Acute familial infantile heredodegenerative disorder of the central nervous system

This case report of a family with a recessive neurodegenerative disorder illustrates the myriad of changes that have occurred in the practice of what we now refer to as neurogenetics, in 50 years. It shows as well the progress made in the diagnosis of this family of conditions. It is doubtful that anyone would perform and report the history and physical examination as meticulously as in this paper, and it is possible that modern pediatric neurologists could not do so. Pathology has taken a back seat to enzymatic and DNA studies with the consequent benefit of far faster and far less invasive diagnostic methods. If a geneticist were involved, the patient might not even have had imaging studies. No one would write, in such detail, of each of the possible disorders, since we now appreciate the overlap between their manifestations, interindividual variations for identical mutations, and of course, the redefinition of diseases, initially by their enzyme deficits, and more recently by their mutations. More “mild” mutations result in later onset and often in different clinical manifestations despite involvement of the same gene. One can even argue that clinical eponyms (perhaps anachronistic for all disorders) should be limited to the clinical manifestations regardless of the genetic cause, creating a dissociation between historical and modern visions of these diseases.