Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.

Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency (MIM 201475) is a rare inherited disorder with three forms of clinical presentation: a severe early-onset form; an intermediate form with childhood onset; and an adult-onset form, of mild severity. During adolescence and adulthood, exercise intolerance, myalgia and recurrent episodes of rhabdomyolysis are the main clinical features. The authors present a case of a 13-year old female, with severe myalgia and dark urine after prolonged exercise.

Audiologic abnormalities of Fanconi anaemia.

Conclusions: The most common audiologic manifestation in Fanconi anaemia (FA) was asymmetrical bilateral conductive hearing loss that was more severe at lower frequencies and in some cases had a progressive character. The routine screening of all patients diagnosed with FA allowed the recognition of mild hearing loss and the prevention of the deleterious effects of its progression with adequate rehabilitation measures.

Objectives: FA is an autosomal recessive disease characterized by bone marrow failure, multiple congenital anomalies and increased susceptibility to malignancy.