Using sequences from exon 10 fused to a nongolgi reporter molecule, francis et al. Their patients were five boys, representing two generations of one family, all of whom exhibited severe and early. Females are carriers of menkes syndrome, and their sons who have the gene have the disease. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar kinky hair are the. Menkes kinky hair disease menkes kinky hair disease ahlgren, p vestermark, s. Localisationofthemenkeslocus menkesdisease wasrecognisedto segregate as an xlinked recessive trait when it was first described in 1962 by menkes et al. Menkes disease is an inherited disorder in which the body has a problem absorbing copper. Neuroimaging changes in menkes disease, part 1 american. The history of john hans menkes and kinky hair syndrome. In the first case which documents the sexlinked recessive inheritance, arteriographic studies have shown that the vascularization of the brain was severely impaired.
Menkes kinky hair syndrome medicosis perfectionalis. In 1962, menkes encountered a male infant who, while developmentally normal at birth, quickly developed floppy muscle tone, seizures, and coarse, brittle hair. Menkes disease md is a rare infantileonset neurodegenerative disorder caused by mutations in the xlinked atp7a gene. The neurologist who discovered maple syrup urine disease and xlinked kinky hair disease menkes disease, john menkes, m. Menkes kinky hair disease is a rare xlinked recessive disease nearly exclusively affecting males who present at 23 months of age due to abnormal functioning of copperdependent enzymes due to deficiency of copper. May 31, 2019 subclass of, hair disease, metal metabolism disorder.
Kinky hair disease khd was first described by menkes et al. Media in category menkes disease the following 8 files are in this category, out of 8 total. Jun 11, 2016 two cases of menkes disease belonging to different families are reported in order to illustrate different types of central nervous system involvement. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar kinky hair are the main manifestations. Md is inherited as an xlinked recessive trait, and as expected the vast majority of patients are males. The most promising therapy to date, very early subcutaneous copper injections, has normalized neurodevelopmental. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar kinky hair are the main. Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar kinky hair.
Female carriers are mosaics of wildtype and mutant cells due to the random x inactivation, and they are rarely affected. The characteristic clinical features are steely hair, profound retardation, spastic quadriparesis, seizures, and hypothermia. Symptoms of md usually appear within the first few months of life and include sparse, kinky hair. The mottled gene is the mouse homologue of the menkes disease gene. Clinical manifestations include failure to thrive, mental retardation, seizures, and characteristic hypopigmented kinky hair. Nov 04, 2009 menkes disease md is a lethal multisystemic disorder of copper metabolism. In the largest cohort of md patients reported so far which consists of 517 families we identified 9 neurologically affected.
Menkes, in rosenbergs molecular and genetic basis of neurological and psychiatric disease fifth edition, 2015. Here, we describe a completely workedup case of a 4monthold male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. This gene encodes a coppertransporting atpase, which has the dual role of atpdriven copper efflux from cells and the intracellular transport of copper to the copperrequiring enzymes. The characteristics facies, fair complexion, chubby cheeks, sparse twisted fuzzy depigmented hair are all present in our case. Google scholar levinson b, vulpe c, elder b, martin c, verley f, packman s, gitschier j.
Figure 1 characteristics of scalp hair in menkes disease hair is sparse, short, thin, fragile, and lightcolored, and has a steelwool appearance. Introduction menkes disease is an xlinked recessive disorder of copper transport, leading to dysfunction of copperdependent enzymes. Menkes disease md is an inherited condition that impacts the way the body processes copper levels in the body. Menkes disease is a rare multisystem xlinked disorder of copper metabolism. Spontaneous retroperitoneal hemorrhage in menkes disease. A ten minute documentary on menkes disease a rare fatal genetic disorder. Changes in the metaphyses of the long bones and tortuosity of cerebral arteries have been described.
Also known as kinky hair syndrome and copper transport disease. Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an xlinked recessive disorder that results in a derangement in copper handling. Menkes disease genetic and rare diseases information. Roberts from the departments of paediatrics and histopathology, united norwich hospitals, norwich wheeler, e. Figure 2 imaging a magnetic resonance angiography reveals highly tortuous arteries of the brain. Jun 28, 2019 pathogenic variants lead to severe copper deficiency. Request pdf on sep 1, 2012, sanjiv v choudhary and others published menkes kinky hair disease find, read and cite all the research you need on researchgate.
If the disorder is recognized early, injections of copper have been sometimes beneficial. Menkes kinky hair disease request pdf researchgate. Menkes kinky hair disease is a rare xlinked recessive disease nearly exclusively affecting males who present at 23 months of age due to abnormal functioning of copperdependent enzymes due to. Menkes disease results in developmental delay, seizures, hypotonia which is more in trunkal muscle and feeding difficulties. Feb 01, 2009 the neurologist who discovered maple syrup urine disease and xlinked kinky hair disease menkes disease, john menkes, m. Dermatologic manifestations of menkes kinky hair disease. Flared metaphyses of the ulna and radius in a 5monthold patient with classic menkes disease.
Menkes disease is characterized by dry skin and abnormal hair that is often brittle, tangled, sparse, steely or kinky and is often white, ivory, or grey in color. Menkes disease genetic and rare diseases information center. This report notes important changes in the eyes which were found on histological examination. The affected infant may also appear to have a yellow appearance jaundice which is caused by excessive bilirubin in the blood hyperbilirubinemia. Diverticula of the bladder in a boy with menkes disease. Neuroimaging in menkes disease ahmed mi, hussain n j. Md primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. Ppt menkes disease powerpoint presentation free to. Menkes disease md is a rare infantile onset neurodegenerative disorder due to mutations in the x linked atp7a gene. Clinical expression of menkes disease in females with. The abnormality is a defect of transmembrane transport of copper resulting in increased copper deposition in intestine and pancreas, with copper deficiency in. An early researcher of maple syrup urine disease as an intern at boston childrens. B t1 and c t2 mri sequences demonstrate generalized neuroatrophy and delayed myelination.
It is important to see how current understanding of different aspects of this disorder has been shaped by developments in the fields of biochemistry, molecular genetics. Menkes disease md is an xlinked multisystemic lethal disorder of copper metabolism. Three unrelated cases of menkes s syndrome are described. Menkes and colleagues described menkes disease in 1962 that reported five male infants in a family affected with a distinctive syndrome of neurologic degeneration, peculiar hair, and failure to thrive. Menkes kinky hair disease is a rare xlinked recessive disorder of copper metabolism. Menkes kinky hair syndrome is an xlinked recessive multisystemic lethal disorder of copper metabolism. Aka kinky hair syndrome, it is the impaired ability to metabolize copper.
Vestermark neuroradiological and pediatric departments, glostrup hospital, faculty of medicine university of copenhagen glostrup denmark summary four new cases of menkes kinky hair disease are reported with special attention to the vascular and particularly the. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. Menkes disease or kinky hair syndrome is a multisystemic disorder with an x linked inheritance, and mutation of the gene atp7a located on xq. Kinky hair disease proved a designation useful in detection of new cases, since the hair change is an easily remembered feature by which physicians can be alerted to the condition obrien, 1968. The disease affects development, both mental and physical. Menkes disease md, also known as menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. Natural cure for menkes disease and alternative treatments. Menkes chief contribution to medicine was his discovery of kinky hair syndrome or menkes disease. The cdna has been recently sequenced and is known to code for a protein of.
In menkes kinky hair disease, intestinal copper uptake is normal, but copper transport to other tissues is affected. Their patients were five boys, representing two generations of one family, all of whom exhibited. Menkes disease md is an inherited condition that impacts the way the body. In the 52 years since the original description of menkes kinky hair disease mkhd, advances in understanding the clinical, biochemical, and molecular aspects of this rare disorder of copper metabolism have outstripped progress in the design of effective therapies. Menkes kinky hair disease, neuroradiology 00283940 10. It results in low copper levels and subsequently, deficiency in copperdependent mitochondrial enzymes. Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. A number of other eponyms, such as menkes steely hair disease, menkes kinky hair disease, trichopoliodystrophy, and menkes syndrome, have been used in scientific nomenclature. Three unrelated cases of menkess syndrome are described. These cuproenzymes catalyze a diverse range of essential biochemical reactions.
Menkes disease md is a rare xlinked recessive fatal neurodegenerative disorder caused by mutations in the atp7a gene, and most patients are males. Like all xlinked recessive conditions, menkes disease is. Menkes disease an xlinked recessive condition omim. Menkes kinky hair disease is an xlinked recessive multisystem disorder caused by disturbances of copper metabolism due to mutation of patpase7 gene. The defect makes it hard for the body to properly distribute transport copper throughout the body. The disease is caused by an underlying defect of copper metabolism. The estimated prevalence of the disease is 1 in 100,0001 in 250,000. Menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport. It is characterized by brittle, tangled, sparse, steely or kinky hairs that are often white, ivory, or gray in color with easy pluckability. Additional signs and symptoms include weak muscle tone hypotonia, sagging facial features, seizures, developmental.
Menkes disease md, also known as kinky hair disease, is a multifocal, degenerative disease of gray matter first described in 1962 by menkes et al. Features include unusual kinky hair, growth retardation, bony abnormalities, profound neurodevelopmental delays, and seizures. Menkes syndrome is a disorder that affects copper levels in the body. Menkes disease is caused by a defect in the atp7a gene. Menkes disease definition menkes disease is a disorder affecting the bodys copper levels and characterized by sparse and coarse hair, growth and development problems, as well as deterioration of the nervous system. Thoughmostpatients 9095% have a severe clinical course table 1, various forms ofthe.
Patients usually exhibit a severe clinical course, with death in early childhood, but variable forms exist and occipital horn syndrome ohs is the mildest form. Characteristic findings include kinky hair, growth failure, and nervous system deterioration. A case report international journal of urology, vol. Menkes kinky hair disease trichopoliodystrophy, steelyhair disease is an xlinked neurodegenerative disorder that occurs predominantly in males.
Postmortem examination revealed lesions of the elastic membranes of large and. Mar 30, 2020 menkes disease is a disorder that affects copper levels in the body. Menkes steely hair syndrome definition of menkes steely. Menkes kinkyhair disease trichopoliodystrophy, steelyhair disease is an xlinked neurodegenerative disorder that occurs predominantly in males.
Cell culture studies in phenotypically normal female menkes carriers indicated that the menkes disease gene mnk was subject to random xinactivation, also supporting an x linked. His hair is depigmented and lusterless with pili torti and the skin is pale with eczema. Menkes disease md is a lethal multisystemic disorder of copper metabolism. The menkes disease is also called kinky or steely hair disease. Menkes kinky hair disease is an xlinked recessive trait caused by mutations in the atp7a gene leading to disturbed copper metabolism contributing to low serum copper and ceruplasmin. Menkes kinky hair disease choudhary sv, gadegone rw, koley. Menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport protein atp7a, leading to copper deficiency. Menkes kinky hair disease choudhary sv, gadegone rw, koley s. Horizontal eyebrows, pudgy cheeks, and cupids bow of the upper lip from the classical facies. The clinical phenotype is marked by fine silvery wiry hair, doughy skin, connective tissue disturbances, and progressive neurologic deterioration. Mr demonstrated characteristic cerebrovascular tortuousity and thus may be a valuable aid in diagnosis and followup. Menkes kinky hair disease associated with a large bladder diverticulum.
Some additional signs and symptoms may include weak muscle tone hypotonia, sagging facial features, seizures, developmental delay, and intellectual disability. Sir, menkes kinky hair disease is a rare xlinked recessive disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with. Menkes described a previously unrecognized entity of cerebellar and focal cerebral degeneration, with kinky hair, failure to thrive and early death occurring in boys only. Jun 30, 2019 subclass of, hair disease, metal metabolism disorder. A sexlinked metabolic defect in copper metabolism, characterized by sparse, brittle, twisted hair, failure to thrive, lack of muscle tone, seizures, and progressive deterioration of the brain. The gene for khd is about 200 kb in size and is located on the long arm of x chromosome xql3. Subclass of, hair disease, metal metabolism disorder. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory.
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