From Behr Syndrome to 3-Methyl-Glutacoinc Aciduria Type 3. An “Accidental” Diagnosis of a Case and a Mini-Review

Abstract

In 1989, we have reported 19 patients with clinical features resembling Behr’s syndrome. Somewhat later we were able to pin-point the metabolic nature of the disorder which became known as 3-methyl-glutaconic –aciduria type 3 or Costeff syndrome. The clinical features of this autosomal recessive disorder are quite unique with early onset visual impairment due to progressive optic atrophy, spasticity, cerebellar dysfunction and mental slowness resembling the clinical characteristics of Behr Syndrome (OMIM 21000); Since then, about 40 patients were published until 2020. The diagnosis of this very rare disorder which can be ameliorated with dietary supplements is quite simple to those who are familiar with the syndrome. Increasing the awareness of the syndrome by publishing new cases is quite evident. In this report we will describe in some detail the clinical features of a 25-year-old male who claimed compensation for worsening sight after a mild traumatic head injury. Following a court nomination of an expert neurologist (the author of this paper), the correct diagnosis was quite easily reached. The long road from Behr Syndrome to the establishment of a distinct disease entity and short literature review will be provided.