ABSTRACT
We describe a fetus with a hypoplastic right ventricle detected by prenatal ultrasound examination. A possible causal relationship with prenatal valproate exposure is discussed.
Subject(s)
Anticonvulsants/adverse effects , Heart Defects, Congenital/chemically induced , Heart Defects, Congenital/diagnostic imaging , Heart Ventricles/diagnostic imaging , Ultrasonography, Prenatal , Valproic Acid/adverse effects , Abortion, Induced , Adult , Diagnosis, Differential , Epilepsy/complications , Epilepsy/drug therapy , Female , Heart Defects, Congenital/embryology , Heart Ventricles/embryology , Humans , Migraine Disorders/complications , Migraine Disorders/drug therapy , Pregnancy , Pregnancy Complications/drug therapy , Pregnancy Trimester, SecondABSTRACT
The possibility of gene-teratogen interaction is suggested in a family formerly reported by Gardner et al. [(2001) Clin Dysmorphol 10:203-208] in which both concordance and discordance exist for congenital malformations in equally valproate-exposed siblings.
Subject(s)
Anticonvulsants/adverse effects , Consanguinity , Teratogens/toxicity , Valproic Acid/adverse effects , HumansABSTRACT
Maternal antiepileptic drug use during pregnancy is associated with an increased prevalence of congenital malformations in the offspring. This article describes the commonly known teratogenic effects of antiepileptic drugs. Options for primary and secondary prevention are discussed.
Subject(s)
Exons/genetics , Glucan 1,4-alpha-Glucosidase/genetics , Glycogen Storage Disease Type II/genetics , DNA/genetics , Glucan 1,4-alpha-Glucosidase/metabolism , Glycogen Storage Disease Type II/enzymology , Haplotypes , Mutation , Netherlands , Polymorphism, Single Nucleotide , Sequence Deletion , alpha-GlucosidasesABSTRACT
The intrafamilial variability of late-onset glycogen storage disease type II was studied in siblings of 18 patients and in reports in the literature. Siblings of seven of the 18 index cases opted for DNA testing or enzyme studies after being informed by the index case of the availability of testing, and after genetic counselling. Of the 12 siblings tested, five asymptomatic individuals were diagnosed (mean age, 32.8 years; range, 17-53). Intrafamilial variability in the age at onset (more than 10 years difference) or in the clinical symptoms was found in one of seven sibships tested in this study, and also in seven sibships reported in the literature. We advocate that testing should not be offered to healthy siblings of late-onset glycogen storage disease type II patients as a routine, because it is impossible to give a precise prognosis to an individual who is symptom-free, but has been identified with a glycogen storage disease type II genotype, nor is there any therapeutic intervention available.
Subject(s)
Family Health , Glycogen Storage Disease Type II/genetics , Adolescent , Adult , Age of Onset , Female , Genetic Variation , Humans , Male , Middle Aged , PhenotypeABSTRACT
OBJECTIVES: To compare the overall birth prevalence of diagnosed glycogen storage disease type II (GSD II) with the predicted frequency based on mutation screening, in order to determine whether GSD II is an underdiagnosed condition, and to analyze which medical disciplines recognize GSD II. METHODS: Retrospective data on all enzymatic diagnoses of GSD II were collected from diagnostic labs throughout the Netherlands, covering the period from January 1, 1972 to December 31, 1996. Age-specific diagnostic incidence rates were calculated for the entire study period. By adding together the diagnostic incidences for all age groups, we calculated the birth prevalence of diagnosed GSD II and compared these figures with the predicted frequency based on mutation screening in a random sample from the general population. The medical specialization of the referring clinicians was also recorded. RESULTS: GSD II was diagnosed in 154 individuals, including 11 prenatal diagnoses. The birth prevalences of the various phenotypes were 1/101,000 (infantile form), 1/720,000 (juvenile form) and 1/53,000 (adult form). The birth prevalence of the adult and infantile phenotype together was 1/35,000. Eighty-two percent of the patients were diagnosed in university hospitals. Of the patients with infantile GSD II, 71% were diagnosed by a pediatrician, whereas most patients with adult GSD II were diagnosed by a neurologist (80%). CONCLUSIONS: There is no evidence for the underdiagnosis of GSD II in the Netherlands, as the calculated birth prevalences of the disease are consistent with previous predictions based on mutation screening in a random sample of newborns. The worldwide birth prevalence of the disease may well be higher than 1 in 100,000. GSD II is mainly diagnosed in university hospitals.
