Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13—an important diagnostic aid

Abstract

We performed a retrospective review of all the infants diagnosed with trisomy 13 in our institution from 1982 to 1995 and evaluated the neurosonographic findings along with their clinical information and cytogenetic analysis. Nine babies were admitted with trisomy 13. Sonography of the head was performed on 4 patients, and demonstrated in all of them a linear, branching, echogenic pattern in the thalamus/basal ganglia. Doppler evaluation of the thalamus/basal ganglia was performed in 3 of the 4 cases and confirmed these linear echogenicities to be of vascular origin. This is the first study to evaluated the occurrence of this finding in a specific syndrome, namely trisomy 13.

Lenticulostriate vasculopathy in very preterm infants

“…We did not find associations with (other) changes on cUS or MRI, and, as expected, no equivalent was found for LSV on MRI 2 3 4 5 6 13 21 22 28. An explanation for this may be that ultrasound and MR imaging are based on different technologies, making detection of vascular deposits and/or calcifications difficult with MRI.…”

“…LSV has been associated with several clinical conditions, including infections, both congenital (eg, Toxoplasmosis, Other, Rubella, Cytomegalovirus, Herpes (including Parvo B19) (TORCH) infections) and acquired, chromosomal abnormalities, congenital heart disease, other congenital malformations, hypoxic-ischaemic events, fetal alcohol and drug exposure, twin-to-twin transfusion syndrome, neonatal lupus erythematosus, hydrops fetalis, metabolic disorders and diabetic fetopathy 2 3 4 5 6 7 8 9 10 12 13 15 17 18 19 20 21 22 23 24 25 26 27 28. It occurs more often in infants of multiple than of singleton pregnancies and in full-term than in preterm neonates 12 13 25 26.…”

Neonatal lenticulostriate vasculopathy: further characterisation

“…†Includes cytomegalovirus (26), rubella (4), rotavirus (5). ‡Includes trisomy 13 (16), trisomy 21 (8), other (1). §Reference 7 was not included because it included a selected population (premature infants <1250 g); references 8 and 9 were not included because the size of the study population was not recorded.…”

“…4 Since the initial description of LSV by Grant et al 10 in 1985, more than 25 reports of neonatal LSV have been published, in which LSV appeared to be associated with a variety of congenital and acquired neonatal conditions, such as fetal and neonatal infections, mainly cytomegalovirus, 1-4 6-9 11-15 chromosomal aberrations, 2-4 6 8 9 16 17 hypoxic/ischaemic conditions, [4][5][6] congenital heart disease, 4 fetal alcohol or drug exposure, [3][4][5][6] congenital malformations, 1 4 6 neonatal lupus erythematosus, 3 6 twin to twin transfusion, 18 sialidosis, 19 hydrops fetalis, 6 and diabetic fetopathy. 1 Most published reports of LSV are either of large retrospective studies [2][3][4][5][6][7] or are case reports, [10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] except for one prospective study by Kriss et al 8 in which prospective screening of brain sonograms performed in the neonatal intensive care unit (NICU), rather than of neonates, was conducted. From the literature on LSV, no clear conclusions can be drawn about the consequences of LSV on the sick neonate.…”