Electro-clinical features and magnetic resonance imaging correlates in Menkes disease

Bindu, Parayil Sankaran; Taly, Arun B.; Kothari, Shawn; Christopher, Rita; Gayathri, Narayanappa; Sinha, Sanjib; Nagappa, Madhu; Bhatt, Maya Dattatraya; Bharath, Rose Dawn

doi:10.1016/j.braindev.2012.07.016

Cited by 19 publications

(14 citation statements)

References 31 publications

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“…19 "leukoencephalopathy," 20 and "transient edema of the temporal lobes." 21 All these lesions shared the following MR imaging features: The affected white matter presented striking T2-hyperintensity and increased ADC values consistent with vasogenic edema, the cortical ribbon was relatively spared, and the lesions had mild/moderate mass effect.…”

Section: Parenchymal Abnormalitiesmentioning

confidence: 99%

“…In the past, some authors 4,17,20,22 hypothesized for tumefactive lesions an ischemic pathogenesis that is not consistent with the currently available neuroradiologic findings because of the following: 1) Tumefactive lesions involve almost exclusively the white matter, sparing the contiguous cortex, while the latter is usually more vulnerable to ischemia; 2) DWI does not reveal cytotoxic edema, which, instead, characterizes ischemia; 3) tumefactive lesions do not respect vascular territories; and 4) tumefactive lesions seem to be reversible, while ischemic lesions are mostly irreversible and typically result in focal encephalomalacia.…”

Section: Parenchymal Abnormalitiesmentioning

confidence: 99%

“…17,18,20 A protracted epileptic activity might result in severe parenchymal edema, both vasogenic and cytotoxic. 17 Vasogenic edema primarily derives from the persistent and severe brain acidosis associated with status epilepticus, eventually leading to blood-brain barrier alteration, parenchymal swelling, and sulcal effacement, while cytotoxic edema is likely due to the excessive neuronal stimulation with alteration of cell membrane permeability and neuronal/glial swelling.…”

Section: Parenchymal Abnormalitiesmentioning

confidence: 99%

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Neuroimaging Changes in Menkes Disease, Part 1

Manara

D'Agata

Rocco

et al. 2017

AJNR Am J Neuroradiol

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SUMMARY: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. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease. ABBREVIATION: MD ϭ Menkes disease

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Section: Parenchymal Abnormalitiesmentioning

confidence: 99%

Section: Parenchymal Abnormalitiesmentioning

confidence: 99%

Section: Parenchymal Abnormalitiesmentioning

confidence: 99%

See 1 more Smart Citation

Neuroimaging Changes in Menkes Disease, Part 1

Manara

D'Agata

Rocco

et al. 2017

AJNR Am J Neuroradiol

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“…It has been rarely reported in India. [345678] We describe six cases of Menkes disease managed at our institute over a period of 3 years. We also emphasize Menkes disease as an important cause of refractory neonatal seizures.…”

Section: Introductionmentioning

confidence: 99%

Menkes disease – An important cause of early onset refractory seizures

et al. 2014

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Context:Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities.Aims:We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our institute.Setting/Design:The medical records of children diagnosed with Menkes disease admitted in the pediatric neurology ward or attending the special pediatric neurology clinic at a tertiary care and a referral hospital in North India, from January 2010 to December 2012, were retrospectively reviewed. The clinical data of each case was subsequently summarized and reported.Statistical analysis used:Descriptive statistics were used.Results:During the study period, 1174 children were seen. Out of these, 6 cases were diagnosed as Menkes disease on the basis of clinical phenotype, low serum copper and ceruloplasmin and supportive neuroimaging. All the children were males and had disease onset within 3 months of age, with 4 children presenting in the neonatal period. Global developmental delay and refractory seizures were the predominant clinical symptoms. Two children had symptomatic West syndrome. Other seizure semiologies included tonic-clonic (4), myoclonic (2) and tonic seizures (1). The electroencephalographic abnormalities included hypsarrythmia (2) and multifocal epileptiform discharges (3). The salient radiological features included white matter changes, temporal lobe abnormalities, global atrophy, subdural hygromas and tortuous cerebral blood vessels.Conclusions:Menkes disease should be suspected in a case of refractory early onset seizures especially in the presence of subtle clinical clues. The neuroimaging findings may further support the diagnosis.

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“…The neuroimaging in Menkes Disease typically reveals global atrophy, subdural hygromas, transient temporal lobe abnormali es, excessive tortuosity of cerebral arteries and white ma er changes 7,8 . The ul mate diagnos c proof of Menkes Disease is the demonstra on of the molecular defect in ATP7A.…”

mentioning

confidence: 99%

Menkes Disease- A Rare Neurodegenerative Disorder

Choudhary

Sitaraman

2016

J. Nepal Paedtr. Soc.

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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.

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Electro-clinical features and magnetic resonance imaging correlates in Menkes disease

Cited by 19 publications

References 31 publications

Neuroimaging Changes in Menkes Disease, Part 1

Neuroimaging Changes in Menkes Disease, Part 1

Menkes disease – An important cause of early onset refractory seizures

Menkes Disease- A Rare Neurodegenerative Disorder

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