Aka kinky hair syndrome, it is the impaired ability to metabolize copper. A ten minute documentary on menkes disease a rare fatal genetic disorder. Mr demonstrated characteristic cerebrovascular tortuousity and thus may be a valuable aid in diagnosis and followup. The defect in copper absorption in this disease must lie in the process of intracellular handling or of transport across the serosal cell membrane. Kinky hair disease khd was first described by menkes et al. The evolution of neurophysiological features including the electroencephalogram eeg, electroretinogram erg, and visual evoked potentials vep is reported in eight cases of menkes kinky hair disease. Menkes, in rosenbergs molecular and genetic basis of neurological and psychiatric disease fifth edition, 2015. The history of john hans menkes and kinky hair syndrome. All authors read and approved the final manuscript. Menkes disease md is a usually severe multisystemic disorder of copper metabolism. Some of the commonly encountered symptoms of menkes disease include.
The documents contained in this web site are presented for information purposes only. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar kinky hair are the main manifestations. The cdna has been recently sequenced and is known to code for a protein of. Clinical expression of menkes disease in females with. Symptoms of md usually appear within the first few months of life and include sparse, kinky hair. Recently it has been known that this disease is also characterized by multiple. In 1962, menkes encountered a male infant who, while developmentally normal at birth, quickly developed floppy muscle tone, seizures, and coarse, brittle hair. Two cases of menkes syndrome kinky hair disease were studied by serial radiologic examination of the extremities and by selected studies of the central nervous system. In the largest cohort of md patients reported so far which consists of 517 families we identified 9 neurologically affected. Full text pdf 4498k abstracts references9 menkes kinky hair disease is a poor prognostic congenital disease with xlinked recessive inheritance. An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age.
Get a printable copy pdf file of the complete article 2. Neuropathological study on cerebellum of macular mutant. Menkes disease md is a lethal multisystemic disorder of copper metabolism. In menkes kinky hair disease, intestinal copper uptake is normal, but copper transport to other tissues is affected. A case report international journal of urology, vol. This report notes important changes in the eyes which were found on histological examination. Characteristic findings include kinky hair, growth failure, and nervous system deterioration. Pdf correction of cerebrospinal fluid copper in menkes. 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 disease is a rare xlinked recessive pediatric disease caused by gene mutations of copper transporter atp7a, which affects approximately one in 100,000 newborns per year. It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Menkes disease is a rare multisystem xlinked disorder of copper metabolism.
The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. All eegs were severely abnormal, with some characteristic features seen from 35 months of age, after the onset of clinical symptomatology. Fibroblastic cells cultured from the skin of patients and of heterozygous females show intense metachromasia in. The gene for khd is about 200 kb in size and is located on the long arm of x chromosome xql3.
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. Neuroimaging changes in menkes disease, part 1 american. Female carriers are mosaics of wildtype and mutant cells due to the random x inactivation, and they are rarely affected. Menkes kinky hair disease menkes kinky hair disease ahlgren, p vestermark, s. Md primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time.
Biochemically, menkes patients have low levels of copper in their blood and brain, as well as abnormal levels of certain neurochemicals. Menkes kinky hair disease associated with a large bladder diverticulum. Menkes disease is a rare neurodegenerative metabolic disease with a reported incidence of 1 per 300 000 live births. Menkes syndrome is a disorder that affects copper levels in the body.
The copper content in the brain decreased in comparison with that in the normal littermate, although it was more than that in the hemizygote. Prenatal and postnatal diagnosis of menkes disease, an inherited. Family raises awareness after son diagnosed with rare. The findings of flared and fragmented metaphyses as signs of trauma and evidence of brain damage are similar to the findings in the infant abuse syndrome. Menkes disease, kinky hair, ceruloplasmin, neurodegenerative, copper homeostasis. Over 10 million scientific documents at your fingertips. Alopecia universalis can occur at any age, and is currently believed to be an autoimmune disorder, in which a persons immune system attacks. It is the most severe form of alopecia areata causes. 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 chief contribution to medicine was his discovery of kinky hair syndrome or menkes disease. Like all xlinked recessive conditions, menkes disease is more common in males than in females. In menkes kinky hair disease, intestinal copper uptake is normal, but copper transport to. Menkes kinky hair disease is a rare xlinked recessive disorder of copper metabolism. The hemizygote of the macular mutant mouse is clinically, biochemically and neuropathologically similar to a patient with menkes kinky hair disease.
Disorders of copper homeostasis are currently recognized across. This disease is clinically characterized by seizures, friable hair, growth failure, mental retardation and others. Seizures floppy muscle tone difficulty in feeding subnormal body temperature chubby and rosy red cheeks tangled, coarse, sparse and colorless kinky hair which can be easily broken developmental delays flattened nasal bridge lack of expressions on face sagging. Here, we describe a completely workedup case of a 4monthold male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. Alopecia universalis au, also known as alopecia areata universalis, is a medical condition involving the loss of all body hair, including eyebrows, eyelashes, chest hair, armpit hair and pubic hair. Menkes disease also called the kinky hair disease or menkes kinky hair syndrome is a disorder that affects copper levels in the body. Menkes kinky hair disease choudhary sv, gadegone rw, koley. Menkes, also known as menkes kinky hair disease, often causes hypothermia and kinky hair. This website uses cookies to ensure you get the best experience on our website. Gnidovec straiar menkes disease md is a rare genetic neurodegenerative disorder. The patient presents with history of neuroregression with characteristic kinky hair. Menkes kinky hair disease, neuroradiology 00283940 10.
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. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar kinky hair are the. It occurs due to mutations in atp7a gene located on xchromosome leading to deficiency of several coppercontaining enzymes. Characteristic findings include kinky hair, growth failure, and nervous system. Duodenal mucosa obtained from two patients with menkes syndrome contained abnormally large amounts of copper. Menkes disease md is an inherited condition that impacts the way the body processes copper levels in the body. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. Onset of menkes syndrome typically begins during infancy. Additional signs and symptoms include weak muscle tone hypotonia, sagging facial features, seizures, developmental. Menkes disease md is a rare xlinked recessive fatal neurodegenerative disorder caused by mutations in the atp7a gene, and most patients are males. 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. The heterozygote of this mutant mouse was biochemically and neuropathologically examined. 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.
Correction of cerebrospinal fluid copper in menkes kinky hair disease. Abstract menkes disease is a rare xlinked disorder related to a defect in the copper metabolism. Menkes disease md is an inherited condition that impacts the way the body. Menkes disease mimicking nonaccidental injury article pdf available in archives of disease in childhood 9111. Case report of an uncommon presentation with white matter lesions. It is characterized by brittle, tangled, sparse, steely or kinky hairs that are often white, ivory, or gray in color with easy pluckability. Sir, menkes kinky hair disease is a rare xlinked recessive disorder of copper metabolism. Menkes disease results in developmental delay, seizures, hypotonia which is more in trunkal muscle and feeding difficulties.
The characteristics facies, fair complexion, chubby cheeks, sparse twisted fuzzy depigmented hair are all present in our case. Menkes disease genetic and rare diseases information. What links here related changes upload file special pages permanent. Changes in the metaphyses of the long bones and tortuosity of cerebral arteries have been described. 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.
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