Recurrent non-immune hydrops fetalis with gracile bones and dysmorphic features in siblings

We report on two siblings with recurrent non-immune hydrops fetalis of unknown etiology. The proposita was born at 32-week gestation with hydrops fetalis. She died at less than 1 hr of age despite resuscitative efforts. Her brother was born 1 1/2 years later to the same parents. He was also born at 32-week gestation and lived 40 min. At birth, both individuals were noted to have marked edema of the entire body, slightly low set ears, small nose, mild micrognathia, small chest, camptodactyly, single transverse palmar creases, rhizomelic shortening of the upper extremities, slight ankle varus deformity bilaterally and bilateral humeral fractures. Postnatal chromosomal analysis of the first patient was normal. In both cases, evaluation for lysosomal storage disorders utilizing skin fibroblasts was negative. The radiographs and autopsies were done on both patients and showed diffuse soft-tissue edema, gracile bones, especially in the upper extremities and ribs, and bilateral humeral fractures in both children. Both patients had absence of germ cells. The skeletal system in both appeared otherwise normal. After testing for infectious, chromosomal, hematological, hepatic and metabolic causes, we were unable to identify the etiology of the condition in the above patients. Further, we have been unable to identify a reported genetic condition with the features present in these cases. As such, we believe that the disorder in the individuals reported here represent a new autosomal recessive condition.     

The D allele of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism is associated with worse functional outcome of ischaemic stroke

Purpose: Insertion/deletion polymorphism in ACE gene (ACE I/D) is known to be associated with the occurrence of ischaemic stroke through its effect on pathogenesis of atherosclerosis and hypertension. This study was aimed to examine the association between this polymorphism with functional outcome of ischaemic stroke.

Method: This was a cross-sectional study. The subjects were patients with ischaemic stroke in a reference hospital in Yogyakarta, Indonesia. Data on demographic characteristics, stroke risk factors, comorbidities and stroke severity were assessed on admission. The functional outcome, Barthel index (BI), was assessed when the patients were discharged from the hospital. ACE I/D genotypes of the patients were identified by polymerase chain reaction (PCR).

Result: In total, 61 patients were included. Of these, 38 patients (62.3%) had II polymorphism, 22 patients (36.1%) had ID polymorphism and 1 patient (1.6%) had DD polymorphism in the ACE gene. There were significant differences in the functional outcomes between patients without D allele (II polymorphisms) and patients with D allele (ID and DD polymorphism) (mean BI on discharge: 75 ± 23.57 and 60.65 ± 27.15, respectively; p = 0.034). Multiple linear regression model showed that the availability of D allele is an independent variable negatively associated with functional outcome as assessed by BI (β = ?0.232, p = 0.024).

Conclusion: This study showed that the D allele in ACE I/D polymorphism is associated with worse functional outcomes. This highlights the possibility of further research to improve functional outcomes of ischaemic stroke by inhibiting the ACE system.