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I. Report of a Case and Biochemical Studies

Joseph H. French, MD; Earl S. Sherard, MD; Harry Lubell, MD; Miriam Brotz; Cyril L. Moore, PhD

Arch Neurol. 1972;26(3):229-244.

Abstract
A new case of a rare disease previously named "a sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration" is reported. The name trichopoliodystrophy is suggested. Manifestations include seizures; developmental regression; light, sparse, coarse, stiff hair with monilethrix, trichorrhexis nodosa, and pili torti; deficient head growth; micrognathia; and hypotonia, neurophysiologically not localized to lower motor neurons or peripheral nerves. Tocopheral and ubiquinone were decreased in body fluids. White matter myelin and gray matter ganglioside were diminished. Whie matter ganglioside was increased without altered distribution. The myelin lipid pattern was immature. White matter phosphatidyl ethanolamine was deficit in longer chain length unsaturated fatty acids. Muscle glycogen was increased. Brain, muscle, and liver mitochondrial cytochrome a + a₃ was diminished. Deficient terminal respiration may explain some of the findings.

Author Affiliations
Bronx, NY

From the departments of neurology (Dr. French) and pediatrics (Drs. French and Lubell), Montefiore Hospital and Medical Center, and the Saul R. Korey Department of Neurology, Albert Einstein College of Medicine (Dr. French, Miss Brotz, and Dr. Moore), Bronx, NY. Dr. Sherard is now with the Ohio State University School of Medicine, Columbus, Ohio.

Footnotes
Accepted for publication Aug 12, 1971.

Deceased

Reprint requests to the Montefiore Hospital and Medical Center, Bronx, NY 10467 (Dr. French).

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