The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia

Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% over the age of 80. FMR1 molecular analysis was done using PCR and confirmed by Southern Blot. Three premutation males were diagnosed FXTAS using quantification based on the standard neurological examination. Cognitive impairment was assessed using Raven and WAIS-R test. MRI was done to identify the middle cerebellar peduncle (MCP) sign, white matter disease and/or cerebral atrophy. Three cases of FXTAS are identified, of five individuals older than 50 years in one family tree two met criteria for definite FXTAS and the third with sub-clinical symptoms, although cognitive and radiological criteria are met. These cases are the first identified FXTAS cases in rural Indonesia. In addition with lack of routine medical follow-up, complications of FXTAS, such as hypertension may go unrecognized and untreated, which may further exacerbate the central nervous system (CNS) findings of FXTAS

INTESTINAL PSEUDOOBSTRUCTION IN MYOTONIC-DYSTROPHY

We describe four myotonic dystrophy (DM) patients who developed recurrent intestinal pseudo-obstruction. Some episodes were associated with gastroenteritis, while abdominal crowding may have occurred in one case during the third trimester of pregnancy. In most instances, however, no apparent cause could be identified. Intestinal pseudo-obstruction may occur at any stage of DM. In one of our cases intestinal pseudo-obstruction preceded significant muscle weakness by IS years. Intestinal pseudo-obstruction is usually treated effectively with conservative measures. These include restriction of oral intake, intravenous fluids, and multiple enemas or colonoscopy. Improved intestinal function was noted in one case treated with the prokinetic agent cisapride. A partial sigmoid resection was performed in three cases with dolichomegacolon. No abnormalities were reported on histological examination. Since intestinal pseudo-obstruction is a rare complication of DM, it is of interest that two of our cases are sibs. Review of published reports showed several reports of familial occurrence of specific complications. These include cardiac conduction disturbances, focal myocarditis, mitral valve prolapse, pilomatrixomas, polyneuropathy, normal pressure hydrocephalus, and dilatation of the urinary tract. Myotonic dystrophy may show a tendency to familial clustering of organ specific involvement.</p

A Dutch kindred with familial amyloidotic polyneuropathy associated with the transthyretin Cys 114 mutant

A Dutch kindred with transthyretin Cys 114 related familial amyloidotic polyneuropathy is reported. The finding of early involvement of the heart is of great concern and of special relevance to the optimal timing for liver transplantation. To date, the variant had only been reported to be present in Japan. The variant was identified by PCR DNA amplification, single strand conformation polymorphism analysis and DNA sequence analysis. Total transthyretin serum levels in 6 Cys 114 patients (median 115 mg/l, range 70-150) were found to be significantly lower than in 12 Met 30 patients (median 325 mg/l, range 160-590) (

Perlman syndrome: Four additional cases and review

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor. (C) 1999 Wiley-Liss, Inc