Neuroimaging Changes in Menkes Disease, Part 2

Manara, Renzo; Rocco, Maria Chiara; D'Agata, L.; Cusmai, Raffaella; Freri, Elena; Giordano, Lucio; Darra, Francesca; Procopio, Elena; Toldo, Irene; Peruzzi, Cinzia; Vittorini, Roberta; Spalice, Alberto; Fusco, Carlo; Nosadini, Margherita; Longo, Daniela; Sartori, Stefano

doi:10.3174/ajnr.a5192

Cited by 30 publications

(17 citation statements)

References 15 publications

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“…Other features include subdural effusion, hematoma and hygroma, leukoencephalopathy, basal ganglia signal changes, and intracranial vessel tortuosity, focal tumefactive white matter lesions on MRI are especially seen before ten months of age. Hyperintense drop-shaped lesions in centrum semiovale, with restricted diffusion, also have been reported (12) (13) .…”

Section: International Journal Of Medical and Biomedical Studies (Ijmbs)mentioning

confidence: 81%

A Menkes Disease Case With Multilabel Comorbidities

Alhjohani

2021

IJMBS

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We report our case of a 15 months old male child, a product of nonconsanguineous marriage presented with increased seizure frequency more than 4 times a day with fever and upper respiratory tract infection for 1 month. He diagnosed with Menkes disease and his oldest brother died at age of 5 year due to the same disease. Menkes disease is a rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and connective tissue anomalies. He had almost the typical clinical finding but also, he had other complications which are non commonly found in such cases. As the Menkes disease is incurable disease, early diagnosis and parental counseling is very important for the mother in order to prevent getting a child with same disease.

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Section: International Journal Of Medical and Biomedical Studies (Ijmbs)mentioning

confidence: 81%

A Menkes Disease Case With Multilabel Comorbidities

Alhjohani

2021

IJMBS

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“…S2I). Neurodegeneration and cerebral arterial tortuosity are phenotypes present in all patients affected by Menkes disease (Kaler, 2013; Manara et al, 2017a; Manara et al, 2017b). These bioinformatic results demonstrate that genealogical proteomics datasets contain sufficient information to predict clinical traits which are diagnostic of genetic diseases of copper metabolism.…”

Section: Resultsmentioning

confidence: 99%

Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees

et al. 2018

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Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare disorders with proteomes from their disease-free consanguineous relatives. We use triple-SILAC mass spectrometry to quantify proteomes from human pedigrees affected by mutations in ATP7A, which cause Menkes disease, a rare neurodegenerative and neurodevelopmental disorder stemming from systemic copper depletion. We identified 214 proteins whose expression was altered in ATP7A fibroblasts. Bioinformatic analysis of ATP7A-mutant proteomes identified known phenotypes and processes affected in rare genetic diseases causing copper dyshomeostasis, including altered mitochondrial function. We found connections between copper dyshomeostasis and the UCHL1/PARK5 pathway of Parkinson disease, which we validated with mitochondrial respiration and Drosophila genetics assays. We propose that our genealogical "omics" strategy can be broadly applied to identify mechanisms linking a genomic locus to its phenotypes.

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“…Diagnosis is hinged upon characteristic clinical features; lab findings of low serum copper and ceruloplasmin; EEG features of focal spikes with subsequent secondary generalization [17]; MRI brain evidence of vascular anomalies, myelination delays, and neurodegenerative changes [18][19][20]; as well as absolute confirmation via genetic analysis. Disease prognosis remains poor, with most children dying by 3 years of age after respiratory tract infections.…”

Section: Discussionmentioning

confidence: 99%

Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease

Pawar

Mir

2022

Dubai Med J

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A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility. Initial evaluation revealed significant low serum copper and ceruloplasmin, electrical status epilepticus on electroencephalography, and generalized subcortical white matter changes with diffuse tortuosity of intracranial vessels on MRI brain. In addition, a genetic study with whole-genome sequencing demonstrated a hemizygous pathogenic variant at c.2179G>A p(Gly727Arg) on ATP7A, thereby confirming the diagnosis of Menkes disease. Symptomatic treatment with antiepileptic medications was provided along with an urgent referral to an advanced center for multidisciplinary care and copper histidine replacement therapy.

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Neuroimaging Changes in Menkes Disease, Part 2

Cited by 30 publications

References 15 publications

A Menkes Disease Case With Multilabel Comorbidities

A Menkes Disease Case With Multilabel Comorbidities

Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees

Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease

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