Neonatal subpial hemorrhage along the medial side of the temporal lobe: Two case reports.

Neonatal subpial hemorrhage has been underrecognized until recently and its pathophysiology remains unclear. Advances in magnetic resonance imaging have facilitated the identification of hemorrhage within the subpial space and cohort studies recently reported its imaging and clinical features. We encountered two cases of neonatal subpial hemorrhage along the medial side of the temporal lobe. Case 1: A 1-day-old boy had repeated apneic attacks with cyanosis from 2 hours after birth at 39 weeks of gestation by vacuum extraction delivery. Computed tomography and magnetic resonance imaging showed subpial hemorrhage from the medial to caudal side of the right temporal lobe with T2 prolongation in the underlying cerebral parenchyma. Case 2: A 0-day-old boy had repeated apneic attacks with cyanosis from 3 hours after birth at 39 weeks of gestation by vaginal delivery. Subpial hemorrhage was observed from the anterior to medial side of the left temporal lobe on computed tomography and magnetic resonance imaging. On magnetic resonance imaging, the adjacent brain parenchyma showed a hyperintense signal on T2-weighted imaging. No abnormalities or signs of fetal distress were noted in the course of delivery. A mildly prolonged activated partial thromboplastin clotting time, an elevated D-dimer level, and low fibrinogen level were detected in a blood examination after birth in both cases. Both cases had subpial hemorrhage along the medial side of the temporal lobe, which suggested that an external mechanical force with fetal head molding during delivery caused subpial hemorrhage; however, other factors, including coagulopathy, may be involved in its pathophysiology.

Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndrome.

INTRODUCTION: GATA1 mutation plays an important role in initiating transient abnormal myelopoiesis (TAM) and in the clonal evolution towards acute megakaryoblastic leukaemia (AMKL) associated with Down syndrome (DS). This study aimed to develop and validate the clinical utility of a complementary DNA (cDNA) analysis in parallel with the conventional genomic DNA (gDNA) Sanger sequencing (Ss), as an initial screening test for GATA1 mutations. METHODS: GATA1 mutations were evaluated using both gDNA and cDNA in 14 DS patients using Ss and fragment analysis (FA), respectively. RESULTS: The detection sensitivity of conventional gDNA sequencing was limited in low blast percentage TAM (LBP-TAM); however, cDNA-based Ss readily detected all the pathognomonic GATA1 mutations. The cDNA-based FA readily detected GATA1 frameshift mutation with a reliable sensitivity ranging from 0.005% to 0.01% of clonal cells. CONCLUSIONS: GATA1 mutations are heterogeneous; therefore, we would like to propose a dual cDNA and gDNA analysis as a standard diagnostic approach, especially for LBP-TAM. cDNA-based FA promises an excellent sensitivity for detecting frameshift GATA1 mutations in the longitudinal clonal evolution towards AMKL without using a patient specific primer.