Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey.

Evaluation of risk factors for recurrence of cutaneous adverse reactions due to anti-seizure medications in children: A retrospective study.

Cutaneous adverse reactions (CARs) are one of the most important reasons for anti-seizure medication (ASM) discontinuation in epilepsy. However, such discontinuations can cause an increase in seizures. This study investigates the risk factors for ASM-related rash recurrence in children.

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Introduction: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of an NGS gene panel containing LGMD-related genes and our experience with LGMD.

Methods: Between February 2019 and October 2022, patients with a suspicion of LGMD and their relatives were reviewed in terms of demographic, clinical, and individual genetic data, age of symptom onset, sex, clinical features, LGMD types, cardiac involvement, muscle biopsy results, family history, and consanguinity.

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

Introduction: Congenital glycosylation disorders are multisystem diseases with heterogeneous clinical manifestations caused by defects in the synthesis of the glycan moiety of glycoproteins or glycolipids or the binding of glycans to proteins and lipids. DPAGT1 (UDP-GlcNAc: dolichol phosphate N-acetylglucosamine-1-phosphotransferase) is an initiating protein in the biosynthetic pathway of dolichol-linked oligosaccharides required for protein N-glycosylation. Pathogenic variants in (UDP-GlcNAc: dolichol phosphate N-acetylglucosamine-1-phosphotransferase) gene cause a rare type of congenital glycosylation disorder called DPAGT1-CDG (formerly CDG-Ij) (OMIM #608093).

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.

Background: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. Juvenile myasthenia gravis is an autoimmune condition usually caused by antibodies targeting the acetylcholine receptor.

Aims: Our objective is to conduct an analysis on the subgroup traits exhibited by patients who have been diagnosed with congenital myasthenic syndrome and juvenile myasthenia gravis, with a focus on their long-term monitoring and management.

The fate of spikes in self-limited epilepsy with centrotemporal spikes: Are clinical and baseline EEG features effective?

Objective: The aim of this study is to evaluate the effects of clinical and electroencephalographic features on spike reduction with a focus on the first EEG characteristics in self-limited epilepsy with centrotemporal spikes (SeLECTS).

Methods: This retrospective study was conducted on SeLECTS patients of with at least five years follow-up and at least two EEG recordings in which spike wave indexes (SWI) were calculated.

Results: 136 patients were enrolled.

Immunization status of patients with spinal muscular atrophy receiving nusinersen therapy.

Background: Children with chronic neurological diseases, including spinal muscular atrophy (SMA), are particularly susceptible to vaccine-preventable infections. We aimed to evaluate the age-appropriate immunization status and its relationship with nusinersen therapy in pediatric patients with SMA.

Methods: Children with SMA who received nusinersen treatment were included in this cross-sectional prospective study.

Evaluation of vincristine-induced peripheral neuropathy in children with cancer: Turkish validity and reliability study.

Background: The evaluation of peripheral neuropathy in children receiving Vincristine treatment is challenging. This study examined the Turkish validity and reliability of the Total Neuropathy Score-Pediatric Vincristine (TNS-PV) measurement tool, which can measure Vincristine-induced peripheral neuropathy symptoms in children with cancer.

Methods: A total of 53 children aged 5-17 years who received Vincristine treatment in two pediatric hematology-oncology centers participated in the study.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

Examination of the psychometric properties of pediatric-modified total neuropathy score in Turkish children with cancer.

Background: Evaluation of chemotherapy-induced peripheral neuropathy has gained importance in symptom management of pediatric patients with cancer. This study aimed to perform the Turkish validity and reliability study of the Pediatric-Modified Total Neuropathy Score (Ped-mTNS).

Methods: A methodological, descriptive, and cross-sectional design was used in the study.

Sural Sparing Pattern and Sensory Ratio as Electrodiagnostic and Prognostic Markers in Pediatric Guillain-Barré Syndrome.

Background: We aimed to evaluate the presence of sural sparing pattern (SSP) and sensory ratio in pediatric Guillain-Barré syndrome (GBS), their distribution to subtypes, and their relationship with demographic and clinical features with a focus on the disability and muscle strength.

Methods: This single-center retrospective study was conducted on pediatric GBS patients of both sexes with 2 years follow-up and two nerve conduction studies in which SSP and sensory ratio were calculated. Three subgroups of SSP were formed by separate calculation of median (SSP-m) and ulnar (SSP-u) and both median and ulnar sensory nerve action potentials (SNAPs; SSP-total).

Optic neuritis in CD59 deficiency: an extremely rare presentation.

Background: CD59 is the principal cell inhibitor of complement membrane attack on cells. Stroke, peripheral neuropathy, and recurrent central nervous system attacks have been reported in patients with inherited CD59 deficiency. In this paper, we report a patient with CD59 deficiency associated with two attacks of demyelinating peripheral neuropathy and the third attack as an isolated optic neuritis.

Recurrent painful ophthalmoplegic neuropathy: a report of two new pediatric cases.

Background: Recurrent painful ophthalmologic neuropathy (RPON), formerly known as ophthalmoplegic migraine, is characterized by repeated attacks of one or more ocular cranial nerve palsies with an ipsilateral headache. While steroid therapy has been reported to be beneficial for attacks, no clear consensus on prophylactic treatments exists. We present two cases emphasizing the diagnostic significance of the loss of enhancement during the symptom-free period and valproate as a beneficial option in prophylaxis.

The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy.

Introduction: We evaluated the effect of nusinersen on clinical and laboratory parameters and presented its safety and effect on laboratory parameters.

Methods: Two groups were formed from among patients with spinal muscular atrophy (SMA) followed up between September 2017 and June 2021: group 1, SMA type 1; group 2, SMA type 2 and 3. The laboratory parameters were evaluated in groups 1 and 2 between doses.