Results 21 to 30 of about 5,184,226 (184)
Menkes Disease with ‘Ragged Red’ Fibers
Pediatric Neurology Briefs, 1989 Subsarcolemmal aggregates of mitochondria (‘ragged red’ fibers) in skeletal muscle were found at autopsy in a 30-month-old male infant with Menkes kinky-hair disease reported from the New York Hospital-Cornell University Medical Center, New York.
J Gordon Millichap
doaj +2 more sources
Emergent embolization of a ruptured splenic artery aneurysm complicating Menkes disease [PDF]
Radiology Case Reports, 2018 We report a 7-year-old boy with Menkes disease complicated by rupture of a large splenic artery aneurysm. The aneurysm was successfully embolized with microcoils and n-butyl cyanoacrylate.
John F. Olivieri, BS +4 more
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Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant [PDF]
Scientific ReportsMenkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of ...
Ayumi Matsumoto +16 more
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Menkes' disease: case report Doença de Menkes: relato de caso [PDF]
Arquivos de Neuro-Psiquiatria, 2007 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.
Fabio Agertt +7 more
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Novel ATP7A gene mutation in a patient with Menkes disease
The Application of Clinical Genetics, 2018 Gabriela Caicedo-Herrera,1 Estephania Candelo,1 Juan Pinilla,2 Andrés Vidal,2 Santiago Cruz,3 Harry Mauricio Pachajoa1–4 1Health Sciences Faculty, Universidad Icesi, Cali, Colombia; 2Dermatology, Fundación Valle Del Lili, Cali ...
Caicedo-Herrera G +5 more
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Menkes Disease Presenting with Epilepsia Partialis Continua [PDF]
Case Reports in Neurological Medicine, 2014 Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis ...
Tamer Rizk +3 more
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European Journal of Human Genetics, 2009 Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males.
Tümer, Zeynep, Møller, Lisbeth B
+6 more sources
Neuroimaging Changes in Menkes Disease, Part 1. [PDF]
AJNR Am J Neuroradiol, 2017 Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory.
Manara R +16 more
europepmc +4 more sources