Schizencephaly: a Clinical Study and Review

Page, Larry K.; Brown, Stuart B.; Gargano, Fredie P.; Shortz, Roger W.

doi:10.1159/000119586

Cited by 12 publications

(11 citation statements)

References 8 publications

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“…Since these original descriptions, schizencephalies have been reported in other autopsy cases, demonstrating that the condition could be unilateral and compatible with a long life (3, and occasionally diagnosed in vivo by means of angiography and pneumoencephalography or during the course of surgical exploration (6,7). During the last decade, improvements in neuroimaging techniques, and particularly the advent of magnetic resonance imaging (MRI), have allowed the in vivo diagnosis of an increasing number of schizencephalies (8-1 2); the malformation has also been diagnosed in utero by means of ultrasonography in a few additional cases (13)(14)(15).…”

mentioning

confidence: 99%

Schizencephaly: Neuroradiologic and Epileptologic Findings

Granata¹,

Battaglia²,

D’Incerti³

et al. 1996

Epilepsia

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Our data show that the extent of anatomic malformation is strictly related to the severity of motor and mental impairment but not to the presence or severity of epilepsy. The absence of prenatal risk factors for brain damage in our series, previously described familial cases of schizencephaly, and the recent report of mutations in homeobox gene EMX2 associated with cases of schizencephaly all indicate that genetic factors may play a key role in the pathogenesis of this brain malformation.

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mentioning

confidence: 99%

Schizencephaly: Neuroradiologic and Epileptologic Findings

Granata¹,

Battaglia²,

D’Incerti³

et al. 1996

Epilepsia

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“…Type II is characterized by a more extensive cortical defect in which the clefts are open, permitting the communication of the lateral ventricles with the subarachnoid space. 7 The clefts usually occur on the temporal or parietal lobes and are most often symmetric and bilateral, though they may be unilateral. 8 Schizencephaly is an anomaly that is part of a group of disorders in neuronal migration.…”

Section: Discussionmentioning

confidence: 99%

Postnatal evaluation of schizencephaly by transfontanellar three‐dimensional sonography

Júnior

Leite²,

Pires³

et al. 2007

J of Clinical Ultrasound

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Schizencephaly is a rare anomaly of neuronal migration characterized by the presence of brain clefts that communicate with the lateral ventricles. Type I is characterized by clefts with fused lips or margins, not communicating with the subarachnoid space. Type II is characterized by longer clefts that communicate with the subarachnoid space. Neonatal diagnosis of schizencephaly on transfontanellar two-dimensional (2D) sonography is rare, with only 1 report in the medical literature. The major limitation of 2D sonography is its inability to assess neonatal prognosis. There are no reports on MEDLINE about the use of transfontanellar three-dimensional (3D) sonography in the assessment of schizencephaly. We present a case of type II schizencephaly diagnosed on the 29th week of gestation with 2D sonography and describe the main findings with 3D sonography in surface and transparency modes performed in the neonatal period via the fontanel.

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“…Our first case is schizencephaly [4,7] accompanied by abnormal accu mulation of cerebrospinal fluid over the cerebral hemispheres. The space filled with cerebrospinal fluid is most probably the subdural compart ment.…”

Section: Discussionmentioning

confidence: 99%