Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.

INTRODUCTION: Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations. CASE PRESENTATION: We present a boy who has the clinical and radiological signs of SEMD-M with a dominant TRPV4 mutation. He also has some striking findings that have not been seen in these patients before, and they may be able to provide assistance to medical professionals in the process of diagnosis.These include a shorter distance between his lumbar vertebrae, congenital contractures, and an arachnoid cyst.

Autoimmune/autoinflammatory syndrome induced by adjuvants after multi-component meningococcal serogroup B vaccination in a 7-year-old girl: a case report.

BACKGROUND: Vaccines, which make it possible to be protected from many life-threatening infectious diseases, have been used safely and effectively for years. Most vaccines used today contain a variety of adjuvants and exogenous proteins. Severe reactions, in addition to transient and self-limiting mild reactions, mostly caused by these components, have been reported. The effects of vaccine adjuvants on the pathogenesis of immunemediated diseases are still under investigation. The syndrome called Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been defined in the literature. CASE: We found a novel mutation of autoinflammatory diseases in the genetic analysis of our patient. The patient developed symptoms of prolonged fever, rash, arthritis and serositis after multicomponent serogroup B meningococcal (Bexsero®) vaccination, without a previously known rheumatic disease. In the presence of clinical findings in our patient, the diagnostic criteria of ASIA syndrome were met. CONCLUSION: To the best of our knowledge, this is the first case report of a patient diagnosed with the autoinflammatory disease with a novel mutation after Bexsero® vaccination. We consider that genetic examinations will be useful in patients with a systemic vaccine reaction in the presence of ASIA when diagnostic criteria are met.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome.

In recent years, it has been suggested that defects in energy metabolism may accompany Prader Willi syndrome. Mutations in the mitochondrial cytochrome b gene have been commonly associated isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders. The authors describe a novel mutation (mt. 15209T>C) in mitochondrial cytochrome b gene in a 2-year-old girl with Prader-Willi syndrome with a clinical history of lactic acidosis attacks, renal sodium loss, hepatopathy, progressive cerebral atrophy, and sudden death. The authors suggest that atypical clinical findings in patients with Prader-Willi syndrome should direct the physician to search for a mitochondrial disease.