Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: UMLS:C0162871 (abdominal aortic aneurysm)
8,664 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurologic deficits uncommonly occur following successful aortic surgery for aneurysm. Two cases are presented in which peripheral neuropathy precipitated the diagnosis of ruptured aneurysm. Both patients had large retroperitoneal hematomas at operation, and the neuropathy was due presumably to compression of the femoral and obturator nerves. Neither patient has shown significant improvement in function in the affected muscles after operation. This represents an important diagnostic sign with leaking or ruptured abdominal aortic aneurysm.
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PMID:Ruptured abdominal aneurysms presenting with unilateral peripheral neuropathy. 17 35

Sealed rupture of abdominal aortic aneurysms, even if uncommon, deserves particular attention for the possibility of misdiagnosis and for the deleterious effects of such a misdiagnosis. Sixteen patients (mean age 72 years; range 65 to 84 years) with chronic sealed rupture of abdominal aortic aneurysms are reported. Two patients had acute rupture of the aneurysm, and at operation chronic contained rupture was found along with the recent hemorrhage. One patient died after surgery. The remaining patients underwent successful resection with long-term survival and regression of symptoms. Consideration of sealed abdominal aortic aneurysm rupture should be included when examining elderly patients with history of unexplained back pain or femoral neuropathy. Computed tomography is a useful aid in the diagnosis of sealed rupture. Ultrasonography is less accurate; in three patients ultrasonography failed to diagnose the presence of the rupture.
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PMID:Sealed rupture of abdominal aortic aneurysms. 213 32

Rupture of an abdominal aortic aneurysm often presents with a pulsatile abdominal mass, abdominal pain, and hypotension. Recent clinical reports describe patients with less apparent clinical signs and symptoms who were found later in their evaluation to have a contained rupture of an abdominal aortic aneurysm. Even more unusual is a chronic contained rupture of an abdominal aortic aneurysm. Our patient had a chronic contained rupture of an abdominal aortic aneurysm that presented with erosion into the lumbar vertebral bodies and subsequent lumbar neuropathy. CT scan confirmed the contained rupture of the aortic aneurysm and the patient underwent successful repair of his aortic aneurysm. Our report discusses the significance of atypical presentations of abdominal aortic aneurysm rupture and the importance of prompt diagnosis and definitive repair.
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PMID:Chronic contained rupture of an abdominal aortic aneurysm presenting as a lower extremity neuropathy. 334 24

Rupture of an abdominal aortic aneurysm often presents with an abdominal pain, hypotension and a pulsatile abdominal mass. In the last years same clinical reports describe patients with less apparent clinical signs who were found later in their evaluation to have a contained rupture of an abdominal aortic aneurysm. The diagnosis may be delayed by consideration of other disease causing similar symptoms (herniated disc, renal colic). In these patients with confusing abdominal symptoms CT scan provides a rapid and noninvasive diagnosis. We report three cases of contained rupture of an abdominal aortic aneurysm evaluated by computed tomography with different clinical presentation: back pain for erosion into the lumbar vertebral bodies, lower extremity neuropathy and obstructive jaundice. All patients were operated on within 24 hours on admission; there was no operative mortality and survival was 100% at one year.
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PMID:[Chronic rupture of abdominal aortic aneurysms. (Report of 3 cases)]. 1092 Apr 98

Chronic rupture of an abdominal aortic aneurysm (AAA) is a rare occurrence, the presentation of which is unusual, often mimicking other conditions such as femoral neuropathy or radicular compression syndrome. We report herein the case of an 87-year-old woman found to have a contained rupture of an AAA after presenting with back pain and obstructive jaundice. A computed tomography (CT) scan revealed the contained rupture of the aneurysm with a large hematoma compressing the common bile duct. Surgical repair of the aortic aneurysm was successfully performed and the patient remains well.
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PMID:Contained rupture of an abdominal aortic aneurysm presenting as obstructive jaundice: report of a case. 1132 43

Chronic rupture of abdominal aortic aneurysm (AAA) resulting in unusual clinical manifestations can occur if the resistance of structures surrounding the aorta is sufficient to contain hemorrhage. In this report, we describe five cases of chronic ruptured AAA in which the presenting feature was crural neuropathy. All patients were male with a mean age of 74 +/- 1.8 years. At the time of presentation, crural neuropathy had been ongoing for 3 to 9 weeks. In three cases, AAA was not initially suspected because an inadequate clinical examination was performed (not in the vascular surgery department) and because of the small diameter of the aorta in relation to the patient's morphology. Two patients had one episode of hypotension that was wrongly attributed to vagal attack. Abdominal CT scanning was always diagnostic of chronic rupture. In two cases, rupture was associated with erosion of the body of one or more vertebrae and laboratory evidence of inflammation, i.e., increase in sedimentation rate and fibrinogen level. The mean diameter of the AAA was 7.1 +/- 0.9 cm (range 5-10 cm). All patients underwent midline laparotomy, which was performed under emergency conditions in two cases, under semi-emergency conditions in one case, and electively in two cases. Perforation was consistently located on the posterolateral wall of the aorta and varied from 1 to 3 cm in length. Repair was performed using an aortobifemoral prosthesis in four cases, and a straight tube in one case. The patient who underwent emergency surgery died 4 days after the procedure. The remaining four patients recovered uneventfully and were discharged after 10 days. In the elderly, ruptured AAA should be included in the differential diagnosis of crural neuropathy. An episode of hypotension, regardless of its duration, in an elderly patient should be given serious consideration as a possible sign of ruptured AAA with ongoing retroperitoneal hemorrhage.
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PMID:Chronic rupture of abdominal aortic aneurysm manifesting as crural neuropathy. 1141 97

Abdominal aortic aneurysm (AAA) is one of the important differential diagnoses of back pain which is often missed. Chronic contained rupture is a rare event that can cause diagnostic difficulties, presenting in different ways such as back pain, neuropathy or groin mass. We are presenting a case of 46-year-old man who presented with history of recurrent low back pain radiating to his left leg, associated with sensory deficit in the left thigh. His complaint proved to be resulting from chronic contained AAA leak.
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PMID:Chronic contained rupture of abdominal aortic aneurysm presenting with longstanding back pain. 1616 99

We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7). Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2(Y616C) gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2(Y616C) complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other "mitochondrial" features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.
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PMID:Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. 2202 84

ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. We also describe two families with biallelic variants in ATAD3A, including a homozygous variant in two siblings, and biallelic ATAD3A deletions mediated by nonallelic homologous recombination (NAHR) between ATAD3A and gene family members ATAD3B and ATAD3C. Tissue-specific overexpression of bor^R534W, the Drosophila mutation homologous to the human c.1582C>T (p.Arg528Trp) variant, resulted in a dramatic decrease in mitochondrial content, aberrant mitochondrial morphology, and increased autophagy. Homozygous null bor larvae showed a significant decrease of mitochondria, while overexpression of bor^WT resulted in larger, elongated mitochondria. Finally, fibroblasts of an affected individual exhibited increased mitophagy. We conclude that the p.Arg528Trp variant functions through a dominant-negative mechanism that results in small mitochondria that trigger mitophagy, resulting in a reduction in mitochondrial content. ATAD3A variation represents an additional link between mitochondrial dynamics and recognizable neurological syndromes, as seen with MFN2, OPA1, DNM1L, and STAT2 mutations.
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PMID:Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 2764 Mar 7

This is the case report of a contained ruptured aortic aneurysm presenting with acute cauda equina syndrome. The patient was a 79-year-old man. A literature search revealed various unusual presentations of abdominal aortic aneurysm (AAA), including femoral neuropathy, hip pain and others; however, there are no other reports of cauda equina-like syndrome. The present case is therefore another unusual presentation of ruptured abdominal aortic aneurysm and reiterates the utmost importance of careful history taking and clinical examination. Abdominal aortic aneurysm rupture should always be considered in the differential diagnosis of sudden onset isolated lower limb neuropathies and or pain.
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PMID:Contained ruptured abdominal aortic aneurysm presenting as cauda equina syndrome. 2806 19


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