Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Menkes' kinky hair disease (trichopoliodystrophy) is a rare inherited X-linked recessive disease with an incidence of about 1:35,000, and is rare reported previously in Taiwan. We present 2 cases with typical features including sparse, coarse and stubby, kinky hair, depigmented skin, pudgy face, arrow-shaped upper lip, hypotonia, Babinski signs bilaterally, profound psychomotor retardation with disability of head control or rolling over, and poorly controlled myoclonic jerks. Both were male infants with a family history of male relatives died in early childhood. Their hairs showed pili torti and trichorrhexis nodosa microscopically. Serum levels of copper were 14 ug/dl and 20 ug/dl. Ceruloplasmin levels were 10.4 mg/dl and less than 7 mg/dl. Their EEG showed abnormal generalized brain polyspike waves. Brain CT scan showed generalized brain atrophy, and chronic subdural hematoma in case 1. Bilateral urinary bladder diverticula and spurs over the distal ends of the femoral diaphysis were found in case 1. Normal urinary bladder was found in case 2 initially, then diverticula developed one year later. They are currently on anticonvulsants (Rivotril) therapy. Repeated attacks of respiratory infection, myoclonic seizure, hypotonia, and static neurologic developmental status are noted.
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PMID:[Menkes' kinky hair disease: report of 2 cases]. 217 69

We report the first case of Menkes' disease in Korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal destruction and abnormally tortuous and elongated large arteries including cerebral, visceral and limb vessels. Microscopically, many of the hairs formed were twisted (pili torti), of varying caliber (monilethrix), and fractured (trichorrhexis nodosa). In the radioactivated analysis of scalp hair, copper elements was not found. The abnormal vessels were characterized by fragmentation and disruption of the internal elastic lamina with intimal proliferation. The neuronal destruction was widespread in the cerebral gray matter and in the cerebellum, and there was associated gliosis. The changes in the cerebellum were particularly severe, with neuronal loss in the internal granular cell layer. Many Purkinje cells were lost, and the remainder showed unusual dendritic sprouts from the cell body and grotesque proliferation of dendritic tree. In other organs, mild chronic peribronchitis, and scattered foci of immature glomeruli in renal cortex were noted.
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PMID:Menkes disease--an autopsy case with metal analysis of hair. 326 46

Authors report the cases of a boy with a Menkes' disease which began by a convulsive encephalopathy at the age of two months with growth failure and metaphysical abnormalities. An oldest brother died at 2 years of age in an analogous scene. The diagnosis proved to be founded by the low serum copper and coeruleo-plasmia levels and by the increased uptake of copper in the cultured skin-fibroblasts. The hair was thin and kinky; microscopical study showed pili torti and trichorrhexis nodosa. For the following pregnancy of the mother, a prenatal diagnosis by precocious amniocentesis (amniotic fluid punction) allowed to say that the boy she was expecting for was clear of the disease because of the normal uptake of copper 64 Cu in cultured amniotic fluid cells of the foetus. Authors recall that Menkes' disease is a X linked recessive disorder beginning by epileptic seizure in the early months of life. The basic biochemical lesion of copper metabolism is unknown; there are abnormalities in copper and his binding protein (metallothionein) distribution with increased level is the kidney and decreased level in brain and liver. The copper therapy does not lead to clinical improvement. There is now a prenatal diagnosis: the study of copper uptake in cultured amniotic fluid cells of male fetus. It is abnormally increased in Menkes' disease.
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PMID:[A new case of Menkes syndrome. Prenatal exclusion diagnosis in a subsequent pregnancy]. 673 27

Six children with morphological hair-shaft abnormalities and neurological disease are presented, including two with Pollitt syndrome, one with biotin deficiency, two with Menkes diseases and one with argininosuccinic aciduria. The child with biotin deficiency grew normal hair following oral biotin therapy. Although the hair-shaft abnormalities may be seen with light microscopy (LM), they are best visualised with scanning electron-microscopy (SEM). Pili torti may be mistaken for monilethrix by LM, but SEM shows the true defect. A review of the literature shows that these hair-shaft abnormalities (trichorrhexis nodosa, monilethrix and pili torti) are not specific or pathognomonic, but do indicate a group of neurological disorders, including potentially treatable inborn errors of metabolism. The term 'neurotrichosis' is suggested to classify this group of disorders.
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PMID:Neurotrichosis: hair-shaft abnormalities associated with neurological diseases. 714 Nov 20

Three new cases of Menkes' kinky-hair syndrome are presented. In each case the diagnosis was confirmed biochemically, but light microscopy failed to demonstrate the characteristic hair changes. However, when scanning electron-microscopy was used, pili torti and trichorrhexis nodosa were seen clearly in the samples taken from each case. In addition, monilethrix, a change noted in other reports, was seen to be an optical effect produced at the point of a twist. Hair samples were obtained from female relatives of the three affected families and were similarly examined. Changes indicative of carrier status were observed in two of the three mothers and also in a normal sister and half-sister.
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PMID:Menkes' syndrome (trichopoliodystrophy): use of scanning electron-microscope in diagnosis and carrier identification. 725 May 45

Abnormalities in the hair can be congenital or acquired conditions. Examples of genetic disorders with associated hair abnormalities include Menkes syndrome, Netherton syndrome, uncombable hair syndrome, trichothiodystrophy, and loose anagen hair syndrome. Acquired hair abnormalities can be associated with grooming or use of various hair products. There are many patterns of hair abnormalities that can be readily identified under a light microscope. We performed a retrospective review of 129 hair mount samples from 119 patients submitted to the pathology department for microscopic examination over a 10-year span (from January 2002 to December 2011). Of the 119 patients, 63 (53%) had morphologic changes in the hair samples. Thirty-seven patients (31%) showed morphologic changes compatible with specific diagnoses of various genetic conditions, including 25 cases of loose anagen hair syndrome, 6 cases of uncombable hair syndrome, 2 cases of Netherton syndrome, 3 cases of Menkes syndrome, and 1 case of trichothiodystrophy. The other changes were considered nonspecific or nondiagnostic, with trichorrhexis nodosa in 13 patients, presence of loose anagen hairs in 12 patients, and pili torti in 1 patient. We describe the light microscopic patterns of hair abnormalities, clinical findings, and molecular defects related to those genetic conditions. Our study indicates that hair examination can be a 1st-line investigation on various pediatric conditions.
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PMID:Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period. 2425 87