Mitochondrial DNA depletion syndrome is a clinically heterogeneous group of disorders characterized by a reduction in mitochondrial DNA copy number. The recent discovery of mutations in the deoxyguanosine kinase (dGK) gene in patients with the hepatocerebral form of mitochondrial DNA depletion syndrome prompted us to screen 21 patients to determine the frequency of dGK mutations, further characterize the clinical spectrum, and correlate genotypes with phenotypes. We detected mutations in three patients (14%). One patient had a homozygous GATT duplication (nucleotides 763-766), and another had a homozygous GT deletion (nucleotides 609-610); both mutations lead to truncated proteins. The third patient was a compound heterozygote for two missense mutations (R142K and E227K) that affect critical residues of the protein. These mutations were associated with variable phenotypes, and their low frequencies suggests that dGK is not the only gene responsible for mitochondrial DNA depletion in liver. The patient with the missense mutations had isolated liver failure and responded well to liver transplantation, which may be a therapeutic option in selected cases.

Abdominal pregnancy is a potentially lethal condition that is often misdiagnosed. A clinically suspected abdominal pregnancy at 31 gestational weeks was demonstrated by transvaginal sonogram and confirmed at laparotomy.

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The cerebral function monitor, a system which records integrated electroencephalograms, was used to assess neurological status of newborns who had a non-reactive non-stress test prior to delivery. Babies born within 24 h of a non-reactive tracing had a significant lack of sleep cycling and persistence of immature patterns when compared with controls matched for gestational age.

The NICHD fetal heart rate category during labor may be associated with survival for infants born at 23 and 24 weeks of gestation. Cesarean delivery was not associated with improved survival.