Trichopoliodystrophy

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. (26:229-244, 1972)

The genetics of hair shaft disorders

“…The primary hair finding in classic Menkes syndrome (MS; Menkes kinky hair syndrome) is PT, but other defects, such as TN, have been described. 190,191 This X-linked recessive condition is associated with skin and hair hypopigmentation, progressive neurologic degeneration with mental retardation, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. [192][193][194] Patients exhibit low serum concentrations of copper and ceruloplasmin.…”

Laboratory approach to mitochondrial diseases

“…In the 70's, research to respiratory chain deficiencies showed its relationship with myopathies, some of them without the structural alterations of mitochondrial morphology that had been observed in Luft disease. Moreover, respiratory chain anomalies were related to central nervous system and skeletal muscle symptoms (5,27,121). Later, myopathies related to deficiencies of carnitine and enzymatic defects in fatty acids oxidation were described (22,24).…”