Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Adrenomyeloneuropathy (AMN), a clinical variant of child adrenoleukodystrophy (ALD), is an adult-onset progressive disorder which presents spastic paraparesis with peripheral nerve involvement and affects mainly the pyramidal tracts from the brainstem to the spinal cord. We report a case of AMN in which serial MRI showed unusual development of areas of high signal in the right striatum. The patient was in good health until the age of 12, when he began to lose his hair. At age 25 he started to have progressive gait disturbance and erectile impotence. In his first admission to our hospital at age 33, he showed diffuse baldness. He was intelligent but childish. His cranial nerves were normal. Muscle strength was weak (3-4/5) in the lower extremities. Deep tendon reflexes were hyperactive in the lower extremities while normal in the upper extremities. Babinski signs were elicited bilaterally. Pinprick and vibratory sensation was impaired in the lower legs. Proprioceptive sensations were normal. Co-ordination was intact. There were urinary incontinence and impairment of erection with preserved libido and ejaculation. Routine laboratory data including hematological studies, serum chemistry and urinalysis were all normal except for mild hyperlipidemia. Serum cortisol response to ACTH was low and serum levels of very long chain fatty acids were increased. Nerve conduction studies were abnormal and consistent with peripheral polyneuropathy. A biopsy specimen of left sural nerve revealed a mild loss of myelinated fibers with thinning of the myelin. These findings and the clinical features confirmed the diagnosis of AMN. MRI in SE2000/40 scans at age 34 disclosed areas of high signal in the bilateral internal capsules.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Striatal involvement on MRI in adrenomyeloneuropathy]. 165 65

The adrenoleukodystrophies (ALDs) are a group of metabolic disorders characterised by the accumulation of very long-chain fatty acids in all tissues. The two most frequent ALD phenotypes are adult-onset adrenomyeloneuropathy (AMN) and childhood cerebral ALD. Visual system involvement in the adult phenotype is well described as impairment of visual function and optic disc pallor on clinical examination accompanied by demyelination of the optic nerves seen on MRI. Thinning of the retinal nerve fiber layer and ganglion cell death has been described in a neonatal form of ALD. Our patient provides evidence, through ocular coherence tomography scanning of the retina, that such degenerative changes also underlie the visual dysfunction seen in the AMN phenotype.
 ...
PMID:Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography. 2000 81

The authors here report a single case of a 10-year-old male patient who presented with severe vision loss associated with progressive demyelination. The patient was diagnosed with X-linked childhood cerebral adrenoleukodystrophy (ALD). Genetic analysis demonstrated a missense mutation (Gly266Arg) in exon 1 of the ABCD1 gene. His corrected visual acuity confirmed the absolute lack of light perception in both eyes. Funduscopy revealed severe pallor of the optic disc in both eyes. Spectral-domain optical coherence tomography showed thinning of the retinal ganglion cell and inner plexiform layers (GCL and IPL). Thinning of the GCL and IPL may be due to transneuronal retrograde degeneration of ganglion cells secondary to optic tract demyelination.
 ...
PMID:Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with an ABCD1 Mutation (Gly266Arg). 2792 21