Adrenoleukodystrophy: CT and MRI findings (original) (raw)
Related papers
PubMed, 2006
Clinical, neurophysiological, neuroimaging and biochemical studies were performed in five boys with childhood and adolescent form of cerebral X-ALD, which is a very rare disease in developmental age. In all patients, rapidly progressive spasticity, ataxia and mental deterioration were found. Seizures occurred in four of them. Additionally, visual and hearing impairment were observed in four and three patients respectively. Adrenal insufficiency was also diagnosed in four cases. MR revealed extensive demyelination located mainly symmetrically in the parieto-occipital areas, in one patient in whom asymmetrical lesions in that region were found. All patients had abnormal visual, brainstem and somatosensory evoked potentials recording, reflecting the central demyelination occurring in X-ALD. The clinical diagnosis in every case was confirmed by the significantly elevated concentration of very long chain fatty acids (VLCFA) measured in plasma in comparison to normal values.
Srpski arhiv za celokupno lekarstvo, 2017
Introduction. Adrenoleukodystrophy (ALD) is a rare genetic disease, caused by mutations in ABCD1 gene located on the X chromosome (X-ALD), underdiagnosed worldwide. Case Outline. We present a clinical case of a six-year-old boy with childhood cerebral X-ALD. Magnetic resonance imaging of the patient?s brain showed bilateral lesions similar to ALD in parietal-occipital lobes of the brain. Plasma very long chain fatty acids determination test showed an elevated level of C26 and C26/C22 ratio which confirmed the diagnosis of X-ALD. Conclusion. The key point of this clinical case report is to draw attention of physicians to the earliest possible recognition of X-ALD patterns, because an effective treatment can only be established for earlystage cerebral ALD.
Adrenoleukodystrophy in a mother and son
Journal of Neurology, Neurosurgery & Psychiatry, 1987
A 6 year old boy died from a degenerative brain disease which was clinically and pathologically typical of adrenoleukodystrophy. Shortly before his disease became manifest his 28 year old mother had presented with similar symptoms, and subsequently died. Her brain showed almost identical features including the presence of pathognomonic ultrastructural inclusions. The accumulation of very long chain fatty acids in cerebral white matter as well as high hexacosanoic to docosanoic acid (C26:22) ratios, substantiated the diagnosis in both cases. This is one of the few documented cases of adrenoleukodystrophy in an adult female, and is almost certainly an example of clinical manifestation of this X-linked inherited disease in a carrier.
Adrenoleucodystrophy: A Rare Case Report
Scholars Journal of Medical Case Reports
The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28 leading to accumulation of very long chain fatty acids (VLCFA), it is a genetic disorder with diverse clinical phenotypes. Of these phenotypes, the cerebral form usually manifests during early childhood with rapid cognitive and neurological deterioration and is accompanied by extensive white matter involvement. Here we report a case of 4-year-old child with a history of death in the sibling with the same symptomatology.
Diagnostic Approach in X-Linked Adrenoleukodystrophy in the Pediatric Patient. A Case Report
BJSTR, 2021
Background: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by the accumulation of long chain fatty acids (VLCFA) due to mutations in the ABCD1 gene. Case: A 7-year-old boy who started 6 months ago with asthenia, adynamia, loss of motor skills and decreased school performance. Physical examination showed hyperpigmented areas in folds, the rest without alterations. Adrenal function was assessed, finding elevated ACTH (adrenocorticotropic hormone), cortisol was recorded in normal parameters, due to this, hormonal replacement was started. He presented an episode of adrenal crisis secondary to community-acquired pneumonia, required hospitalization and during this hospitalization a brain MRI was performed, which found a brain pattern compatible with infantile cerebral adrenoleukodystrophy, so he was sent to the Genetics Department for suspected X-ALD with follow-up in pediatric endocrinology. Conclusion: It highlights the importance of making a diagnosis when clinical suspicion persists, recognizing patterns of the disease with mild to severe manifestations, depending on the patient, which are used to evaluate the prognosis of the disease, as well as the importance of VLCFA analysis to promote early diagnosis of ALD.
Pearls Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy
Defects in peroxisomal transport interferes with β-oxidation of very long chain fatty acids (VLCFAs). Subsequent VLCFA accumulation triggers a cascade of events that eventually leads to adrenoleukodystrophy (ALD). c Attention-deficit/hyperactivity disorder (ADHD) can be one of the early manifestations of childhood cerebral ALD (CCALD). c Patients with adrenomyeloneuropathy (AMN) may have signs of occult self-halted CCALD on MRI, which can help point to a diagnosis of AMN.
X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms
PubMed, 2015
X-linked adrenoleukodystrophy (ALD) leads to demyelination of the nervous system, adrenal insufficiency and accumulation of long-chain fatty acids. Most young patients with X-linked ALD develop seizures and progressive neurologic deficits, and die within the first two decades of life. We present the case of a 6-year-old with childhood-onset ALD, first presenting with psychiatric symptoms and progressive gait difficulties, slurred speech and cognitive impairment. Genetic testing was performed and a p.R401Q (c.1202G>A) mutation detected in the ABCD1 gene. ALD should be considered in the differential diagnosis of patients presenting with behavior changes and white matter disease in neuroimaging.
An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
Journal of Genetic Medicine, 2013
Genetic Medicine of XL-ALD are variable, including childhood cerebral ALD, adolescent and adult cerebral ALD, adrenomyeloneuropathy (AMN), and Addison's disease only. In addition, some patients are identified even in their presymptomatic periods. 1-3) In this report, we described a Korean boy with XL-ALD who was incidentally found after a car accident at his pubertal age, but manifested characteristic brain finding as well as adrenal insufficiency.