1/18. adult-onset adrenoleukodystrophy: a clinical and neuropsychological study.adrenoleukodystrophy (ALD) is a rare, X-linked inherited metabolic disease, which is associated with the accumulation of very long chain fatty acids (VLCFA) in the adrenal glands and in the central and peripheral nervous systems. ALD leads to leukoencephalic myeloneuropathy and hypoadrenalism. The two most frequent phenotypes are infantile ALD and adrenomyeloneuropathy (AMN), which account for 80% of cases. adult-onset ALD is rare (1-3%). The cases reported so far have had a variable course and have often been characterised by prevalently psychiatric symptoms. We describe the case of a 37-year-old man affected by ALD whose symptoms first appeared a few years earlier in the form of worsening personality and memory disturbances, and were followed by the onset of spastic paraparesis and amyotrophy indicative of the concomitant presence of AMN. The neuropsychological alterations configure a picture of mainly frontal cortico-subcortical dementia, which is supported by magnetic resonance findings.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/18. Human herpesvirus 6 limbic encephalitis after stem cell transplantation.central nervous system complications are common in stem cell transplant recipients, but selective involvement of the medial temporal area is unusual. The 5 patients reported here presented after stem cell transplantation with increased hippocampal T2 signal on magnetic resonance imaging and increased hippocampal glucose uptake on [F-18]fluorodeoxyglucose-positron emission tomography (FDG-PET) associated with short-term memory loss, insomnia, and temporal lobe electrographic seizure activity. The initial scalp electroencephalograms (EEGs) failed to detect seizure activity in these patients, although the memory dysfunction along with the magnetic resonance imaging and FDG-PET findings suggested subcortical seizure activity. However, extended EEG monitoring revealed repetitive temporal lobe electrographic seizure activity. Follow-up MRIs in 2 patients and postmortem findings on 1 patient suggested that hippocampal sclerosis had developed following the clinical syndrome. cerebrospinal fluid studies revealed the presence of human herpesvirus 6, variant B, dna in all of 3 patients who had lumbar punctures. Immunohistochemical staining for the P41 and P101 human herpesvirus 6 protein antigens showed numerous immunoreactive astrocytes and neurons in the hippocampus of 1 of the patients who died from other causes. Because of its subtle clinical presentation, this syndrome may be underrecognized, but can be diagnosed with appropriate magnetic resonance imaging techniques, EEG monitoring, and cerebrospinal fluid viral studies.- - - - - - - - - - ranking = 4.6778485836068keywords = lobe (Clic here for more details about this article) |
3/18. Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy.An 11-year-old boy with an atypical form of X-linked adrenoleukodystrophy is reported predominantly involving the frontal lobes, and later spreading to temporal lobes. Magnetization transfer contrast T1-weighted, and FLAIR images without intravenous paramagnetic contrast medium, clearly identified the leading edge of a central necrotic zone, as well as a splenial lesion. Zonal differences were identified on ADC maps of an echo-planar diffusion MRI sequence that the ADC value of central zone (2.06 x 10(-3) mm(2)/sec) was higher than that of the peripheral zone (1.67 x 10(-3) mm(2)/sec). On proton spectroscopy, besides changes in the peaks of NAA, choline, and myoinositol, prominent peaks between 0.9 and 1.4 ppm were shown belonging to macromolecules, probably to very long chain fatty acids, a diagnostic feature of adrenoleukodystrophy. In addition, a distinct and prominent glycine peak was observed at 3.50 ppm, reflecting excitotoxic brain damage.- - - - - - - - - - ranking = 4.6778485836068keywords = lobe (Clic here for more details about this article) |
4/18. Adrenal functions in children with adrenoleukodystrophy.BACKGROUND: adrenoleukodystrophy refers to an inherited disorder that mainly affects the adrenal gland, and the nervous system. The most common type is X-linked adrenoleukodystrophy (XALD). The main presenting symptoms are behavioral changes. However, endocrinological manifestations are also important and need to be clarified especially adrenal insufficiency which is a lifethreatening condition that can be prevented. OBJECTIVE: To review the endocrinological and the adrenal functions in X-linked ALD. SUBJECTS AND METHOD: The medical records of four patients diagnosed with ALD at the endocrinology and Metabolic Unit, Department of pediatrics, King Chulalongkorn Memorial Hospital between 1998 and 2000 were reviewed. The diagnoses were confirmed by elevated very long chain fatty acid (VLCFA) levels and the typical changes seen on magnetic resonance imaging (MRI) of the brain. The adrenal functions in these patients were studied. RESULTS: All patients presented between 7-11 years of age with learning problems and behavioral changes, without symptoms of adrenal insufficiency such as nausea, vomiting and abdominal pain. However, the physical signs of adrenal insufficiency such as generalized hyperpigmentation particularly on the nipples, skin creases and genitalia were present. The laboratory investigations revealed normal blood sugar and serum electrolytes. The adrenal functions were revealed as follows. Basal ACTH levels were high in 2 cases (290, > 1,250 pg/mL). Basal cortisol level was low in 1 case. ACTH stimulation tests revealed subnormal responses in 3 cases. magnetic resonance imaging of the brain showed white matter degeneration in the occipital area in 2 cases and frontal area in 2 cases. CONCLUSION: adrenal insufficiency can be detected by laboratory evaluation despite the lack of symptoms, therefore, the adrenal function should be evaluated in X-ALD at diagnosis for proper management.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
5/18. Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation.Reversible posterior leukoencephalopathy syndrome (RPLS) was described by Hinchey and colleagues in 1996. The disorder occurs predominantly in patients with acute hypertension and/or on pharmacological immunosuppression. We report a 6-year-old male with cerebral X-linked adrenoleukodystrophy who received an HLA-matched unrelated bone marrow transplant (BMT). cyclosporine was used as graft-versus-host disease prophylaxis. At 55 days post-BMT, his cyclosporine concentrations were high for several days and the concentration was still high on day 70 (353 microg/L). He presented 83 days post-BMT with new onset of headache, lethargy, acute visual loss and focal seizures. He was not hypertensive. MRI of the head revealed signal changes that now extended more peripherally into the subcortical and cortical regions of the occipital and temporal lobes. The patient's cyclosporine was stopped for 5 days. The patient's vision returned to normal and his headaches and lethargy resolved with no further seizures 3 weeks later. Follow-up MRI of the head 2 months later showed almost complete resolution of the cortical signal abnormalities. It is important to consider RPLS in patients with cerebral adrenoleukodystrophy who present with acute neurological deterioration. attention to the pattern of white matter and the presence of cortical grey matter involvement on neuroimaging is important for the diagnosis. When appropriate management is initiated, that is controlling hypertension when present and discontinuing or reducing the dose of offending immunosuppressive agents, the acute neurological symptoms will usually resolve.- - - - - - - - - - ranking = 2.3389242918034keywords = lobe (Clic here for more details about this article) |
6/18. Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.Adrenomyeloneuropathy is a varient of adrenoleukodystrophy, both of which are rare inherited disorders of peroxisomes characterized by the accumulation of very-long-chain fatty acids in plasma, the central and peripheral nervous systems, adrenal glands and testes, which leads to dysfunction of these organs and systems. In this article, we describe an illustrative case of adrenomyeloneuropathy and discuss the clinical presentation, diagnosis and management of the 2 disorders.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
7/18. Adrenomyeloneuropathy.Adrenomyeloneuropathy is a rare X-linked inherited disorder of peroxisomes characterized by the accumulation of very long chain fatty acids (VLCFA) in the central and peripheral nervous system, adrenal glands and testis leading to the dysfunction of these organs and systems. The phenotypic expression is highly variable, childhood cerebral adrenoleukodystrophy and adrenomyeloneuropathy being the main variants. Here we report a case of adrenomyeloneuropathy presenting initially as Addison's disease, which remained undiagnosed for many years with many rare features. We could not locate any other publication on this subject in the indexed journals of literature published from india.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
8/18. Computed tomography, magnetic resonance imaging, positron emission tomography and evoked potentials at early stage of adrenoleukodystrophy.An 8 year-old-boy with adrenoleukodystrophy (ALD) was subject to an x-ray computed tomography (CT) scan, magnetic resonance imaging (MRI), positron emission tomography (PET) using 18F-fluorodeoxy glucose and evoked potential studies, about 3 months after the onset of neurologic symptoms. A CT showed decreased radiodensity over the white matter of both occipital lobes, and high density areas on the periventricular space. No contrast enhancement was observed around the low dense white matter, while occipital grey matter seemed to be almost normal. MRI demonstrated a larger and more obvious lesion of prolonged T2 relaxation time which was 170-250 msec than that detected by CT scan. The PET demonstrated wide and severe hypometabolism for glucose over the grey and the white matter of bilateral occipital lobes. The visual evoked potential (VEP) was scarcely elicitable, while the auditory brainstem response (ABR) and short latency somatosensory evoked potential (SSEP) was normal. These imaging studies suggest that extensive and profound demyelination exists in the occipital white matter. For detection of demyelinizing process, MRI may be more effective than CT in this disorder. The PET study revealed that there may have been an abnormality of the grey matter as well as the white matter in the occipital lobe. The VEP disappeared in the relatively early stage. The brainstem may not be involved at such early stage in light of normal ABR and SSEP.- - - - - - - - - - ranking = 7.0167728754103keywords = lobe (Clic here for more details about this article) |
9/18. An adult case of adrenoleukodystrophy with features of olivo-ponto-cerebellar atrophy: II. Lipid biochemical studies.Different portions with or without demyelination or degeneration of formalin-fixed brain tissues of a patient with adrenoleukodystrophy and a control subject were applied to analyses of lipids, particularly sphingolipids and cholesteryl ester. Demyelinated area of the white matter in the occipital lobe showed marked decrease in cerebroside and sulfatide except for sphingomyelin and, conversely an accumulation of cholesteryl ester, whereas un-demyelinated white matter in the frontal lobe showed no abnormalities in lipids. Abnormalities of lipids in degenerated lateral nuclei of the thalamus were not so remarkable as the demyelinated white matter, whereas apparently normal dorsomedial nuclei of the thalamus showed no abnormalities in lipids. With regard to the fatty acid composition of abnormal lipids in the demyelinated white matter, all sphingolipids of cerebroside, sulfatide, and sphingomyelin showed remarkable reduction of their longer chain fatty acids and, conversely a significant increment of shorter chain fatty acids. However, these fatty acids in the degenerated lateral nuclei of the thalamus were not so different from those in the undemyelinated and apparently normal areas as well as in control brain. The fatty acids of cholesteryl ester contained mainly C18:1 and C16 acids, and very long chain fatty acids, namely fatty acids with chain length more than 22 carbons, by about 22% of the total fatty acids. In view of the analytical results of the fatty acid composition of brain lipids, it was inconceivable that this ALD patient brain showed especially the accumulation of very long chain fatty acids, and that the biochemical defect in this disease was related to the abnormal oxidation of very long chain fatty acids in peroxisomes. However, the neuropathological findings of demyelination, reactive astrocytosis, and massive infiltration of foam cells well correlated with the abnormalities in myelin lipids and the accumulation of cholesteryl ester. Also, the lower values of urinary 17-ketosteroid and 17-hydroxycorticosteroid suggested that the failure of ACTH to stimulate corticoid secretion seemed to indicate the relationship between the adrenocortical insufficiency and the affected areas of the central nervous system.- - - - - - - - - - ranking = 4.6778485836068keywords = lobe (Clic here for more details about this article) |
10/18. adrenoleukodystrophy. Report of an autopsy case with adrenoleukomyeloneuropathy.The patient was a 27-year-old man who developed spastic quadriplegia and cerebral disorders. Initial signs were gait disturbance, spastic paraplegia, and sphincter disturbance; these occurred when he was 21. Upon autopsy, the white matter of the brain and spinal cord showed diffuse demyelination, and the adrenal glands and right testis were atrophic. Cytoplasmic striations seen by light microscopy and trilamellar inclusions seen by electron microscopy were found in ballooned adrenocortical cells. Trilamellar inclusions were also observed in macrophages of the affected cerebral white matter. Biochemical analysis disclosed a high ratio (0.27) of hexacosanoic acid (C26:0) to docosanoic acid (C22:0) in cerebrosides and sulfatides of the cerebrum. The histological features as well as the result of biochemical analysis were those of classical adrenoleukodystrophy. However, the time of the onset of clinical signs and the duration of the disease were different in the present case from classical adrenoleukodystrophy. The case presented here was diagnosed as adrenoleukomyeloneuropathy, which is a variant of adrenoleukodystrophy.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
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