Asunto(s)
Leucemia Mielógena Crónica BCR-ABL Positiva , Papiledema , Enfermedad Crónica , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/complicaciones , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Papiledema/diagnóstico , Papiledema/etiologíaRESUMEN
Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used. There are now specific enzyme replacement therapies available, and other metabolic strategies and gene therapies are undergoing clinical trials. Here, we discuss our approach to the adult patient with suspected metabolic myopathy. We outline key features in the history and examination and discuss some mimics of metabolic myopathies. We highlight some disorders of glycogen and fatty acid utilisation that present in adulthood and outline current recommendations on management.
Asunto(s)
Enfermedades Metabólicas/complicaciones , Enfermedades Musculares/complicaciones , Humanos , Enfermedades Metabólicas/metabolismo , Enfermedades Musculares/metabolismoRESUMEN
BACKGROUND: Chiari I malformations (CM-I) have been associated with a variety of developmental abnormalities in the literature. A few cases of CM-I in patients with Noonan syndrome (NS) have been reported; however, opinion remains divided as to whether the observed association is coincidental. DISCUSSION: Six previous cases of CM-I in patients with NS have been described in the literature. Many of these had other neurological abnormalities; however, neurological problems are not a prominent part of earlier descriptions of NS. A statistically significant association between NS and CM-I is difficult to obtain at present due to availability and logistical issues with scanning many asymptomatic patients. Although we believe a link exists between CM-I and NS, there is little understanding on how NS may cause CM-I. The most logical cause would be posterior fossa abnormality; however, the most common genetic mutation in NS tends to cause frontal and facial abnormalities, and the posterior fossa tends to be relatively spared. Other genetic mutations may also affect the posterior cranium and thus create the appropriate conditions for a CM-I to develop. ILLUSTRATIVE CASE: We report a case of CM-I in a 9-year-old patient with Noonan syndrome, severe scoliosis and syringomyelia. CONCLUSION: We believe that CM-I is a part of Noonan syndrome; however, statistical validation of this opinion is necessary.