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NEUROLOGY 2006;67:2066-2069
© 2006 American Academy of Neurology
Brief Communications

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

M. Timmons, MD, M. Tsokos, MD, M. Abu Asab, PhD, S. B. Seminara, MD, G. C. Zirzow, BS, C. R. Kaneski, MS, J. D. Heiss, MD, M. S. van der Knaap, MD, PhD, M. T. Vanier, MD, PhD, R. Schiffmann, MD and K. Wong, MD

From the Developmental and Metabolic Neurology Branch (M.T., G.C.Z., C.R.K., R.S.) and the Surgical Neurology Branch (J.D.H.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD (M.T.); Reproductive Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA (M.A.A., S.B.S.); Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands (M.S.v.d.K.); Lyon-Sud Medical School and Fondation Gillet-Merieux, Lyon-Sud University Hospital, Pierre-Benite, France (M.T.V.); and Division of Neuropathology, Wilford Hall Medical Center, San Antonio, TX (K.W.).

Address correspondence and reprint requests to Raphael Schiffmann, MD, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260; e-mail: rs4e{at}nih.gov

We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia. Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granular debris-lined clefts, expanded abaxonal space, outpocketing with vacuolar disruption, and loss of normal myelin periodicity. Reduced galactocerebroside, sphingomyelin, and GM1-N-acetylglucosamine and increased esterified cholesterol were found. This is a clinically homogeneous progressive hypomyelinating disorder. The term 4H syndrome is suggested.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 12 issue to find the title link for this article.

Supported in part by the Intramural Program of the National Institute of Neurological Disorders and Stroke (Project 1 Z01 NS002984).

Disclosure: The authors report no conflicts of interest.

Received April 11, 2006. Accepted in final form August 3, 2006.




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[Abstract] [Full Text] [PDF]


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