Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate

Journal of Clinical Ultrasound

Volumn 36, Issue 6, 2008, Pages 387-390

  Jagła, Mateusz ^a   Kruczek, Piotr ^a   Kwinta, Przemko ^a  

^a JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

Ambiguous genitalia; Brain; Lenticulostriate vasculopathy; Lissencephaly; Sonography

Indexed keywords

AGYRIA; ARTICLE; ARX GENE; BRAIN CORTEX; CASE REPORT; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; DISEASE ASSOCIATION; ECHOGRAPHY; GENE; GENE MUTATION; GENITAL MALFORMATION; HUMAN; HUMAN TISSUE; LENTICULOSTRIATE VASCULOPATHY; MALE; MICROPENIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; VASCULAR DISEASE; X CHROMOSOME LINKED DISORDER; X LINKED LISSENCEPHALY WITH AMBIGUOUS GENITALIA SYNDROME;

BASAL GANGLIA CEREBROVASCULAR DISEASE; BRAIN; CHROMOSOMES, HUMAN, X; GENITALIA, MALE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; PHENOTYPE; SYNDROME;

EID: 47149114770     PISSN: 00912751     EISSN: 10970096     Source Type: Journal    
DOI: 10.1002/jcu.20473     Document Type: Article

References (17)

1. Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003;12:R89.
2. Dobyns WB, Berry-Kravis E, Havernick NJ, et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 1999;86:331.
3. Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol 2005;47:133.
4. Dobyns WB, Leventer RJ. Lissencephaly: the clinical and molecular genetic basis of diffuse malformations of neuronal migration. In: Barth PG, editor. International Review of Child Neurology Series. London: Mac Keith Press; 2003, p 24.
5. Bonneau D, Toutain A, Laquerriere A, et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol 2002;51:340.
6. Berry-Kravis E, Israel J. X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. Ann Neurol 1994; 36:229.
7. Ogata T, Matsuo N, Hiraoka N, et al. X-linked lissencephaly with ambiguous genitalia: delineation of further case. Am J Med Genet 2000;94:174.
8. Kitamura K, Yanazawa M, Sugiyama N, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002;32:359.
9. El Ayoubi M, de Bethmann O, Monset-Couchard M. Lenticulostriate echogenic vessels: clinical and sonographic study of 70 neonatal cases. Pediatr Radiol 2003;33:697.
10. Teele RL, Hernanz-Schulman M, Sotrel A. Echogenic vasculature in the basal ganglia of neonates: a sonographic sign of vasculopathy. Radiology 1988;169:423.
11. Wang HS, Kuo MF, Chang TC. Sonographic lenticulostriate vasculopathy in infants: some associations and a hypothesis. AJNR Am J Neuroradiol 1995;16:97.
12. Banerjea MC, Speer CP. Bilateral thalamic lesions in a newborn with intrauterine asphyxia after maternal cardiac arrest - a case report with literature review. J Perinatol 2001;21:405.
13. Makhoul IR, Eisenstein I, Sujov P, et al. Neonatal lenticulostriate vasculopathy: further characterisation. Arch Dis Child Fetal Neonatal Ed 2003; 88:F410.
14. Cabanas F, Pellicer A, Morales C, et al. New pattern of hyperechogenicity in thalamus and basal ganglia studied by color Doppler flow imaging. Pediatr Neurol 1994;10:109.
15. Kriss VM, Kriss TC. Doppler sonographic confirmation of thalamic and basal ganglia vasculopathy in three infants with trisomy 13. J Ultrasound Med 1996;15:523.
16. Coley BD, Rusin JA, Boue DR. Importance of hypoxic/ischemic conditions in the development of cerebral lenticulostriate vasculopathy. Pediatr Radiol 2000;30:846.
17. Hughes P, Weinberger E, Shaw DW. Linear areas of echogenicity in the thalami and basal ganglia of neonates: an expanded association. Work in progress. Radiology 1991;179:103.