IllnessSchizencephaly

NGS +

Schizencephaly is a rare congenital neuronal migration disorder characterized by unilateral or bilateral brain clefts lined with heterotopic gray matter and filled with CSF. Either the CSF passage is prevented (type I), or CSF can circulate between the ventricular cavity and the subarachnoid space (type II). The clinical presentation of schizencephaly is broad. Patients may have normal cognition, with epileptic seizures occurring in adulthood. Motor deficits are more common than other neurologic deficits. Alternatively, patients may show hemiparesis with mild developmental delay or even severe cognitive impairment with quadriparesis. The further prognosis depends on the size and type of cleft(s). In addition to teratogenic agents, prenatal viral infections and stroke, causal genetic factors play an important role - as they do also in syndromic constellations, like e.g. the Vici syndrome. Even when larger gene panels are used, the yield in molecular genetic diagnostics is limited. Therefore, a negative DNA test result cannot exclude the clinical diagnosis made by magnetic resonance imaging, among other methods.

References: https://www.ncbi.nlm.nih.gov/books/NBK578067/

https://www.ncbi.nlm.nih.gov/books/NBK584989/

https://www.ncbi.nlm.nih.gov/books/NBK350554/

doi: 10.1002/ana.23736. Epub 2012 Dec 7.

• Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Allelic: Brain small vessel disease 2 (COL4A2)
• Allelic: Brain small vessel disease with/without ocular anomalies (COL4A1)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A2)
• Allelic: Holoprosencephaly (SHH)
• Allelic: Holoprosencephaly 2 (SIX3)
• Allelic: Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Allelic: Microphthalmia with coloboma 5(SHH)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Single median maxillary central incisor (SHH)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
• Schizencephaly (COL4A1, EMX2, SHH, SIX3)