Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A two year and ten-month-old girl with cerebello-brain stem leukodystrophy is presented. She was hypotonic with spasticity and showed delayed motor development until she was twelve months old, when regression of motor activities began. Progressive hypotonia, dysphagia and fatal respiratory abnormalities developed. Auditory brain stem response was absent. Pathological examination revealed primary demyelination with a predilection for the cerebellum, brain stem and spinal cord, in association with changes of the cerebellar cortex, pontine nuclei, inferior olivary nuclei and part of the basal ganglia. Clinical, pathological and biochemical studies revealed that this disease is different from metachromatic leukodystrophy, Krabbe's globoid cell leukodystrophy and adrenoleukodystrophy. The clinical entity of cerebello-brain stem orthochromatic leukodystrophy is discussed.
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PMID:Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis. 647 80

We studied the correlation between neuroradiological findings and pathological observations of white matter lesions in a patient with frontal type adrenoleukodystrophy. A 41-year-old man developed schizophrenic symptoms and generalized convulsions at the age of 40. Examination revealed baldness, loss of the axillary hair, stereotypical behavior, mutism, dysphagia echographia, right hemiparesis, and brisk reflexes in all four limbs with bilateral extensor plantar responses. Blood examination revealed a high concentration of very-long-chain fatty acids in plasma; the patient was diagnosed as having adrenoleukodystrophy. His condition continued to worsen, and gradually he became akinetic. He died of pneumonia at the age of 43. T1- and T2-weighted MR images distinguished three abnormal zones in the cerebral white matter in this case. In the first zone (Z1), the signal intensity was moderately high on T2-weighted images and slightly low on T1-weighted images; this zone was not enhanced with Gd-DTPA. In the second zone (Z2), the signal intensity was slightly high on T2-weighted images, while moderately low on T1-weighted images; Z2 was enhanced with Gd-DTPA. In the third zone (Z3), the signal intensity was markedly high on T2-weighted images and low on T1-weighted images; Z3 was not enhanced with Gd-DTPA. Z3 was located in the frontal pole; Z2 and Z1 were consecutively located in rostro-caudal fashion in the brain. The subsequent pathological study of the brain of this patient revealed the following findings: Z1 showed destruction of myelin with axonal sparing, Z2 showed numerous lipid-laden macrophages, demyelinated axons, and a vigorous perivascular mononuclear cell response, Z3 consisted of a dense mesh of glial fibrils and scattered astrocytes without any evidence of an active process. In this study, the correlation between MR images and pathological findings in adrenoleukodystrophy was clearly established. Single photon emission tomography with 99mTc-hexamethylpropyleneamine oxime, and positron emission tomography with 15O2 continuous inhalation technique showed a reduction in the regional cerebral blood flow (rCBF) and in the regional cerebral metabolic rate of oxygen (rCMRO2) in the cerebral cortex near the Z1 and Z3. A normal or slight increase of rCBF and a reduction of r CMRO2 was found in the cerebral cortex near the Z2. Coronal MR images showed that Z3 was located in the deep white matter, while Z2 and Z1 were consecutively located in an inner-outward fashion, suggesting that the demyelination process started in the cingulum and spread in an inner-outward fashion and progressed in rostro-caudal manner.
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PMID:[Frontal type adrenoleukodystrophy: the progress of the white matter lesion--a neuroradiological and pathological study]. 856 49

The clinical course of Japanese patients with childhood and adolescent adrenoleukodystrophy (ALD) who were treated with Lorenzo's oil after the progression of early symptoms was investigated by Kaplan-Meier analyses. Many of the early symptoms, including visual, personality, hearing, mental and speech disturbances, had already appeared when the oil therapy was started. These early symptoms appeared significantly faster than bed-ridden state or dysphagia (P<0.01). Gait disturbance appeared faster than bed-ridden state and dysphagia (P<0.05), and tended to appear later than the early symptoms. These results would reflect the early natural course of childhood and adolescent ALD before treatment, and provide a basis for the evaluation of therapeutic trials for ALD.
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PMID:The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil. 1122 26

X-linked adrenoleukodystrophy is a progressive neurodegenerative disorder involving the destruction of white matter in the brain and adrenocortical hormone deficiency. Clinical symptoms first appear between 4 and 8 years of age and include spasticity, visual loss, dysphagia, and seizures. In this report, continuous infusion of intrathecal baclofen was used to treat the severe spasticity of an 8-year-old patient with X-linked adrenoleukodystrophy. The improvement in this patient's quality of life, including the elimination of pain and the increased ease of care, suggests that intrathecal baclofen should be considered as part of the treatment strategy for spasticity associated with X-linked adrenoleukodystrophy and other neurodegenerative disorders in children and adults.
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PMID:Intrathecal baclofen in X-linked adrenoleukodystrophy. 1127 68

Seizures in cerebral X-linked adrenoleucodystrophy (X-ALD) more frequently occur in the early-onset compared to the late-onset form. Here we describe an adult in whom X-ALD deteriorated after head trauma and who developed epilepsy with progression of X-ALD. In a 50 year-old Caucasian male, cerebral X-ALD was diagnosed upon progressive gait disturbance, intellectual decline, elevated very-long chain fatty acids in the serum or leucocytes, cerebral MRI, showing extensive, symmetric, homogenous demyelination in the parieto-occipital areas, the splenium corporis callosum, the thalamus, the crura cerebri, the brain stem, and the pedunculi cerebelli, and the deletion c.1415-1416delAG in the ABCD1-gene. After a head trauma the phenotype deteriorated to mutism, dysphagia, and severe spastic quadruparesis. At an age of 50 years the patient experienced his first, self-limiting, tonic-clonic seizure during an infection, which is why valproic acid was started. Recurrence of seizures after discharge required repeated adaptation of the valproic acid-dosage. Adult X-ALD may be associated with late-onset seizures, which respond favourably to valproic acid. Since any type of seizure episode in adult-onset cerebral X-ALD is usually followed by neurological decline, prophylactic treatment with antiepileptic drugs should be considered not only in early-onset but also in adult-onset epilepsy in X-ALD.
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PMID:Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene. 2315 58

Adrenoleukodystrophy classically presents in childhood with bronze skin, spastic tetraparesis, dysphagia, behavioural abnormalities and adrenal insufficiency. However, atypical presentations are known. Here we report an adolescent with adrenoleukodystrophy who first sought medical attention for glue sniffing.
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PMID:Adrenoleukodystrophy presenting as glue sniffing. 3216 80