Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case.

Abstract

Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with severe central nervous system involvement and muscular atrophy in a 34-year-old male. He had psychomotor retardation and seizures since early childhood and now presented severe mental retardation and generalized muscular atrophy in addition to characteristic facial appearance, hyperelasticity of the skin and joint subluxation. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiographic imaging showed occipital exostoses, bladder diverticula, tortuosity of the peripheral vein and osteoporosis of the skeletal bones. The activity of lysyl oxidase, a copper-enzyme involved in cross-link formation in collagen, was found to be decreased in a skin-biopsy specimen. Electron-microscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of concentric laminated bodies in the subsarcolemmal regions.

• Authors: S Wakai, Y Ishikawa, M Nagaoka, M Okabe, R Minami, T Hayakawa
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 116 Issue 1 Pg. 1-5 (May 1993) ISSN: 0022-510X [Print] Netherlands
• PMID: 8099605 (Publication Type: Case Reports, Journal Article)

Chemical References

• Copper
• Elastin
• Dopamine beta-Hydroxylase
• Ceruloplasmin
• Protein-Lysine 6-Oxidase
• Monoamine Oxidase
• Electron Transport Complex IV
• Lysine
• Calcium

Topics

• Adult
• Atrophy
• Calcium (blood)
• Ceruloplasmin (analysis)
• Copper (blood)
• Dopamine beta-Hydroxylase (blood)
• Ehlers-Danlos Syndrome (diagnostic imaging, pathology)
• Elastin (analysis, metabolism)
• Electron Transport Complex IV (analysis, metabolism)
• Humans
• Lysine (metabolism)
• Male
• Monoamine Oxidase (blood)
• Muscles (metabolism, pathology, ultrastructure)
• Occipital Lobe (diagnostic imaging)
• Protein-Lysine 6-Oxidase (analysis, metabolism)
• Radiography
• Skin (metabolism, pathology)