Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS

Headache during airplane travel (“airplane headache”): first case in Greece

Headache related to airplane flights is rare. We describe a 37-year-old female patient with multiple intense, jabbing headache episodes over the last 3 years that occur exclusively during airplane flights. The pain manifests during take-off and landing, and is located always in the left retro-orbital and frontotemporal area. It is occasionally accompanied by dizziness, but no additional symptoms occur. Pain intensity diminishes and disappears after 15–20 min. Apart from occasional dizziness, no other symptoms occur. The patient has a history of tension-type headache and polycystic ovaries. Blood tests and imaging revealed no abnormalities. Here, we present the first case in Greece. We review the current literature on this rare syndrome and discuss on possible pathophysiology and the investigation of possible co-factors such as anxiety and depression

Update on Congenital Myopathies in Adulthood

Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood

Amyotrophic lateral sclerosis and prolactinoma

A 59-year-old male with amyotrophic lateral sclerosis is presented. Investigations revealed the co-existence of a pituitary adenoma of the prolactinoma type This combination has not been reported before. The possible relation between endocrinological disturbances and this neurological disease is discusse