Persistent organic personality change as rare psychiatric manifestation of MELAS syndrome.
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Adult↗
Biomedical subjects
Janet Schmiedel
Publications and source records attributed to Janet Schmiedel.
Mitochondrial cytopathies.
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous systems. They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear DNA-mutations. Today, approximately 200 different disease causing mutations of mitochondrial DNA (mtDNA) are known, and due to the increased knowledge about nuclear genetics during the last few years, more and more nuclear mutations are being described. Owing to the non-uniform distribution of mitochondria in tissues and the co-existence of mutated and wildtype mtDNA (heteroplasmy) in these organelles, these disorders may present with a huge variety of symptoms, even if the same mutation is involved. Diagnostic investigations should include the measurement of serum and CSF lactate, neuroradiological tests and a muscle biopsy to show the characteristic ragged-red fibres and cytochrome c oxidase deficient cells and also to provide material for genetic analysis. To date, the treatment of these diseases remains supportive and should focus on typical complications such as cardiac dysrhythmia and endocrinopathy.
Animals↗
Deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia.
Worsening of the neuromuscular manifestations in Kearns-Sayre syndrome after administering local anesthesia with articaine has not been reported. The authors describe a severe adverse reaction to local anesthesia with articaine for tooth extraction in a 28-year-old woman with Kearns-Sayre syndrome due to a 5.9-kb mitochondrial DNA deletion. The patient was subjected to local anesthesia with 1.5 mL (60 mg) articaine in the left submandibular nerve for tooth extraction. Five minutes after the injection the patient developed weakness of the limb muscles, extreme fatigue with increased desire to sleep, a feeling of heat, inappetence, and frequent urination. The adverse reaction resolved spontaneously within 48 hours without sequelae. Administration of articaine may cause severe side effects in patients with Kearns-Sayre syndrome. Articaine should be used with caution in these patients.
Anesthesia, Local↗