MENKES\' SYNDROME: REPORT OF A CASE
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Abstract:
An 8 month old boy is presented with clinical and laboratory features of Menkes' kinky hair syndrome. A brief discussion ensues.
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Menkes kinky hair disease (Menkes syndrome). A case report.
Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...
full textmenkes' syndrome: report of a case
an 8 month old boy is presented with clinical and laboratory features of menkes' kinky hair syndrome. a brief discussion ensues.
full textMenkes' disease: case report.
Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy ...
full textA Case Report of a Syndrome
Un cas de Syndrome de Rubinst.ein-Taybi Un enfant age de 13 mois s'adres'se pour des troubles digestifs et respiratoires. Il presenfait un elargissements de Ia phalange -terminale du ponce et du gros orteil, la voute palatine ogivale, et -une dysmorphie faciale caracteristique: nez aquilin obliquite anti -maJ ourlees et implantee-s basses. Le retard mental nez avcc un retard statural moins ...
full textMenkes kinky hair disease: A case report
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. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental ...
full textNicolau syndrome: report of a case
Nicolausyndrome or embolia cutis medicamentosa is a rare complication of intramuscular injection of some drugs. This syndrome has been reported after injection of NSAIDS, corticosteroids and antibiotics.Here we report a 16-year-old boy who developed this syndrome after intramuscular injection of benzathine penicillin.
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Journal title
volume 11 issue 3
pages 245- 248
publication date 1997-11
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