Emery dreifuss muscular dystrophy(EDMD) is a rare genetic syndrome consisting of tendon retractions,progressive muscle atrophy and cardiac involvement.We report a case of an obese patient affected by the familial X-li...Emery dreifuss muscular dystrophy(EDMD) is a rare genetic syndrome consisting of tendon retractions,progressive muscle atrophy and cardiac involvement.We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy.To date,EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions.Our case confirms the variable expressivity of the disease and suggests a possible role of Emerin in the intranuclear regulation of signals for adipocyte cell differentiation.展开更多
We present our experience of microsurgical treatment of pericallosal artery aneurysms (PCAA) in three neurosurgical centers in Abidjan (Ivory Coast) from 1990 to 2016. This present study aimed to evaluate characterist...We present our experience of microsurgical treatment of pericallosal artery aneurysms (PCAA) in three neurosurgical centers in Abidjan (Ivory Coast) from 1990 to 2016. This present study aimed to evaluate characteristics of 6 patients with PCAA treated during a 26-year period and to establish the rate, clinical nuances, anatomical variations and respective microsurgical approaches of PCAA in Abidjan. We analyzed medical files of all 93 patients admitted for an intracranial aneurysm between 1990 and 2016 and focused on the 6 patients who were treated for a PCCA. The mean age of patients was 37 years, half of whom were less than 30 years old. They were 3 men and 3 women. The time from first symptom to admission was more than 3 days, but less than 16 days. Five out of six patients had ruptured aneurysms and the clinical condition on admission was WFNS grade 0 one patient (16.67%) and WFNS I-III five patients (83.33%). Analysis of radiological data revealed Fischer grade IV three patients and Fischer grade I-II three patients. A total of 7 PCCA were recorded and they accounted for 6.19% of all intracranial aneurysms and 9.72% of all anterior circulation aneurysms. Six out of seven aneurysms (85.71%) were either smaller (2 - 6 mm) or middle sized (6 - 15 mm). There was only one (14.29%) giant PCA aneurysm (>25 mm). According to the location, two aneurysms (28.57%) were located on the A2 segment of the pericallosal artery (PCA) and five (71.43%) on the A3 segment of the artery. We found 4 cases of saccular aneurysms (57.14%) and 3 cases of fusiform aneurysms (42.86%), two of which were located on A2 segments of the 2 PCA on the same patient (16.67%). We didn’t find any PCA anatomical variation associated with any of the 7 aneurysms. Two patients developed perioperative rebleeding and in 1 case a severe preoperative hydrocephalus was diagnosed. The median time from rupture to surgery was 59.5 days with a range of 14 to 180 days. Treatment techniques included 4 clipping (57.14%) and 3 wrapping (42.86%). In 2 cases there was premature perioperative rupture of the aneurysm (33.33%). One patient (16.67%) had postoperative persistent anosmia and, we didn’t record any fatal outcome in our series. PCAA remain rare anterior circulation aneurysms, located in the vast majority of cases, on the A3 segment of the PCA and, are mostly smaller in size even when ruptured. Microsurgical clipping remains a safe and effective treatment option despite their complex surgical approaches and the risk of premature rupture.展开更多
文摘Emery dreifuss muscular dystrophy(EDMD) is a rare genetic syndrome consisting of tendon retractions,progressive muscle atrophy and cardiac involvement.We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy.To date,EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions.Our case confirms the variable expressivity of the disease and suggests a possible role of Emerin in the intranuclear regulation of signals for adipocyte cell differentiation.
文摘We present our experience of microsurgical treatment of pericallosal artery aneurysms (PCAA) in three neurosurgical centers in Abidjan (Ivory Coast) from 1990 to 2016. This present study aimed to evaluate characteristics of 6 patients with PCAA treated during a 26-year period and to establish the rate, clinical nuances, anatomical variations and respective microsurgical approaches of PCAA in Abidjan. We analyzed medical files of all 93 patients admitted for an intracranial aneurysm between 1990 and 2016 and focused on the 6 patients who were treated for a PCCA. The mean age of patients was 37 years, half of whom were less than 30 years old. They were 3 men and 3 women. The time from first symptom to admission was more than 3 days, but less than 16 days. Five out of six patients had ruptured aneurysms and the clinical condition on admission was WFNS grade 0 one patient (16.67%) and WFNS I-III five patients (83.33%). Analysis of radiological data revealed Fischer grade IV three patients and Fischer grade I-II three patients. A total of 7 PCCA were recorded and they accounted for 6.19% of all intracranial aneurysms and 9.72% of all anterior circulation aneurysms. Six out of seven aneurysms (85.71%) were either smaller (2 - 6 mm) or middle sized (6 - 15 mm). There was only one (14.29%) giant PCA aneurysm (>25 mm). According to the location, two aneurysms (28.57%) were located on the A2 segment of the pericallosal artery (PCA) and five (71.43%) on the A3 segment of the artery. We found 4 cases of saccular aneurysms (57.14%) and 3 cases of fusiform aneurysms (42.86%), two of which were located on A2 segments of the 2 PCA on the same patient (16.67%). We didn’t find any PCA anatomical variation associated with any of the 7 aneurysms. Two patients developed perioperative rebleeding and in 1 case a severe preoperative hydrocephalus was diagnosed. The median time from rupture to surgery was 59.5 days with a range of 14 to 180 days. Treatment techniques included 4 clipping (57.14%) and 3 wrapping (42.86%). In 2 cases there was premature perioperative rupture of the aneurysm (33.33%). One patient (16.67%) had postoperative persistent anosmia and, we didn’t record any fatal outcome in our series. PCAA remain rare anterior circulation aneurysms, located in the vast majority of cases, on the A3 segment of the PCA and, are mostly smaller in size even when ruptured. Microsurgical clipping remains a safe and effective treatment option despite their complex surgical approaches and the risk of premature rupture.
