50 Years Ago in The Journal of Pediatrics
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Transcript of 50 Years Ago in The Journal of Pediatrics
March 2014 ORIGINAL ARTICLES
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50 Years Ago in THE JOURNAL OF PEDIATRICS
The Hypotonic InfantRabe EF. J Pediatr 1964;64:422-40
Fifty years ago, Rabe reviewed the advances in pathologic understanding of the hypotonic infant in “Medical Prog-ress,” a section still featured today in The Journal. In the light of today’s medicine, the progress then seems “in-
fantile.” Advances achieved in the half-century since would astound the author.Certainly, some fundamental concepts are timeless. The floppy baby continues to present with excessive head lag,
“slip through” on vertical suspension, drooping with horizontal suspension, and a frogleg posture when supine. Thepediatrician’s initial task remains to localize by physical exam the site of pathology, in order to elucidate the diagnosis:brain and brainstem (eg, Down syndrome, Tay-Sachs disease, and kernicterus); spine (eg, Werdnig–Hoffman disease,better known today as spinal muscular atrophy); peripheral nerve (eg, Guillain–Barr�e syndrome); neuromuscularjunction (eg, myasthenia gravis); or muscle (eg, myotonic dystrophy, Pomp�e disease, and muscular dystrophies).
Strikingly different is the diagnostic armamentarium now available. Fifty years ago, Rabe highlighted that elevatedserum alanine aminotransaminase, aspartate aminotransaminase, and creatine kinase, in the setting of normal gammaglutamyl transpeptidase, point to a myopathic process. Electromyography was helpful with “dive bomber potentials”sometimes upon needle insertion in Pomp�e disease or myotonic dystrophy, or fibrillation potentials in spinalmuscular atrophy, but these findings lack sensitivity and specificity. Today, after serum enzymes, the clinician oftenobtains brain magnetic resonance imaging to exclude a cerebral process, and also reaches for one of many genetic tests,to sequence the survival motor neuron 1 gene in spinal muscular atrophy, CTG triplet repeats in myotonic dystrophy,the acid a-glucosidase gene in Pompe disease, dystrophin and other genes for congenital muscular dystrophies, andevenmitochondrial DNA inmyopathies undefined years ago. Infant botulism had yet to be described in 1964, and nowwe can detect Clostridum botulinum toxin from stool to make that diagnosis.
With this explosion of molecular and genetic insights to somany of the floppy baby’s pathologies, one can only hopethat new therapies over the next 50 years will make today’s achievements appear childish. Current trials in enzymereplacement, gene insertion, and antisense oligonucleotides are exciting and promising.1 The future for treating floppybabies who grow up to be functional adults should be much brighter in less than 50 years.
Paul Graham Fisher, MDDepartments of Neurology, Pediatrics, and Human Biology
Stanford UniversityLucile Packard Children’s Hospital
Palo Alto, Californiahttp://dx.doi.org/10.1016/j.jpeds.2013.09.052
Reference
1. Leung DR, Wagner KR. Therapeutic advances in muscular dystrophy. Ann Neurol 2013;74:404-11.
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