Atypical MRI Findings in Cerebral Adrenoleukodystrophy: a Case Report (original) (raw)
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Adrenoleukodystrophy: CT and MRI findings
Pediatric Radiology, 1995
A case of adrenoleukodystrophy (ALD) with CT and MRI findings is described. The CT scan showed low densities in the white matter of the parietal and occipital lobes. No calcifications were seen. Post-contrast CT showed an abnormal enhancement within the involved white matter. MRI showed changes of demyelination around the atria of the lateral ventricles bilaterally involving the posterior aspect of the cerebrum symmetrically. The posterior part of the posterior corpus callosum, splenium and pyramidal tracts also showed increased signal intensity. From a review of the literature, these findings are typical of the radiological changes seen in ALD. ALD can be diagnosed from typical history and biochemical changes as well as from CT and MRI findings. Adrenoleukodystrophy (ALD) is a sex-linked metabolic encephalopathy of childhood in which the basic defect is an impaired capacity to degrade very long chain fatty acids, caused by a peroxisomal defect in beta-oxidation. The fatty acids thus accumulate, decreasing the stability of the myelin membrane and leading to the demyelination of the central nervous system. The adrenal cortex, testes, dermal and conjunctival nerve fascicles are also involved [1].
Adult Onset X-Linked Adrenoleukodystrophy Frontal Variant – A Case Report
Journal of Pharmacy and Pharmacology, 2022
Objectives: Adrenoleukodystrophy is the most common leukodystrophy in neurological practice. The clinical manifestations are secondary to an inborn error of metabolism due to a mutation on ABDCD1 gene that causes accumulation of very long-chain fatty acids on adrenal and central nervous system. Methods: We describe a case of a 28 years old man with behavior and speech alterations, adrenal insufficiency and abnormal frontal white matter signs compatible with a frontal variant of adrenoleukodystrophy, later confirmed by biochemical and genetic testing. Key findings: We found a rare variant of a rare disease, manifesting at an atypical age with unusual clinical phenotype. Conclusion: The inborn errors of metabolism clinical phenotype are highly variable and unpredictable by the genotype alone. Clinicians should pay attention to atypical clinical manifestations of these diseases.
Following the Natural History Of A Probable Adrenoleukodystrophy Case And Literature Review
INTERNATIONAL JOURNAL OF NEUROLOGY AND BRAIN DISORDERS, 2015
Leukodystrophies compass a wide range of genetic disorders that compromise the white matter. Some of them exhibit different phenotypes with late and slow onset. The present work reports an unusual case of probable X-Linked Adrenoleukodystrophy that could be classified in adrenomyeloneupathy, but there were no signs of adrenal insufficiency and the cognitive decline developed fast. MRI evinced classical symmetrical parieto-occipital pattern of lesion, although dosage of very long chain fatty acids was normal.
Cerebral X-linked adrenoleukodystrophy: follow-up with magnetic resonance imaging
Arquivos de Neuro-Psiquiatria, 2006
OBJECTIVE: To report a case of childhood cerebral X-linked adrenoleukodystrophy (X-ADL), emphasizing the magnetic resonance imaging (MRI) findings at initial evaluation and at the follow-up. CASE REPORT: Five year-old boy, who was asymptomatic, presented with diagnosis of X-ADL for MRI evaluation. The initial brain MRI showed a focal area of enhancement at the splenium of the corpus calosum. One year later, the follow-up MRI showed a progression of the corpus calosus lesion, as well as other lesions in the parietal and occipital lobes. CONCLUSION: The brain MRI follow-up of patients with X-ADL is important to show the progression of the lesions.
Pediatric Neurology, 1996
We report three unrelated boys with X-linked adrenoleukodystrophy with onset of typical neurological symptoms of cerebral adrenoleukodystrophy between the age of 7 and 11 years. In contrast to the expected rapid progression, these patients showed an apparent arrest of initial neurological deterioration for subsequent periods of 5-12 years. Repeated neuroimaging revealed no progression of demyelination. Despite regional variability of demyelination, proton magnetic resonance spectroscopy revealed a specific metabolic pattern in all patients, with only moderate reduction of N-acetylaspartate, normal or reduced choline-containing compounds, normal or enhanced myo-inositol and no detectable lactate, which differs from findings in progressive cerebral adrenoleukodystrophy which usually exhibits a severe reduction of N-acetylaspartate and marked increases of choline-containing compounds, myo-inositol, and lactate. The ability to identify this newly described subgroup of patients with cerebral adrenoleukodystrophy is important for medical advice and planning of therapy. a b c Figure
Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings
Dementia & Neuropsychologia, 2012
A 35-year-old, previously healthy man presented psychiatric symptoms lasting four years, receiving treatment with neuroleptics. One year later he evolved with gait disequilibrium. After a further six months, cognitive symptoms were characterized with rapid evolution to a profound demented state. MRI showed signal changes in cerebral white matter and very long-chain fatty acids were detected in blood.
Adrenoleukodystrophy: a scoring method for brain MR observations
Ajnr American Journal of Neuroradiology, 1994
PURPOSE: To develop a scoring method for brain observations in patients with X-linked adrenoleukodystrophy. METHODS: One hundred seventy-five brain MR scans in 83 male subj ects less than 20 years of age with proved bioc hemica l defects were reviewed. A severity score (0 to 34) , based on a point system derived from loca ti on and extent of disease and th e presence of focal and/ or global atrophy , was calculated for each exam. RESULTS: Fifty-five of th e 83 patients showed MR findings consistent with adrenoleukodystrophy. Two major patterns were observed . A posterior pattern (m ea n score, 9; range , 0.5 to 25) was present in 80% of patients , and an anterior pattern (mean score , 1 0; range , 2 to 18) was present in 15% of patients. Serial MR imaging , positive for adrenoleukodystrophy in 34 patients (mean foll ow-up, 23 months; range, 2 months to 6 y ears 11 m onths ), showed prog ressive disease in 52%, progressive disease with subsequent stabili zation in 18%, stable disease in 24%, and minimal improvement in 6%. CONCLUSION : Th e ad renoleukodystrophy MR severity scoring m ethod is a m easure that ca n be used with standard MR images. When used in conjunction with clinical parameters , this scoring method may help define better the natural history of adrenoleukody stro phy and m onitor response to developing therapies .
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.
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.
Brain, 1997
We studied 19 women, heterozygous for adrenoleukodystrophy (ALD) in whom the carrier status was demonstrated by abnormally high plasma levels of very-long-chain fatty acids. Clinical examination revealed slight neurological signs in two patients. Clear-cut neurological deficits in three, and it was fully normal in the remaining 14. All subjects underwent motor evoked potential (MEP) and somatosensory evoked potential (SEP) studies. Seventeen out of 19 subjects underwent brain MRI which demonstrated various degrees of abnormality in one asymptomatic and five symptomatic subjects; SEPs and MEPs revealed CNS involvement in 12 and 8 out of the 19 subjects, respectively. Symptomatic patients showed severe neurophysiological abnormalities, whereas milder but unequivocal EP abnormalities were found in seven of the 14 patients with normal clinical examination. Our data thus suggest CNS involvement in the majority of the ALD carriers, evident also in preclinical stages and progressively severe. The possibility of assessing different degrees of neurological involvement could be relevant for therapeutical purposes. Moreover, neurophysiological studies could provide the only objective marker of functional nervous system involvement, e.g. in order to monitor the efficacy of treatment, and in clinically and radiologically silent cases.