Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder

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 continua.Discussion. Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures.Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.

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Menkes' disease: case report

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2007000100032 ◽

2007 ◽

Vol 65 (1) ◽

pp. 157-160 ◽

Cited By ~ 15

Author(s):

Fabio Agertt ◽

Ana C.S. Crippa ◽

Paulo J. Lorenzoni ◽

Rosana H. Scola ◽

Isac Bruck ◽

...

Keyword(s):

Muscle Biopsy ◽

Background Activity ◽

Neurodegenerative Disorder ◽

Epileptiform Activity ◽

Menkes Disease ◽

Serum Levels ◽

Visual Contact ◽

Disease Case ◽

Fiber Atrophy

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 and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes’ disease are discussed.

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Menkes Disease- A Rare Neurodegenerative Disorder

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v35i2.11966 ◽

2016 ◽

Vol 35 (2) ◽

pp. 177-180

Author(s):

Richa Choudhary ◽

Anita Choudhary ◽

S Sitaraman

Keyword(s):

White Matter Hyperintensities ◽

Refractory Epilepsy ◽

Neurodegenerative Disorder ◽

Menkes Disease ◽

Serum Copper ◽

Progressive Neurodegeneration ◽

Refractory Seizures ◽

Sparse Hair ◽

Pili Torti ◽

Low Serum

Menkes Disease is a rare neurological disorder of impaired copper transport, characterized by progressive neurodegeneration, refractory epilepsy and characteristic hair abnormalities. Here, we report a 5 month old child with developmental delay, refractory seizures, and hypopigmented short, sparse hair with microscopic pili torti; low serum copper and ceruloplasmin and neuroimaging revealing white matter hyperintensities and tortuous vessels.J Nepal Paediatr Soc 2015;35(2):177-180

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Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein

AJP Gastrointestinal and Liver Physiology ◽

10.1152/ajpgi.00339.2012 ◽

2012 ◽

Vol 303 (11) ◽

pp. G1236-G1244 ◽

Cited By ~ 19

Author(s):

Yanfang Wang ◽

Sha Zhu ◽

Victoria Hodgkinson ◽

Joseph R. Prohaska ◽

Gary A. Weisman ◽

...

Keyword(s):

Neurodegenerative Disorder ◽

Menkes Disease ◽

Copper Accumulation ◽

Loss Of Function ◽

Gene Encoding ◽

Dietary Copper ◽

Postnatal Mortality ◽

Disease Protein ◽

Lactating Females ◽

Specific Deletion

The essential requirement for copper in early development is dramatically illustrated by Menkes disease, a fatal neurodegenerative disorder of early childhood caused by loss-of-function mutations in the gene encoding the copper transporting ATPase ATP7A. In this study, we generated mice with enterocyte-specific knockout of the murine ATP7A gene ( Atp7a) to test its importance in dietary copper acquisition. Although mice lacking Atp7a protein within intestinal enterocytes appeared normal at birth, they exhibited profound growth impairment and neurological deterioration as a consequence of copper deficiency, resulting in excessive mortality prior to weaning. Copper supplementation of lactating females or parenteral copper injection of the affected offspring markedly attenuated this rapid demise. Enterocyte-specific deletion of Atp7a in rescued pregnant females did not restrict embryogenesis; however, copper accumulation in the late-term fetus was severely reduced, resulting in early postnatal mortality. Taken together, these data demonstrate unique and specific requirements for enterocyte Atp7a in neonatal and maternofetal copper acquisition that are dependent on dietary copper availability, thus providing new insights into the mechanisms of gene-nutrient interaction essential for early human development.

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Menkes disease: MRI appearance of a rare neurodegenerative disorder

Journal of Pediatric Neurology ◽

10.3233/jpn-2009-0296 ◽

2015 ◽

Vol 07 (03) ◽

pp. 317-320

Author(s):

Regina Doelken ◽

Marc Doelken ◽

Arnd Doerfler ◽

Janine Rennert

Keyword(s):

Neurodegenerative Disorder ◽

Menkes Disease

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Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease

Skin Appendage Disorders ◽

10.1159/000518368 ◽

2021 ◽

pp. 1-4

Author(s):

Marimar Sáez-de-Ocariz ◽

Ana Sylvia Aguilar-Sarmiento ◽

Maria Adelaida Garcés-Abad ◽

Paulina Vázquez-Arroyo ◽

Maria Teresa García-Romero ◽

...

Keyword(s):

Light Microscopy ◽

Neurodegenerative Disorder ◽

Menkes Disease ◽

Male Infant ◽

Hair Shaft ◽

First Year ◽

Copper Distribution ◽

Hispanic Male ◽

Muscle Hypotonia ◽

Pili Torti

Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the <i>ATP7A</i> gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypotonia associated with neurological damage and hair shaft dysplasia – particularly pili torti. Pili torti is usually very subtle in the first 3 months of life and gradually increases during the first year. Light microscopy examination in search for pili torti requires the observation of more than 50 hair shafts. In contrast, trichoscopy with a hand-held dermatoscope allows to easily identify the hair shaft defect. We report a case of a Hispanic male infant with MD in whom we show that trichoscopy is superior to hair light microscopy in revealing pili torti.

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Auditory Dysfunction in Alzheimer's Disease

Perspectives on Gerontology ◽

10.1044/gero15.1.4 ◽

2010 ◽

Vol 15 (1) ◽

pp. 4-11 ◽

Cited By ~ 1

Author(s):

Sridhar Krishnamurti

Keyword(s):

Alzheimer’S Disease ◽

Older Adults ◽

Alzheimer's Disease ◽

Health Care ◽

Care Setting ◽

Neurodegenerative Disorder ◽

Disease Process ◽

Clinical Protocols ◽

Speech Language Pathologist ◽

Auditory Dysfunction

Alzheimer's disease is neurodegenerative disorder which affects a growing number of older adults every year. With an understanding of auditory dysfunction in Alzheimer's disease, the speech-language pathologist working in the health care setting can provide better service to these individuals. The pathophysiology of the disease process in Alzheimer's disease increases the likelihood of specific types of auditory deficits as opposed to others. This article will discuss the auditory deficits in Alzheimer's disease, their implications, and the value of clinical protocols for individuals with this disease.

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