Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.

Objectives: Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich congenital muscular dystrophy.

Methods: In this study, we evaluated the clinical, pathologic, and genetic features of 8 patients with Bethlem myopathy from 3 families.

Results: We inspected disease course differences with age and mutations.

Hashimoto's encephalopathy in children: different manifestations of five cases.

Hashimoto's encephalopathy (HE) is a rare, poorly understood, progressive and relapsing, steroid-responsive multiform disease. HE presents with subacute cognitive dysfunction, psychiatric symptoms, seizures, and movement disorders. The disorder is usually related to thyroid disease and the most frequent feature is the presence of anti-thyroperoxidase antibodies.

Effects of levetiracetam and valproic acid treatment on liver function tests, plasma free carnitine and lipid peroxidation in childhood epilepsies.

Background And Aims: The relationship between anti-epileptic usage and oxidative damage has not yet been clearly understood. In our study, we investigated oxidative stress parameters, carnitine levels, liver function tests (LFT) and their relationship in epileptic children treated with valproic acid or levetiracetam.

Method: LFTs, serum free carnitine and oxidative damage markers and their relations with each other were determined in patients who are on valproic acid or levetiracetam treatment at least for 6 months.

A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene.

Dravet syndrome is a catastrophic progressive epileptic syndrome. De novo loss of function mutations on the SCN1A gene coding voltage-gated sodium channels are responsible. Disruption of the triggering of hippocampal GABAergic interneurons is assumed as the cause of fall in the seizure threshold.

Hashimoto's encephalopathy presenting as pseudobulbar palsy.

Introduction: Hashimoto's encephalopathy (HE) is an autoimmune condition with varied neurological and psychiatric features. HE is very unusual as a cause of pseudobulbar palsy (PSP).

Case Presentation: A 14-year-old male was admitted with right-sided weakness, dysphagia, speech disorder, and aggressiveness.

Complete paralytic botulism mimicking a deep coma in a child.

Botulism is a rare cause of neuroparalysis. Delay in diagnosis and treatment exerts adverse impact on mortality and morbidity. We report a child with complete flaccid paralysis followed by progression to coma-like consciousness.