Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G.

Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge. This condition should be considered whenever there is a history of diabetes associated with hearing loss and a relevant family history. Cardiopathy is also known to be an important feature of mitochondrial disease. In order to identify this aetiology, family screening, genetic counselling and screening of associated comorbidities are encouraged.

A síndrome diabetes e surdez de transmissão materna é uma forma rara de diabetes que resulta da mutação A3243G do ADN mitocondrial. Expõe-se o caso de uma doente do sexo feminino, 55 anos de idade, admitida por cardiomiopatia hipertrófica. A doente possui antecedentes de diabetes mellitus e surdez. Da história familiar, destaca-se a mãe e os seus dois irmãos e duas irmãs, que apresentam diabetes e surdez. Este padrão sugere uma doença de herança maternal. Todos são portadores da mutação A3243G do ADN mitocondrial. A identificação de pessoas com formas monogénicas de diabetes mellitus é um desafio diagnóstico. Deve ser considerado sempre que há história de diabetes associada a surdez e história familiar de diabetes. A cardiomiopatia hipertrófica é uma característica importante da patologia mitocondrial. Nestes doentes deve ser considerada a avaliação da família, aconselhamento genético e triagem de comorbilidades associadas.

Small-cell neuroendocrine cancer of the prostate: an atypical presentation of a common disease.

A 70-year-old man with a history of prostate cancer, previously submitted to surgical castration and trans-urethral resection of the prostate, was admitted to Accident and Emergency department. He had been suffering from osteoarticular and abdominal pain, and recent weight loss. An abdominal and a pelvic CT showed multiple hepatic metastases and a pelvic mass, but his prostate-specific antigen values were low (0.26 n/mL). A biopsy of a hepatic metastasis and of the pelvic mass revealed a small-cell neuroendocrine prostate cancer, a rare and aggressive androgen-independent form of prostate cancer with a poor prognosis. Our purpose was to report a clinical case of a rare and aggressive variant of a common disease. A high index of suspicion is required to make an early diagnosis and to ensure a proper therapeutic approach.