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.

Genetic and clinical variations of developmental epileptic encephalopathies.

Objective: The concept of 'developmental and epileptic encephalopathy (DEE)' recognises that in infants presenting with severe early-onset epilepsy, neurodevelopmental comorbidity may be attributable to both the underlying cause and to adverse effects of uncontrolled epileptic activity. There is no direct genotype - phenotype correlation in DEEs. This study aimed to report the genetic and phenotypic differences in patients with DEE.

Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability.

Objectives: Lathosterolosis is a rare autosomal recessive congenital disease that occurs due to homozygous or compound heterozygous mutations in the sterol C5-desaturase () gene. We report a male patient with biallelic missense variant detected in the gene.

Case Presentation: An eight-month-old male patient was referred to the department of paediatric neurology for status epilepticus.

A New Variant of the Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey.

Microcephaly, epilepsy and diabetes syndrome 1 (MEDS1) is a rare autosomal recessive disorder caused by defects in the immediate early response 3 interacting protein 1 () gene. Only nine cases have been described in the literature. MEDS1 manifests as microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes.

Evaluation of the Impact of Glycemic Control on Mean Platelet Volume and Platelet Activation in Children with Type 1 Diabetes.

Objective: The studies evaluating cases with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) in the adult population reported hyperreactive platelets and increased activation of prothrombotic factors, resulting in an increased risk of thrombosis. The aim of this study was to evaluate the effects of poor glycemic control and the duration of diabetes on platelet parameters in pediatric population.

Methods: The study included 366 children, out of which 144 (39.

The association between vitamin B12, folate, homocysteine levels, and carotid intima-media thickness in children with obesity: a cross-sectional study.

Objectives: We aimed to evaluate the association between vitamin B12, folate, homocysteine levels, and carotid intima-media thickness (CIMT) among children with obesity in whom vitamin deficiencies are more frequent.

Methods: Herein, 100 children with obesity (58 girls) were included (age, 5-18 years). Height, weight, body mass index (BMI), waist circumference (WC), puberty stage, blood pressure, and biochemical values were collected from medical records; standard deviations (SDS) and percentiles were calculated.

Long-Term Follow-Up of Patients with a Diagnosis of Posterior Reversible Encephalopathy Syndrome.

Objective: The essential characteristics of posterior reversible encephalopathy syndrome (PRES) are the presence of acute onset neurologic symptoms, focal vasogenic edema at neuroimaging, and reversible clinical and/or radiologic findings. This study aimed to evaluate the clinical findings, causes, radiologic findings, and prognoses of patients with PRES.

Methods: Patients with PRES confirmed with clinical and radiologic findings by a pediatric neurologist were evaluated retrospectively.

The relationship between breast milk intake and speech in children with cerebral palsy.

Background/aim: Cerebral palsy (CP) is a nonprogressive neurodevelopmental disorder that cause damage to the developing brain (0–3 years) for various reasons. Children with CP commonly have speech disorders due to impairment in neuromuscular control of oro-motor coordination. We focused on the relationship between breast milk intake and speech functions in children with CP.

Pepper spray inhalation-induced acute polyneuropathy mimicking Guillain-Barre syndrome.

Peripheral neuropathy is the most common reaction to toxic chemical substances in the nervous system. Toxic neuropathies are often misdiagnosed because there are no easily available specific or biologic tests for the diagnosis. Guillain-Barre syndrome is the most common cause of acute flaccid paralysis in children and adolescents.

Glutaric Acidemia Type 1: A Case of Infantile Stroke.

Background: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms.

Case Report: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI.