A new syndrome of myopathy with muscle spindle excess*

Stephani Stassou 1. , Ali Nadroo 2. , Romaine Schubert 3. , Steven Chin 4. ,  and Madhu Gudavalli 5.
  • 1. New York Methodist Hospital, Department of Pediatrics, Brooklyn, NY, USA
  • 2. New York Methodist Hospital, Department of Pediatrics, Brooklyn, NY, USA
  • 3. New York Methodist Hospital, Department of Pediatrics, Brooklyn, NY, USA
  • 4. Columbia University, College of Physicians and Surgeons, Pathology Department, New York, NY, USA
  • 5. New York Methodist Hospital, Department of Pediatrics, Brooklyn, NY, USA

Abstract

Arthrogryposis may result from various neuromuscular or connective tissue disorders leading to in utero hypokinesia or akinesia and the prenatal development of joint contractures. We report the case of a preterm neonate born with arthrogryposis and flaccid quadriplegia that led to the diagnosis of myopathy with muscle spindle excess. The rare and unusual histopathologic abnormality associated with the myopathy illustrated in this case has been described in only three other cases in the medical literature. The concurrence of hypertrophic cardiomyopathy, arthrogryposis, and myopathy with muscle spindle excess suggests the presence of a newly described syndrome. This case clearly demonstrates that specific prenatal ultrasonographic findings combined with the presenting clinical manifestations should promptly raise the suspicion of a neuromuscular disorder.

  • 1

    Bodensteiner JB: Congenital myopathies. Muscle Nerve 17 (1994) 131

  • 2

    de Boode WP, BA Semmekrot, HJ Ter Laak, CJAM Van der Burgt, JM Draisma, E Lommen. et al.: Myopathology in patients with a Noonan phenotype. Acta Neuropathol (Berl) 92 (1996) 597

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  • 3

    Engel AG: Myology. McGraw-Hill, New York 1994

  • 4

    Jones KL: Recognizable patterns of human malformation, 5th edition. W.B. Saunders, Philadelphia 1997

  • 5

    Nishimura G, K Kurosawa, H Kobayashi, H Kawame: Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs. Pediatr Radiol 28 (1998) 856

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  • 6

    Selcen D, W Kupsky, D Benjamins: Myopathy with muscle spindle excess: a new congenital neuromuscular syndrome? Muscle Nerve 24 (2001) 138

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