Noteworthy Cardiovascular Involvement with Sporadic Late-onset Nemaline Myopathy

Cardiac involvement has recently been the focus of sporadic late-onset nemaline myopathy (SLONM). However, right ventricular failure and pulmonary hypertension, in addition to repetitive cardiac arrest, are noteworthy characteristics of SLONM. We herein report a 66-year-old woman with SLONM whose main symptoms were cardiac arrest, right ventricular failure, and pulmonary hypertension. Despite permanent pacemaker replacement, cardiac arrest occurred repetitively, and even with continuous positive airway pressure, right ventricular failure and pulmonary hypertension persisted. The patient was finally diagnosed with SLONM by a muscle biopsy. Our case suggests the possibility of cardiovascular involvement in SLONM, especially right ventricular failure and pulmonary hypertension.     

Etiologies of central diabetes insipidus in Thai children

In order to determine the etiologies of central diabetes insipidus (DI) among Thai children, we retrospectively reviewed records of 67 patients (44 male and 23 female) between the age of 0.1 and 15.6 years (mean age 5.5 years) who were diagnosed with central DI at the Pediatric Endocrinology Unit, Siriraj Hospital, Bangkok, Thailand between 1996 and 2003. Etiologies were found to be central nervous system (CNS) malformations in 20 patients (29.8%), post resection of intracranial tumors and cysts in 17 patients (25.4%), intracranial tumors in 11 patients (16.4%), cerebral palsy of unknown cause in five patients (7.5%), infection in four patients (6%), and Langerhans cell histiocytosis in three patients (4.5%). In another seven patients (10.4%), the cause was considered to be idiopathic. This study revealed that CNS malformation was the most common etiology, followed by intracranial tumors and their treatment. A thorough investigation to rule out CNS lesions needs to be done before considering the diagnosis of idiopathic central DI.