis of idiopathic intracranial hypertension in pediatric patients.

PURPOSE: This study aimed to investigate the efficacy of occipital emissary vein (OEV) detection in the diagnosis of idiopathic intracranial hypertension (IHH) in the pediatric age group, and to compare the prevalence and luminal diameter of OEV in patients with IHH and in healthy control subjects. METHODS: Conventional magnetic resonance imaging findings were assessed in the patients with IHH and in healthy control subjects who were under the age of 18, by two observers. The presence and luminal dimension of OEV and transverse sinus stenosis were also evaluated and compared between these two groups with magnetic resonance venography techniques. RESULTS: The rate of OEV existence was 7 times higher in the IIH group compared to the control group based on the second observer outcome (p = 0.010, OR = 7.0), with a very good interobserver agreement (Ƙ = 0.85). The dimension of OEV ranged between 0.6 and 2.5 mm. There was no correlation found between the opening pressure and the dimension of OEV (p = 0.834). CONCLUSION: In conclusion, OEV existence could be an additional radiological finding for diagnosing IHH among pediatric patients, alongside other conventional findings.

An Overlooked Manifestation of Hypercortisolism: Cerebral Cortical Atrophy and Challenges in Identifying the Etiology of Hypercortisolism - A Report of 2 Pediatric Cases.

INTRODUCTION: Endogenous Cushing's syndrome (CS) is a rare, severe disease that can cause multiple systemic involvements and behavioral problems due to excessive cortisol production. Structural changes can be noted in the brain magnetic resonance imaging (MRI) scans of these cases. CASES: A 9-year-old girl and a 13-year-old boy were admitted with hypercortisolism. In the female patient, altered consciousness was prominent along with cerebral and cerebellar brain atrophy, and findings indicating posterior reversible encephalopathy syndrome were detected in the brain MRI. Although the male patient's neurological examination was normal, significant cerebral atrophy was seen in the brain MRI. Case 1 was diagnosed as having ectopic ACTH syndrome (EAS) due to a thymic carcinoid tumor. Case 2 underwent a pulmonary lobectomy upon detection of a bronchial lesion in the Ga-68 DOTATATE PET/CT scan while being examined for EAS due to a lack of suppression in the high-dose dexamethasone suppression test. However, hypercortisolism persisted despite the removal of the bronchial lesion, and subsequently, a diagnosis of Cushing's disease was established following bilateral inferior petrosal sinus sampling. DISCUSSION: Endogenous hypercortisolism may cause brain atrophy of varying severity. The central nervous system findings can be overlooked in children with CS. More comprehensive studies are needed to better understand the behavioral changes caused by the effects on the brain and to evaluate whether these changes are reversible. In addition, identifying the source of hypercortisolism can be difficult due to a lack of experience related to the rarity of the disease in children.

Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report.

INTRODUCTION: Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy. Cardiac pathology co-existence is reported more frequently in the severely affected patient groups. Structural heart anomalies, mainly septal, and outflow tract defects are commonly observed pathologies. CASE PRESENTATION: We herein report the case of a 23 days-old female patient with the diagnosis of spinal muscular atrophy type 2 complicated with structural heart defects. Successful pulmonary banding, and at the age of 17 months, subsequent surgical atrial and ventricular septal defect closure were performed on our patient who was under treatment of Nusinersen Sodium. Post-operative recovery was uncomplicated. Cardiac assessments were normal, and the patient was neurologically improving in her recent follow-up. CONCLUSION: In the literature, there are no reported cases of successful surgical repair of heart defects in spinal muscular atrophy patients. These patients can be perceived as risky surgical candidates with suboptimal postoperative recovery given the unfavorable disease prognosis of SMA in untreated patients. We report our promising experience with a SMA type 2 patient undergoing a disease-modifying medical treatment. The SMA patients under treatment may be potential candidates for successful surgical cardiac correction given their overall improved prognosis.

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

OBJECTIVE: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. METHODS: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. RESULTS: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. CONCLUSION: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients.

Evaluation of ten prognostic factors affecting the outcome of West syndrome.

The aim of this study is to assess the seizure and developmental outcome and to determine the prognostic factors affecting the outcome of West syndrome in an etiologically well-defined large cohort. Demographic features, treatment modalities, etiology, seizure and developmental outcome of 216 cases with West syndrome were recorded retrospectively. Ten prognostic factors possibly affecting the outcome of West syndrome including (1) gender, (2) age at the onset (3) presence of seizures prior to spasms, (4) presence of asymmetric spasm, (5) presence of abnormal neurological signs, (6) treatment lag, (7) etiology, (8) drug chosen as the initial treatment, (9) response to initial treatment regardless of the kind, (10) development of other seizure types after spasms were evaluated in terms of seizure and developmental outcome. Twelve percent of the cases were developmentally normal at the end of 2-year follow-up. Ongoing seizures requiring antiepileptic drug medication at the last follow-up were noted in 90 % of the cases. Hypoxia (29 %), metabolic disorders (11 %), infectious diseases (9 %) and cerebral developmental disorders (8 %) were the most frequent etiological factors. Five of the ten prognostic factors (presence of seizures prior to spasms, presence of abnormal neurological signs, response to initial treatment regardless of the kind, etiology and development of other seizure types after spasms) were found to be statistically significant prognostic factors predicting the outcome. In conclusion, West syndrome is still a catastrophic epileptic encephalopathy. Preventable causes still constitute a substantial portion of the etiological causes of West syndrome. Therefore, the prevention of avoidable causes is at least as important as the treatment.

Clinical characteristics and outcome of children with electrical status epilepticus during slow wave sleep.

BACKGROUND: Electrical status epilepticus in slow wave sleep (ESES) is a rare, age-related, self-limited disorder characterized as epilepsy with different seizure types, neuropsychological impairment in the form of global or selective regression of cognitive functions, motor impairment, and typical electroencephalographic (EEG) findings of continuous epileptic activity occupying 85% of nonrapid eye movement sleep. AIMS: The aim is to examine the clinical and electrophysiological findings and treatment modalities of children with ESES and to evaluate the outcome of the disorder. MATERIALS AND METHODS: Fourteen patients with a diagnosis of electrical status epilepticus during slow wave sleep and followed-up at least 2 years were included. STATISTICAL ANALYSIS: Pearson correlation test was used in the study. RESULTS: Among the 14 patients, eight of them had normal mental development before ESES. Twelve of the patients mentioned cognitive impairment and decline in school performance during ESES. After ESES, seven patients had mental retardation in different severity. One of these patients was diagnosed with benign partial epilepsy of childhood with centrotemporal spikes and had normal intelligence quotient level prior to ESES. The diagnosis of ESES was made after newly occurred different seizure types in four of the patients while two of the previously known epileptic patients presented with only severe psychiatric impairment. Valproic acid and carbamazepine were the mostly frequently used drugs before the onset of ESES. After at least 2 years of follow-up, seven patients were seizure free, but still taking antiepileptic treatment. Five patients were seizure free, while two of them had ongoing seizures despite antiepileptic therapy. CONCLUSION: ESES should be kept in mind in children with unexplained regression or stagnation of development associated with seizures or not. Sleep EEGs should be performed for timely diagnosis, proper treatment and prevention of permanent cognitive impairment.

Early-onset acquired myasthenia gravis secondary to anti-muscle-specific kinase autoantibodies.

Autoimmune myasthenia gravis is rarely seen during infancy. Similar to adults, 85% to 90% of generalized pediatric myasthenia gravis cases have acetylcholine receptor antibodies. Approximately 30% of the remaining cases have antibodies against muscle-specific kinase. Information on the clinical course, treatment alternatives, and prognosis of pediatric muscle-specific kinase antibody-positive myasthenia gravis is limited because of the small number of cases. Here, we present a 14-month-old girl with muscle-specific kinase antibody-positive myasthenia gravis as one of the youngest patients described so far in the literature.

A regional panorama of dysferlinopathies.

OBJECTIVE: We describe the characteristic features of 11 patients (6 men and 5 women) with dysferlinopathies confirmed by muscle biopsies. In addition, we aimed to provide a realistic comprehensive picture of the severe muscle diseases in the Aegean Region of Turkey. MATERIAL AND METHOD: We retrospectively reviewed 90 patients who underwent muscle biopsy examinations between 2008 and 2011 in the pathology laboratory of Izmir Dr.Behcet Uz Children's Hospital. Biopsy specimens of all patients clinically diagnosed as muscular dystrophy referred from 4 different centers of neurological disorders were collected. RESULTS: Dystrophinopathy was the most (n=45) and gammasarcoglycanopathy was the second common (n=13) muscular dystrophy in this series. The mean age of all 90 patients was 8.8 years (3 months- 64 years). Only 14 cases (15.5%) were older than 14, and 23 cases were younger than two years. Dysferlinopathy was the most common dystrophy in the older age group. There were statistical significant differences between the types of dystrophy and inflammation (0.021), creatine kinase levels (p= 0.001), age (p=0.001), and gender (p < 0.001) of the patients. CONCLUSION: The present study revealed that dysferlinopathies is not an uncommon form of muscular dystrophies in western Turkey. We have concluded that if avoidance from unnecessary therapeutic interventions is desired, we must be aware of the relative frequencies of dysferlinopathies.

Recurrent pseudotumor cerebri in childhood: a case of neuro-Behçet disease complicated with thrombotic risk factors.

Pseudotumor cerebri with or without venous sinus thrombosis is a rare clinical presentation of Behçet disease in childhood. We present here a case of childhood pseudotumor cerebri without a previous diagnosis of Behçet disease. The detailed history and physical examination of the case led to the diagnosis of neuro-Behçet disease. The investigation of predisposition to thrombosis revealed heterozygous factor V Leiden mutation along with the high lipoprotein(a) level. The symptoms resolved dramatically by treatment with the combination of immunosuppression and anticoagulation with regard to the detected factor V Leiden mutation and high lipoprotein(a) level. After a symptom-free period of 9 months, the cerebral vein thrombosis recurred. We present this case to draw attention to this rare cause of pseudotumor cerebri in childhood and to emphasize the importance of additional thrombotic risk factors regarding the potential recurrence of thrombotic events in Behçet disease.