Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease

Jain, Puneet; Sharma, Suvasini; Sankhyan, Naveen; Sehgal, Rachna; Kumar, Atin; Kabra, Madhulika; Gulati, Sheffali

doi:10.1007/s12098-012-0812-y

Cited by 6 publications

(10 citation statements)

References 9 publications

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“…According to other authors, these lesions would result from ischemic phenomena caused by vascular anomalies. 1,4,7,8,19,22,24 The association between intracranial artery tortuosity and nontumefactive white matter lesions found in the present study seems to support a possible link between the processes leading to vascular wall abnormalities and white matter involvement. Nonetheless, because tortuosity changes do not seem to be associated with artery lumen changes, the ischemic hypothesis remains aleatory; moreover, focal white matter lesions do not cluster in specific vascular territories, and both the literature review and our sample analysis did not detect any lesion with DWI features of acute ischemia.…”

Section: Parenchymal Abnormalitiessupporting

confidence: 73%

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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 Abnormalitiessupporting

confidence: 73%

“…In previous publications, [17][18][19] tumefactive white matter lesions have been variably named "white matter cystic changes,"…”

Section: Parenchymal Abnormalitiesmentioning

confidence: 99%

Neuroimaging Changes in Menkes Disease, Part 1

Manara

D'Agata

Rocco

et al. 2017

AJNR Am J Neuroradiol

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“…The pathogenic mechanism leading to subdural collections is thought to depend on increased vessel wall fragility in MD, 19,20 with rupture and hemorrhagic extravasation eased by the presence of brain atrophy. 21 In our sample, all children with subdural collections had concomitant brain atrophy as reported in the literature, even though there was no significant association with both qualitative and quantitative evaluation of brain atrophy severity. In addition, subdural collections did not appear to be more frequent in older children with MD, when cerebral atrophy was more pronounced.…”

Section: Subdural Collectionssupporting

confidence: 40%

Neuroimaging Changes in Menkes Disease, Part 2

Manara

Rocco

D'Agata

et al. 2017

AJNR Am J Neuroradiol

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SUMMARY: This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease. ABBREVIATION: MD ϭ Menkes disease

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“…Patient 1 has been previously reported. [5] The summarized clinical data of these 6 children are detailed below.…”

Section: Resultsmentioning

confidence: 99%

“…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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Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease

Cited by 6 publications

References 9 publications

Neuroimaging Changes in Menkes Disease, Part 1

Neuroimaging Changes in Menkes Disease, Part 1

Neuroimaging Changes in Menkes Disease, Part 2

Menkes disease – An important cause of early onset refractory seizures

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