Basal ganglia lesions in the early stage of Menkes disease

Koprivšek, Katarina; Lučić, Miloš; Kozić, Duško; Djordjevic, Maja; Kravljanac, Ružica

doi:10.1007/s10545-010-9063-0

Cited by 3 publications

(2 citation statements)

References 2 publications

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“…The resulting cytotoxic edema due to intracellular copper-related energetic failure might eventually evolve into the cystic-necrotic changes observed at pathology. Regarding lesion timing, even though previous reports suggested a late involvement of the basal ganglia in MD, 9 we found deep gray matter signal abnormalities already in the first months of life. Actually, new focal lesions were never observed after 16 months of age, pointing to early damage of these highly metabolic regions.…”

Section: Basal Ganglia Abnormalitiescontrasting

confidence: 92%

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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Section: Basal Ganglia Abnormalitiescontrasting

confidence: 92%

Neuroimaging Changes in Menkes Disease, Part 2

Manara

Rocco

D'Agata

et al. 2017

AJNR Am J Neuroradiol

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“…Effectively, the reduction in frequency of seizures and the evolution into myoclonic jerks were accompanied by cerebral and cerebellar atrophy as the main magnetic resonance feature, which, together with abnormal vascular structures, probably lead to subdural effusion. 33,40,41 Magnetic resonance angiogram images showed tortuosity of intracranial and neck vessels, 42 may be attributed to abnormalities of internal elastic laminae. 43 About EEG changes and MRI correlations, the onset of focal seizures and status epilepticus might result from an initial vascular dysfunction, defect of energy production, and acute metabolic stress, which lead to an acute neuronal damage.…”

Section: Correlations With Neuroimaging Findingsmentioning

confidence: 99%

Epilepsy in Children With Menkes Disease

2014

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Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar "kinky hair." Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. Most patients develop seizures from 2 to 3 months of age, accompanied by a neurodevelopmental regression. The history of epilepsy is usually characterized by 3 stages: an early stage with focal clonic seizures and status epilepticus, an intermediate stage with infantile spasms, and a late stage with multifocal, myoclonic, and tonic seizures. At the onset, epilepsy can be controlled with anticonvulsant therapy, whereas with the progression of disease, it becomes extremely resistant to all antiepileptic drugs. In this article, we analyze clinical and electroencephalographic (EEG) characteristics of epilepsy in patients with this syndrome.

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