Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.

INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety factor which required for neuromuscular transmission. Here we reported our experience in children with CMS. METHODS: We retrospectively collected the data of 18 patients with CMS who were examined in our outpatient clinic between January 2021 and January 2022. The diagnosis of CMS was based on the presence of clinical symptoms such as abnormal fatigability and weakness, absence of autoantibodies against acetylcholine receptor and muscle-specific kinase, electromyographic evidence of neuromuscular junction defect, molecular genetic confirmation, and response to treatment. RESULTS: The most common mutations were in the acetylcholine receptor (CHRNE) gene (8/18) and choline acetyltransferase (ChAT) (2/18) gene. Despite targeted gene sequencing and whole exome sequencing (WES) were underwent, we couldn't detect a genetic mutation in three out of patients. The most commonly determined initial finding was eyelid ptosis, followed by fatigable weakness, and respiratory insufficiency. Although the most commonly used drug was pyridostigmine, we have experienced that caution should be exercised as it may worsen some types of CMS. DISCUSSION: We reported in detail the phenotypic features of very rare gene mutations associated with CMS and our experience in the treatment of this disease. Although CMS are rare genetic disorder, the prognosis can be very promising with appropriate treatment in most CMS subtypes.

Early developmental support for preterm infants based on exploratory behaviors: A parallel randomized controlled study.

INTRODUCTION: Preterm infants are at high risk for developmental disabilities, and their parents are at increased risk for high stress. Early intervention programs are applied to reduce these adverse outcomes. The primary aim is to compare the efficacy of the novel Explorer Baby early intervention program for the holistic development of preterm infants. The second objective was to compare the stress levels of their mothers. METHODS: Randomized clinical trial with 38 weeks-6 months corrected age preterm infants at low risk for cerebral palsy, randomly assigned to experimental (Explorer Baby) or active control neurodevelopmental therapy (NDT) groups. Fifty-seven infants were enrolled in the study, and 51 (26 Explorer Baby, 25 NDT) completed it. Bayley III was used as a primary outcome before, during, and after the intervention. RESULTS: When we compared the changes between the groups before and after therapy, no significant differences were found in any of the primary or secondary outcomes (between-group comparisons). When comparing the changes in both groups before and after therapy (in-group comparison), the Explorer Baby group demonstrated significant improvements in cognitive (Hedges' g = .83) and explorative language skills (Hedges' g = .65), whereas the NDT group showed improved parent-child dysfunctional interaction (Hedges' g = 2.66) between T0-T1 and T0-T2. CONCLUSIONS: The Explorer Baby early intervention program may be a preferred option to support premature infants without brain injury, as it shows greater skill acquisition than NDT, although not statistically significant. Both methods are safe as they support premature babies without negatively affecting mothers' overall stress levels.

Global aphasia without hemiparesis may be caused by blunt head trauma: An adolescent boy with transient aphasia.

Global aphasia without hemiparesis is a rare condition often associated with embolic stroke. Posttraumatic causes have not been reported, in the literature, to our knowledge. We report a 15-year old boy with transient global aphasia without hemiparesis due to blunt head trauma. In our case, clinical findings occurred 1week later following head trauma. Emergence of the symptoms after a period of the first mechanical head trauma, draws attention to the importance of secondary process in traumatic brain injury.

Evaluation of cases with cerebral thrombosis in children.

AIM: We aimed to evaluate the patients who were followed up in our clinic with a diagnosis of cerebral sinovenous thrombosis in terms of age, sex, clinical findings, etiology, thrombophilic factors, imaging findings, treatment and prognosis. MATERIAL AND METHODS: The files of 11 patients who were followed up in our pediatric neurology clinic with a diagnosis of cerebral thrombosis between 1 December 2010 and 31 December 2014 were retrospectively analyzed. RESULTS: Seven of 11 patients were male (63.6%). The median age was 14 years (2-17 years). Six (54%) of the patients presented with a complaint of headache. Other complaints at presentation included diplopia (n:3), weakness and difficulty in speaking (n:1) and seizure (n:1). A diagnosis of pseudotumor cerebri was made in eight of the patients (72.7%). In the etiology, mastoiditis was found in three patients, mastoiditis and meningitis were found in combination in one patient, Behçet's disease was found in three patients and head trauma was found in one patient. In 3 patients, only prothrombotic genetic risk factors were present; one patient had deficiency of protein C and S, one patient had deficiency of antithrombin III and one patient had hyperhomosisteinemia in association with vitamin B12 deficiency. 1A homozygous MTFHR A1298C mutation was detected in the patient who had mastoiditis and meningitis and protein S deficiency and lupus anticoagulant were found in another patient who had mastoiditis. All patients received anticoagulant treatment and all patients recovered without neurological sequelae except one. CONCLUSIONS: Cerebral sinovenous thrombosis should be considered in patients who present with headache and focal neurological deficits. Appropriate utilization of imaging studies is necessary for the diagnosis. Detailed ear, nose and throat examination should be performed to detect mastoiditis. It is recommended that genetic risk factors should be investigated, because hereditary thrombophilis factors may have a role in children. Behçet's disease which is relatively common in our country should be considered in differential diagnosis.

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.

The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered.