ABSTRACT
OBJECTIVE: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort. METHODS: Over an 8-year period, 140 patients with cerebellar ataxia were observed. There were 109 patients with sporadic cerebellar ataxia (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-MSA-C sporadic cerebellar ataxia) and 31 patients with familial cerebellar ataxia. We performed gene analysis comprising SCA1, 2, 3, 6, 7, 8, 12, 17, 31, and dentatorubro-pallidoluysian atrophy (DRPLA) in 28 of 31 non-MSA-C sporadic patients who requested the test. Familial patients served as a control. RESULTS: Gene abnormalities were found in 57% of non-MSA-C sporadic cerebellar ataxia cases. Among patients with sporadic cerebellar ataxia, abnormalities in SCA6 were the most common (36%), followed by abnormalities in SCA1 (7.1%), SCA2 (3.6%), SCA3 (3.6%), SCA8 (3.6%), and DRPLA (3.6%). In contrast, gene abnormalities were found in 75% of familial cerebellar ataxia cases, with abnormalities in SCA6 being the most common (29%). For sporadic versus familial cases for those with SCA6 abnormalities, the age of onset was older (69 years vs. 59 years, respectively), and CAG repeat length was shorter (23 vs. 25, respectively) in the former than in the latter (not statistically significant). CONCLUSION: Autosomal-dominant mutations in SCA genes, particularly in SCA6, are not rare in sporadic cerebellar ataxia. The reason for the frequency of mutations in SCA6 remains unclear; however, the reason may reflect a higher age at onset and variable penetrance of SCA6 mutations.
Subject(s)
Humans , Age of Onset , Asian People , Atrophy , Cerebellar Ataxia , Cohort Studies , Diagnosis , Family Characteristics , Genetic Testing , Heredity , Multiple System Atrophy , Penetrance , Spinocerebellar AtaxiasABSTRACT
We describe the case of a 59-year-old man who developed constrictive epicarditis 2 months after an episode of acute pericarditis. Magnetic resonance imaging demonstrated parietal pericarditis and epicarditis. Through a median sternotomy, a markedly thickened parietal epicardium was noted which was removed where possible. After this procedure, however, no improvement of the hemodynamic parameters was observed. We attempted removal of the epicardium, but the procedure had to be abandoned due to myocardial injuries and bleeding. Multiple longitudinal and transverse incisions were carefully performed on the thickened epicardium, following which relief of constriction along with a remarkable improvement of the hemodynamic status was achived. Although the dip and plateau pattern was persisted, cardiac index increased from 2.2 to 2.9 <i>l</i>/min/m<sup>2</sup> and the pulmonary capillary wedge pressure decreased from 20 to 13 mmHg. Patient's postoperative course was uneventful and he was discharged on postoperative day 22.
ABSTRACT
A 74-year-old man with very severe chronic obstructive pulmonary disease (COPD) was scheduled for elective total arch replacement for a distal arch saccular aneurysm. Postoperative respiratory failure was anticipated because of a marked reduction in forced expiratory volume in one second (FEV<sub>1.0</sub> - less than 0.5<i>l</i>). Through median sternotomy, total arch replacement using selective cerebral perfusion was completed uneventfully. Postoperative respiratory condition was stable. Therefore, the patient was extubated on postoperative day 2 (POD2). However, as the respiratory condition started getting worse, respiratory therapy external (RTX) was introduced to assist ventilation. Additionally, non-invasive positive pressure ventilation (NPPV) with BiPAP was used on POD3 and management with both RTX and NPPV was continued during the remainder of the intensive care unit stay. As a result, we were able to avoid re-intubation. In conclusion, assisted ventilation supplemented by RTX and NPPV was useful for the prevention of postoperative respiratory failure in a patient with very severe COPD undergoing total arch replacement.
ABSTRACT
Pulmonary artery (PA) aneurysm is rare, but its true incidence is unclear, because most cases remain asymptomatic. The need for surgical treatment is controversial. We report two cases of surgical treatment of PA aneurysm associated with pulmonary valve (PV) disease in adults. Case1: A 54-year-old woman. She underwent pulmonary valvotomy for pulmonary stenosis (PS) at age 22. She had suffered from palpitations and dyspnea on effort recently. Then progressive changes of pulmonary stenosis-regurgitation (PSR) occurred. After further examinations, she was diagnosed as having PA aneurysm and right ventricular dysfunction with PSR, tricuspid regurgitation and paroxysmal atrial fibrillation. We performed PV replacement, PA aneurysmo-plasty, tricuspid annuloplasty, cryo-MAZE procedure. Case2: A 70-year-old man sufferd recently from dyspnea on effort. The dilatation of the pulmonary artery was pointed out on chest X-ray. PA aneurysm and PS with ventricular arrhythmia were diagnosed. We performed PV commissurotomy and PA aneurysmo-plasty. There were no significant findings of high PA pressure in either case. PA with pulmonary valve disease in the presence of low pulmonary pressure have low risk of rupture and dissection. Surgical treatments are recommended when right ventricular dysfunction or ventricular arrhythmia secondary to pulmonary valve disease is present.