We present a male infant with congenital fractures and features typical of spinal muscular atrophy. Mid-shaft fractures of the left humerus and both femurs occurred in utero. The patient died at 8 months of age following recurrent respiratory tract infections. His peripheral electrophysiologic studies were consistent with anterior horn cell disease. Molecular genetic studies were negative for the SMN gene. At autopsy, extensive anterior horn cell loss was present. There was extensive disease of skeletal muscle with relative sparing of the diaphragm. This patient represents a further case of this rare and fatal disease. (J Child Neurol 2002;17:721-723).
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References
1.
Borochowitz Z., Glick B., Blazer S.: Infantile spinal muscular atrophy (SMA) and multiple congenital fractures in sibs: A lethal new syndrome. J Med Genet1991;28:345-348.
2.
Garcia-Alix A., Rodriguez JI, Quero J.: A new form of infantile muscular atrophy, letter. J Med Genet1992;29:215.
3.
Rudnik-Schonebom S., Forkert R., Hahnen E., et al: Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings. Neuropediatrics1996;27(1):8-15.
4.
Kelly TE, Amoroso K., Ferre M., et al: Spinal muscular atrophy variant with congenital fractures. Am J Med Genet1999;87:65-68.
5.
Kobayashi H. , Baumbach L., Matise TC, et al: A gene for a severe form of X-linked arthrogryposis (X-linked spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. Hum Mol Genet1995;4:1213-1216.
6.
Doyu M., Sobue G., Mukai E., et al: Severity of X-linked recessive bulbospinal neuronopathy with size of the tandem CAG repeat in androgen gene. Ann Neurol1992;32:707-710.
7.
Guidetti D., Vescovini E., Motti L., et al: X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. J Neurol Sci1996 ;135:140-148.
8.
Rodriguez JI , Garcia-Alix A., Palacios J., Paniagua R.: Changes in the long bones due to fetal immobility caused by neuromuscular disease. J Bone Joint Surg (Am)1988;70:1052-1060.
9.
Burke SW, Jameson VP, Roberts JM, et al: Birth fractures in spinal muscular atrophy. J Pediatr Orthop1986;6(1):34-36.
