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.

Neurodevelopmental Outcome in Patients with Typical Imaging Features of Injury as a Result of Neonatal Hypoglycemia.

Introduction: Previous reports described a pattern of hypoglycemia-induced damage predominantly affecting the parieto-occipital regions. The long-term neurological sequelae of severe neonatal hypoglycemic encephalopathy include developmental delay, poor head growth, learning or behavioral difficulties, visual impairment, and epilepsy. This study reports neurodevelopmental outcome of children with neonatal hypoglycemia-associated parieto-occipital brain injury who were evaluated in our pediatric neurology outpatient clinic for different neurological complaints. Methods: We retrospectively reviewed patients who were followed at Kocaeli University Hospital, Pediatric Neurology Department between 2007 and 2015. Patients (n=42) with predominately parieto-occipital lesions on magnetic resonance imaging (MRI) with the typical pattern of neonatal hypoglycemia were evaluated. Patients with documented hypoglycemia (n=21) were included in this study. Patients (n=9) with recurrent episodes of hypoglycemia longer than 12 hours were evaluated as prolonged hypoglycemia. Results: Eleven patients (52.4%) experienced seizures in the neonatal period. Eighteen patients (85.7%) developed epilepsy during the follow-up. Refractory seizures were observed in 8 patients (38.1%). Nine patients (42.9%) manifested microcephaly, seven patients (33.3%) manifested cerebral palsy. Parieto-occipital involvement and the spasticity rate were statistically high in patients with prolonged hypoglycemia (p<0.01). Two patients had autistic features and four patients (19%) had attention deficit hyperactivity disorder. VEP studies could be performed in 18 of 21 patients. All patients had abnormal VEP results. Conclusion: We are of the opinion that most patients of neonatal hypoglycemia are not always documented. Patients under risk and patients with symptoms of hypoglycemia should be vigorously screened and treated to prevent neurologic impairments including cerebral palsy, epilepsy and visual disturbance.

The efficacy of nebulized salbutamol, hypertonic saline and salbutamol/hypertonic saline combination in moderate bronchiolitis.

BACKGROUND: The mainstay of treatment in bronchiolitis includes oxygenation, aspiration of secretions from the respiratory tract and maintenance of hydration. The first choice medical agent in clinical practice is nebulized bronchodilators, although their place in treatment is controversial. OBJECTIVES: We investigated the therapeutic benefit of nebulized hypertonic (3%) saline (HS), by comparing four different nebulized regimens in the treatment of bronchiolitis in the emergency department. METHODS: A total of 120 infants were included in this randomized, double-blind, prospective study. Infants were grouped according to the nebulized treatment they received: group 1 - salbutamol + normal saline (NS), group 2 - salbutamol + HS, group 3 - HS, group 4 - NS. Heart beat, Clinical Bronchiolitis Severity Score (CBSS) and oxygen saturation of the patients were determined before and after the nebulizations and at 48-72 h after admission by the designated study physician. RESULTS: Post-treatment mean CBSS were significantly lower than pre-treatment scores in all groups (p = 0.0001) with no significant difference within groups. Improvement percentages for CBSSs were significantly higher in infants without a history of atopy treated with HS and NS (p = 0.023, p = 0.0001, respectively). CONCLUSIONS: The CBSSs of all the infants improved after three doses of nebulized therapy regardless of the treatment regimens. The combination of salbutamol with hypertonic saline did not lead to an additive effect in the improvement of CBSSs compared to the standard salbutamol + NS combination. Atopic children benefited from salbutamol/NS combination whereas non-atopic children improved with HS and NS nebulizations based on improvement percentages of CBSS.

Acute ophthalmoparesis and persistent mydriasis: expanding the clinical spectrum of anti-GQ1b positive cranial neuropathy in a 5.5-year-old girl.

Sakarya Günes A, Maras Genç H, Uyur Yalçin E, Yilmaz V, Saruhan Direskeneli G, Kara B. Acute ophthalmoparesis and persistent mydriasis: expanding the clinical spectrum of anti-GQ1b positive cranial neuropathy in a 5.5-year-old girl. Turk J Pediatr 2019; 61: 794-797. Acute ophthalmoparesis without ataxia (AO) is an atypical form of Miller- Fisher syndrome (MFS) and is rare in children. Anti-GQ1b antibodies can be detected in patients with AO, as in MFS. A 5.5-year-old girl had total ophthalmoparesis, blurred vision, ptosis, diplopia and mydriasis non-reactive to light or near stimuli with preserved consciousness and deep tendon reflexes. She had no ataxia. Cerebrospinal fluid (CSF) examination and cranial MRI were normal. Serum antiGQ1b antibodies were positive. She was diagnosed with AO and intravenous Immunoglobulin (IVIG) was ordered, 400 mg/ kg/day, for 5 days. Ophthalmoparesis and blurred vision improved in a few weeks. At the end of the first year, mydriasis still persisted, but improved and became responsive to near stimuli. Pupillary involvement may be seen in approximately 50% of MFS patients, and improvement in a few weeks or months has been reported in adults. Our case shows the expanding clinical spectrum of anti-GQ1b positive cranial neuropathy as early-onset AO and prolonged mydriasis more than one year.

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.