No abstract available.
Adrenoleukodystrophy*

No abstract available.
Adrenoleukodystrophy*

No abstract available.
Adrenoleukodystrophy* ; Anesthesia* ; Child* ; Humans

Adrenoleukodystrophy ; genetics ; therapy ; Humans ; Lovastatin ; pharmacology

Spastic paraparesis is caused by various etiologies such as autoimmune, infection, genetic and metabolic disorder. Adrenomyeloneuropathy (AMN) is very rare but one of important causes in spastic paraparesis. We experienced a patient presenting with adult-onset progressive spastic paraparesis, who was diagnosed as AMN with hemizygous c.431C>T (p.A144V), a novel mutation in exon1. The level of very long chain fatty acid should be included in diagnostic work-up for patients presenting with adult-onset progressive spastic paraparesis.
Adrenoleukodystrophy ; Humans ; Muscle Spasticity ; Paraparesis, Spastic

Background. X-linked adrenoleukodystrophy (X-ALD) is a progressive genetic disorder affecting the metabolism of very long chain fatty acids in the adrenal glands, spinal cord and white matter of the nervous system. It is an inherited metabolic storage disease whereby a defect in a specific enzyme results in the accumulation of very long-chain fatty acids (VLCFA) that are harmful to some cells and organs. VLCFA analysis for confirmation of X-linked adrenoleukodystrophy is one of the most requested tests among the send-out laboratory services of the Biochemical Genetics Laboratory at the Institute of Human Genetics. This paper aims to review the clinical characteristics and the results of the VLCFA analysis of the patients whose samples we received for testing.Methods. Overseas tests samples received by the Biochemical Genetics Laboratory for VLCFA from 2002-2016 were included. The details of the patients were collated in an overseas tests database and was the main source of the data for this study. The results of the VLCFA tests sent to the Kennedy Krieger Institute and The Children’s Hospital at Westmead were inputted into the said database. Descriptive statistics was utilized in order to examine the clinical and biochemical data of the patients.Results. The results showed that out of the 54 samples submitted to our laboratory, 19 (35%) of the samples received from male patients suspected to have X-ALD yielded positive results and another 10 (19%) females were found to be carriers. Visual defect followed by deteriorating mental status were the most frequent indications for VLCFA testing. Conclusion. Having a significant diagnostic yield of 54%, early diagnosis of X-linked adrenoleukodystrophy in our population is important so that proper management that could prevent the progression of the disease could be timely instituted.
Metabolism, Inborn Errors ; Peroxisomal Disorders ; Adrenoleukodystrophy

PURPOSE: The purpose of this study was to evaluate the usefulness of FLAIR(Fluid Attenuated InversionRecovery) MR imaging in childhood adrenoleukodystrophy by comparing with those of T2-weighted FSE imaging, and tocorrelate MRI finidings with clinical manifestations. MATERIALS AND METHODS: Axial FLAIR images(TR/TE/TI=10004/123/2200) and T2-weighted FSE images(TR/TE=4000/104) of brain in six male patients(age range :6-17 years, mean age : 10.2 years) with biochemically confirmed adrenoleukodystrophy were compared visually by tworadiologists for detection, conspicuity, and the extent of lesion. Quantitatively, we compared lesion/CSFcontrast, lesion/CSF contrast to noise ratio(CNR), lesion/white matter(WM) contrast, and lesion/WM CNR betweenFLAIR and T2 weighted image. We correlated MR findings with clinical manifestations of neurologic symptoms andevaluated whether MRI could detect white matter lesions in neurologically asymptomatic patients. RESULTS: Visualdetection of lesions was better with FLAIR images in 2 of the 6 cases and it was equal in the remainders. Visualconspicuity and detection of the extent of lesion were superior on FLAIR images than T2-weighted images in all 6cases. In the quantitative assessment of lesions, FLAIR was superior to T2-weighted image for lesion/CSF contrastand lesion/CSF CNR, but was inferior to T2 weighted image for lesion/WM contrast and lesion/WM CNR. In one case,FLAIR images distinguished the portion of encephalomalacic change from lesions. MR findings ofadrenoleukodystrophy were correlated with clinical manifestations in symptomatic 4 cases, and also detected whitematter lesions in asymptomatic 2 cases. CONCLUSION: MR imaging with FLAIR sequence provided images that wereequal or superior to T2-weighted images in the evaluation of childhood adrenoleukodystrophy. MRI findings werewell correlated with clinical manifestations and could detect white matter lesions in neurologically asymptomaticadrenoleukodystrophy patients.
Adrenoleukodystrophy* ; Brain ; Humans ; Magnetic Resonance Imaging* ; Male ; Neurologic Manifestations ; Noise

PURPOSE: The purpose of this study was to analyze the MR findings of childhood adrenoleukodystrophy regarding the extent of white matter degeneration and the pattern of enhancement, and to correlate these findings with clinical manifestations. MATERIALS AND METHODS: Six male patients (5-13 years old;mean age, 8.7 years) of biochemically confirmed adrenoleukodystrophy were included in this study. We evaluated the extent of white matter degeneration which was shown as high signal intensity on T2-weighted image, and the pattern of enhancement. Also we correlated the MR findings with clinical manifestations of symptoms and the results of evoked potential studies. RESULTS:The most common sites of predominant involvement were occipital deep white matter, optic radiation, and splenium of corpus callosum (n = 4, 66.7%). The other sites of predominant involvement were frontal deep white matter (n = 1, 16.7%) and pyramidal tract with cerebellum (n = 1, 16.7%). After contrast enhancement, there was peripheral rim enhancement surrounding the most severely affected areas in five cases (83. 3%). These findings were consistent with clinical symptoms in five cases (83.3%), but the results of evoked potential studies were consistent with clinical symptoms in only two cases (33.3%). CONCLUSION:In childhood adrenoleukodystrophy, MRI can clearly demonstrate specific tracts of involvement and these findings were well correlated with clinical manifestations.
Adrenoleukodystrophy* ; Cerebellum ; Corpus Callosum ; Evoked Potentials ; Humans ; Magnetic Resonance Imaging* ; Male ; Pyramidal Tracts

Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelmation of brain white matter and peripheral nerves. Authors experienced three cases of adrenoleukodystrophy in a 7 year old boy, a 17 and a 210 year old males that were diagnosed by increased plasma content of very long chain fatty acid(VLCFA). The clinical symptoms include seizure, visual impairment, and hemiparesis. Two cases showed typical radiological findings and sural nerve biopsy was performed in one.
Adrenal Insufficiency ; Adrenoleukodystrophy* ; Biopsy ; Brain ; Child ; Humans ; Male ; Metabolism ; Paresis ; Peripheral Nerves ; Plasma ; Seizures ; Sural Nerve

Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.
Accidents, Traffic ; Adrenoleukodystrophy ; Brain ; Genetic Testing ; Humans ; Membranes ; Neurologic Manifestations ; Parents ; Peroxisomes