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Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures

Department of Neonatology Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Katja Grohmann, MD

Department of Pediatric Neurology Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Anja Harder, MD

Institute of Neuropathology Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Christine Stadelmann, MD

Institute of Neuropathology Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Klaus Zerres, MD

Institute for Human Genetics Aachen University of Technology Aachen, Germany

Christoph Bührer, MD

Department of Neonatology, Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Michael Obladen, MD

Department of Neonatology, Charité, Campus Virchow Klinikum Humboldt University Berlin, Germany

Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMN1) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures. (J Child Neurol 2002;17:718-721).

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