Enlargement of the LA volume with unchanged blood pressure values, as found using RT3DE, may be part of the adaptation to increased blood volume during pregnancy.
Idiopathic bilateral facial paralysis, although rare, seems to be more frequent during the last trimester of pregnancy and in the early puerperium. Unlike unilateral facial paralysis where the cause is mostly idiopathic, bilateral facial palsy is less often idiopathic, and various etiologies had been suggested.We present herein, an unusual case of simultaneous idiopathic bilateral Bell's palsy during the third trimester of pregnancy.
Acyl‐CoA dehydrogenase family member 9 (ACAD9) is an enzyme essential for the assembly of mitochondrial respiratory chain complex I. ACAD9 deficiency can cause lactic acidosis, myopathy, cardiomyopathy, intellectual disability, and early demise. We present a patient with mitochondrial myopathy, hypertrophic cardiomyopathy, and epilepsy due to recessive ACAD9 mutations. A muscle biopsy depicted ragged red fibers, and decreased activity of complex I of the respiratory chain. Treatment with riboflavin was initiated at the age of 4 years due to complex I deficiency (before the genetic diagnosis), resulting in symptomatic improvement of the cardiomyopathy, exercise intolerance, and lactate levels. A novel homozygous ACAD9 mutation was found: c.398G>A; p.Ser133Asn at the age of 23 years. Three years later she sustained a normal pregnancy, and gave birth to a healthy baby girl delivered by an elective Cesarean section. To the best of our knowledge, this is the first description of a successful pregnancy and delivery in a patient with this rare mitochondrial disease.
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