Area Soci - SIEOG

Conclusioni
Negli ultimi anni le analisi molecolari hanno fatto luce sul
contributo di geni maggiori nella differenziazione e modellamento
del cervello fetale. Nonostante questo, la
patogenesi delle anomalie cerebrali della linea mediana
non è ancora completamente conosciuta.Tali anomalie
possono essere accuratamente diagnosticate mediante
la neurosonografia fetale. La RMN rappresenta un valido
ausilio nella valutazione delle MCD associate con agenesia
del corpo calloso e del setto pellucido. La diagnosi
differenziale fra la displasia setto-ottica e l’agenesia del
setto pellucido è estremamente difficoltosa, anche con
la RMN. Nel futuro i nuovi sviluppi nel campo della diagnosi
molecolare e nuove sequenze della RMN fetale
potranno essere di aiuto in tale ambito.
E’ chiaro che gli operatori che si occupano di neurosonografia
fetale devono collaborare con altri specialisti,
quali neuroradiologi, neurologi pediatri, genetisti e neuropatologi,
al fine di fornire il miglior tipo di consulenza
alle famiglie.
BIBLIOGRAFIA
Barkovich AJ. Congenital malformations of the brain and skull. Pediatric
Neuroimaging (3 rd edn). Lippincot Williams & Wilkins: Philadelphia,
2000; 251-381.
Barkovich AJ. Magnetic resonance imaging: role in the understanding
of cerebral malformations. Brain Dev., 2002; 224: 2-12.
Barr M Jr, Cohen MM Jr. Holoprosencephaly survival and performance.
Am. J. Med. Genet., 1999; 89: 116-120.
Belhocine O,Andrè C, Kalifa G,Adamsbaum C. Does asymptomatic septal
agenesis exist? A review of 34 cases. Pediatr. Radiol., 2005; 35: 410-418.
Bernard JP, Drummond CL, Zaarour P, Molho M,Ville Y. A new clue
to the prenatal diagnosis of lobar holoprosencephaly: the abnormal
pathway of the anterior cerebral artery crawling under the skull. Ultrasound
Obstet. Gynecol., 2002; 19: 605-607.
Blaas HG, Eik-Nes SH,Vainio T, Isaksen CV.Alobar holoprosencephaly
at 9 weeks gestational age visualized by twoand three-dimensional
ultrasound. Ultrasound Obstet. Gynecol., 2000; 15: 62-65.
Blaas HG, Eriksson AG, Salvesen KA et al. Brains and faces in holoprosencephaly:
pre- and postnatal description of 30 cases. Ultrasound
Obstet. Gynecol., 2002; 19: 24-38.
Bullen PJ, Rankin JM, Robson SC. Investigation of epidemiology and
prenatal diagnosis of holoprosencephaly in North of England. Am. J.
Obstet. Gynecol., 2001; 184: 1256-1262.
Cohen MM Jr. Holoprosencephaly: clinical, anatomic and molecular
dimensions. Birth Defects Res.A. Clin. Mol.Teratol., 2006; 76: 658-673.
Corballis MC, Barnett KJ, Fabri M, Paggi A, Corballis PM. Hemispheric
integration and differences in perception of a linemotion illusion
in the divided brain. Neuropsychologia, 2004; 42: 1852-1857.
Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic
and clinical characteristics of a California population.Am. J. Med. Genet.,
1996; 64: 465-472.
D’Addario V, Pinto V, Di Cagno L, Pintucci A.The midsagittal view of
the fetal brain: a useful landmark in recognizing the cause of fetal cerebral
ventriculomegaly. J. Perinat. Med., 2005; 33: 423-427.
David AL, Gowda V,Turnbull C, Chitty LS. Recurrence of holoprosencephaly.
Obstet. Gynecol., 2007; 110: 658-662.
De Morsier G. Etudes sur les dystrophies cranio-encephaliques III.Agenesie
du septum pellucidum avec malformation du tractus optique:la dysplasie septo-optique.
Schweiz. Arch. Neurol. Neurochir. Psychiatr., 1956; 77: 267-292.
23
DeMyer W, Zeman W. Alobar holoprosencephaly (arhinencephaly)
with median cleft lip and palate: clinical, electroencephalographic and
nosologic considerations. Confin. Neurol., 1963; 23: 1-36.
DeMyer W, Zeman W, Palmer CG.The face predicts the brain: Diagnostic
significance of median facial anomalies for holoprosencephaly
(archinencephaly). Pediatrics, 1964; 34: 256-263.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly.
Orphanet. J. Rare Dis., 2007; 2: 8.
Fratelli N, Papageorghiou AT, Prefumo F, Bakalis S, Homfray T,Thilaganathan
B. Outcome of prenatally diagnosed agenesis of the corpus
callosum. Prenat. Diagn., 2007; 27: 512-517.
Friefeld S, MacGregor D, Chuang S, Saint-Cyr J. Comparative study
of inter- and intrahemispheric somatosensory functions in children
with partial and complete agenesis of the corpus callosum. Dev. Med.
Child. Neurol., 2000; 42: 831-838.
Jeret JS, Serur D, Wisniewski K. Frequency of agenesis of the corpus
callosum in the developmentally disabled population as determined
by computerized tomography. Pediatr. Neurosci., 1985-1986;
12: 101-103.
Kelberman D, Dattani MT. Septo-optic dysplasia-novel insights into the
aetiology. Horm. Res., 2008; 69: 257-265.
Lepinard C, Coutant R, Boussion F et al. Prenatal diagnosis of absence
of the septum pellucidum associated with septo-optic dysplasia.
Ultrasound Obstet. Gynecol., 2005; 25: 73-75.
Malinger G, Lev D, Kidron D, Heredia F, Hershkovitz R, Lerman-Sagie
T. Differential diagnosis in fetuses with absent septum pellucidum.
Ultrasound Obstet. Gynecol., 2005; 25: 42-49.
Malinger G, Zakut H.The corpus callosum: normal fetal development
as shown by transvaginal sonography. Am. J. Roentgenol., 1993; 161:
1041-1043.
Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic
studies of 150 cases.Teratology, 1977; 16: 261-272.
Monteagudo A, Reuss ML,Timor-Tritsch IE. Imaging the fetal brain in
the second and third trimesters using transvaginal sonography. Obstet.
Gynecol., 1991; 77: 127-132.
Moutard ML, Kieffer V, Feingold J et al.Agenesis of corpus callosum: prenatal
diagnosis and prognosis. Childs Nerv. Syst., 2003; 19: 471-476.
Olsen CL, Hughes JP,Youngblood LG, Sharpe-Stimac M. Epidemiology
of holoprosencephaly and phenotypic characteristics of affected children:
New York State, 1984-1989. Am. J. Med. Genet., 1997; 73: 217-226.
Ong S,Tonks A,Woodward ER,Wyldes MP, Kilby MD. An epidemiological
study of holoprosencephaly from a regional congenital anomaly
register: 1995-2004. Prenat. Diagn., 2007; 27: 340-347.
Orioli IM, Castilla EE. Clinical epidemiologic study of holoprosencephaly
in South America.Am. J. Med. Genet., 2007; 143A: 3088-3099.
Paladini D, Volpe P. Central and peripheral nervous system anomalies.
In Ultrasound of Congenital Fetal Anomalies, Paladini D,Volpe P
(eds). Informa Healthcare UK Ltd., London, 2007; 11-61.
Pilu G, Romero R, Rizzo N, Jeanty P, Bovicelli L, Hobbins JC. Criteria
for the prenatal diagnosis of holoprosencephaly.Am. J. Perinatol., 1987;
4: 41-49.
Pilu G, Sandri F, Perolo A et al. Prenatal diagnosis of lobar holoprosencephaly.
Ultrasound Obstet. Gynecol., 1992; 2: 88-94.
Pilu G, Sandri F, Perolo A et al. Sonography of fetal agenesis of the
corpus callosum: a survey of 35 cases. Ultrasound Obstet. Gynecol.,
1993; 3: 318-329.
Pilu G, Segata M, Ghi T et al. Diagnosis of midline anomalies of the
fetal brain with the three dimensional median view. Ultrasound Obstet.
Gynecol., 2006; 27: 522-529.
Pilu G,Tani G, Carletti A, Malaigia S, Ghi T, Rizzo N. Difficult early sonographic
diagnosis of absence of the fetal septum pellucidum. Ultrasound
Obstet. Gynecol., 2005; 25: 70-72.
Plawner LL, Delgado MR, Miller VS, Levey EB, Kinsman SL, Barkovich
AJ. Neuroanatomy of holoprosencephaly as predictor of function:
beyond the face predicting the brain. Neurology, 2002; 59: 1058-1066.