Long-Term Survival in a Child With Arthrogryposis Multiplex Congenita and Spinal Muscular Atrophy

Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a much better course and is alive without ventilator support at age 6 years. This case illustrates that the prognosis for spinal muscular atrophy and arthrogryposis multiplex congenita cannot always be predicted with certainty. (J Child Neurol 2001;16:934-936).

[1]  S. Huson,et al.  Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype. , 2000, American journal of medical genetics.

[2]  S. Sukno,et al.  [Cerebral agyria-pachygyria in a child with Werdnig-Hoffmann disease]. , 1999, Revue neurologique.

[3]  A. Vincent,et al.  Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. , 1999, The Journal of clinical investigation.

[4]  R. Zimmerman,et al.  MR findings of Werdnig-Hoffmann disease in two infants. , 1998, AJNR. American journal of neuroradiology.

[5]  L. Rorke,et al.  Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene , 1997, Neurology.

[6]  E. Mercuri,et al.  Evaluation of the corpus callosum in clumsy children born prematurely: a functional and morphological study. , 1996, Neuropediatrics.

[7]  A. Munnich,et al.  Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. , 1996, The Journal of clinical investigation.

[8]  B. Wirth,et al.  Clinical Spectrum and Diagnostic Criteria of Infantile Spinal Muscular Atrophy: Further Delineation on the Basis of SMN Gene Deletion Findings , 1996, Neuropediatrics.

[9]  S. Huson,et al.  Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen , 1995, The Lancet.

[10]  T. Momose,et al.  Spinal muscular atrophy with oculomotor palsy, epilepsy, and cerebellar hypoperfusion. , 1995, Pediatric neurology.

[11]  V. Jay,et al.  Arthrogryposis multiplex congenita due to congenital myasthenic syndrome. , 1995, Pediatric neurology.

[12]  B. Russman,et al.  Spinal Muscular Atrophy: New Thoughts on the Pathogenesis and Classification Schema , 1992, Journal of child neurology.

[13]  P. Patel,et al.  Brain atrophy in Werdnig‐Hoffmann disease , 1991, Acta neurologica Scandinavica.

[14]  B. Banker.  Arthrogryposis multiplex congenita: spectrum of pathologic changes. , 1986, Human pathology.

[15]  S. Clarren,et al.  Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis , 1983, Journal of the Neurological Sciences.

[16]  R. Beckerman,et al.  Arthrogryposis multiplex congenita as part of an inherited symptom complex: two case reports and a review of the literature. , 1978, Pediatrics.

[17]  V. Dubowitz.  Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. , 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[18]  C. Mathew,et al.  Prenatal onset spinal muscular atrophy. , 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[19]  N. Conradi,et al.  A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. , 1988, American journal of medical genetics.