Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a 47-year-old patient with asymmetrical proximal paraparesis a long cervical and thoracic spinal epidural lipomatosis was found, by computed tomography and (the first such case) magnetic resonance imaging, to be the cause of the signs of a transverse cord lesion. Such a space-occupying mass is a rare complication of long-term corticosteroid medication--in this case administered for over seven years for bronchial asthma. Contrary to the majority of similar reported cases, no decompression operation was performed, because the neurological signs had not progressed and the clinical findings in fact quickly regressed once the steroid dosage had been reduced and they showed a clear dependence on the amount of steroid administered.
 ...
PMID:[Epidural lipomatosis as a complication of a long-term glucocorticoid therapy]. 305 51

An uncommon autopsy case involving Proteus syndrome with multiple hamartomatous lesions in a 52 year old woman is reported. At birth, hemihypertrophy was noted on the right side of the face. Leiomyoma of the urinary bladder was extirpated at 37 years of age. She died of sepsis due to a brain abscess. At autopsy, diffuse asymmetrical lipomatosis was noted on the right side of the face, scalp, lip, oral mucosa, tongue and on the left side of the cerebellar peduncle. Multiple meningiomas, cavernous hemangiomas and osseous hypertrophy overlapped in the intracranial regions. The present case is considered as a regional type of Proteus syndrome displaying a somatic mosaicism.
 ...
PMID:Regional Proteus syndrome: report of an autopsy case. 755 Oct 15

This 44-year-old man presented with a 4-year history of progressive spastic weakness of his legs. He was found to have epidural lipomatosis behind the thoracic spinal cord, and the nerve roots exited from the posterior and anterior midline planes of the dura, indicating a 90 degree rotation of the thoracic cord. Magnetic resonance images clearly demonstrated the segmental thoracic nerve roots exiting from the dorsal midline of the dura, a finding confirmed at surgery. The authors found only one previously published case of rotation of the spinal cord. Directed mechanical stress caused by deformation of the rotated spinal cord, rather than compression from adipose tissue, is proposed as the mechanism of the myelopathy. The extent, location, and thickness of the associated extradural adipose tissue is suggestive of epidural lipomatosis. The lipomatous tissue might have been an epiphenomenon and cord rotation an isolated congenital anomaly. Alternatively, asymmetrical growth of epidural fat may have exerted torque, rotating the thecal sac.
 ...
PMID:Ninety-degree rotation of the thoracic spinal thecal sac. Case report. 964 84

The concept of autosomal lethal genes surviving only in a mosaic state was proposed by Happle to explain the genetic basis of several syndromes characterized by (almost always) sporadic occurrence, distribution of lesions in a scattered or asymmetrical pattern, variable extent of involvement, lack of diffuse involvement of entire organs, and equal sex ratio. The mosaic may either arise from a gametic half-chromatid mutation or from an early postzygotic mutation. The purpose of this article is to review current knowledge of the genetics and cutaneous manifestations of some of the birth defects to which the lethal gene concept is thought to apply: the Schimmelpenning (Feuerstein-Mims) syndrome, Proteus syndrome, encephalocraniocutaneous lipomatosis, Sturge-Weber and Klippel-Trenaunay syndrome, cutis marmorata teleangiectatica congenita (van Lohuizen syndrome), and neurocutaneous melanosis.
 ...
PMID:Cutaneous mosaicism of lethal mutations. 1039 56