Trichopoliodystrophy

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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 + a3was diminished. Deficient terminal respiration may explain some of the findings.

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