Schizencephaly: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Schizencephaly | |||
| image = [[File:Schizenzephalie_CT_axial.jpg|250px]] | |||
| caption = CT scan showing schizencephaly | |||
| field = [[Neurology]] | |||
| symptoms = [[Seizures]], [[developmental delay]], [[motor impairment]], [[hydrocephalus]] | |||
| complications = [[Cerebral palsy]], [[intellectual disability]] | |||
| onset = [[Congenital disorder|Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]], [[environmental factors]] | |||
| risks = [[Family history]], [[maternal infection]] | |||
| diagnosis = [[MRI]], [[CT scan]] | |||
| differential = [[Porencephaly]], [[lissencephaly]], [[polymicrogyria]] | |||
| treatment = [[Anticonvulsant|Anticonvulsants]], [[physical therapy]], [[occupational therapy]], [[surgery]] | |||
| prognosis = Varies depending on severity | |||
| frequency = Rare | |||
}} | |||
'''Schizencephaly''' is a rare [[birth defect]] characterized by abnormal clefts lined with [[grey matter]] that form the [[ependyma]] of the [[cerebral ventricles]] to the [[pia mater]]. These clefts can occur bilaterally or unilaterally. Common clinical features of this malformation include [[epilepsy]], motor deficits, and psychomotor retardation. | '''Schizencephaly''' is a rare [[birth defect]] characterized by abnormal clefts lined with [[grey matter]] that form the [[ependyma]] of the [[cerebral ventricles]] to the [[pia mater]]. These clefts can occur bilaterally or unilaterally. Common clinical features of this malformation include [[epilepsy]], motor deficits, and psychomotor retardation. | ||
==Presentation== | ==Presentation== | ||
Schizencephaly can be distinguished from [[porencephaly]] by the fact that in schizencephaly, the fluid-filled component is entirely lined by [[Heterotopia (medicine)|heterotopic]] grey matter, while a porencephalic cyst is lined mostly by [[white matter]]. Individuals with bilateral clefts often exhibit developmental delays, speech and [[language]] difficulties, and [[corticospinal]] dysfunction. Unilateral clefts may result in weakness or paralysis on one side of the body with potentially average or near-average intelligence. Other features include: | Schizencephaly can be distinguished from [[porencephaly]] by the fact that in schizencephaly, the fluid-filled component is entirely lined by [[Heterotopia (medicine)|heterotopic]] grey matter, while a porencephalic cyst is lined mostly by [[white matter]]. Individuals with bilateral clefts often exhibit developmental delays, speech and [[language]] difficulties, and [[corticospinal]] dysfunction. Unilateral clefts may result in weakness or paralysis on one side of the body with potentially average or near-average intelligence. Other features include: | ||
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* [[Seizures]] | * [[Seizures]] | ||
* [[Hydrocephalus]] | * [[Hydrocephalus]] | ||
==Causes== | ==Causes== | ||
Schizencephaly is thought to result from early disruption of grey matter migration during embryogenesis. The underlying causes may include genetic mutations or environmental insults such as infections, infarctions, hemorrhages, in utero strokes, or exposure to toxins. Normal neuron migration during the second trimester of development is disrupted, leading to the malformation. | Schizencephaly is thought to result from early disruption of grey matter migration during embryogenesis. The underlying causes may include genetic mutations or environmental insults such as infections, infarctions, hemorrhages, in utero strokes, or exposure to toxins. Normal neuron migration during the second trimester of development is disrupted, leading to the malformation. | ||
===Genetic=== | ===Genetic=== | ||
Some cases have been linked to mutations in genes such as ''[[COL4A1]]'', which play a role in brain development and structural integrity. | Some cases have been linked to mutations in genes such as ''[[COL4A1]]'', which play a role in brain development and structural integrity. | ||
===In utero infections=== | ===In utero infections=== | ||
Environmental exposures during pregnancy, such as maternal infections like [[Cytomegalovirus]], toxin exposure, or vascular events, can also contribute to the condition. Associated heterotopias (misplaced neurons) are often observed, indicating disrupted neuronal migration. | Environmental exposures during pregnancy, such as maternal infections like [[Cytomegalovirus]], toxin exposure, or vascular events, can also contribute to the condition. Associated heterotopias (misplaced neurons) are often observed, indicating disrupted neuronal migration. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis is typically made using imaging studies, such as: | Diagnosis is typically made using imaging studies, such as: | ||
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* [[Magnetic resonance imaging]] (MRI) | * [[Magnetic resonance imaging]] (MRI) | ||
Genetic testing may confirm mutations associated with susceptibility to the condition. | Genetic testing may confirm mutations associated with susceptibility to the condition. | ||
==Treatment== | ==Treatment== | ||
Management focuses on addressing symptoms and may include: | Management focuses on addressing symptoms and may include: | ||
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* Seizure management | * Seizure management | ||
* Placement of a shunt in cases of hydrocephalus | * Placement of a shunt in cases of hydrocephalus | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for schizencephaly varies based on the size of the clefts and the degree of neurological impairment. Individuals with smaller or unilateral clefts generally have better outcomes compared to those with bilateral clefts. | The prognosis for schizencephaly varies based on the size of the clefts and the degree of neurological impairment. Individuals with smaller or unilateral clefts generally have better outcomes compared to those with bilateral clefts. | ||
==Frequency== | ==Frequency== | ||
Although schizencephaly is rare, having a sibling with the condition increases the risk, suggesting a potential genetic component. Certain gene mutations, including those in [[SIX3]] and ''[[COL4A1]]'', may be implicated. | Although schizencephaly is rare, having a sibling with the condition increases the risk, suggesting a potential genetic component. Certain gene mutations, including those in [[SIX3]] and ''[[COL4A1]]'', may be implicated. | ||
== External links == | == External links == | ||
{{Medical resources | {{Medical resources | ||
| ICD10 = {{ICD10|Q|04|6|q|00}} | | ICD10 = {{ICD10|Q|04|6|q|00}} | ||
| ICD9 = {{ICD9|742.4}} | | ICD9 = {{ICD9|742.4}} | ||
| ICDO = | | ICDO = | ||
| OMIM = 269160 | | OMIM = 269160 | ||
| OMIM_mult = | | OMIM_mult = | ||
| MedlinePlus = | | MedlinePlus = | ||
| eMedicineSubj = radio | | eMedicineSubj = radio | ||
| eMedicineTopic = 622 | | eMedicineTopic = 622 | ||
| DiseasesDB = 33031 | | DiseasesDB = 33031 | ||
| MeshID = D054220 | | MeshID = D054220 | ||
| Orphanet=799 | | Orphanet=799 | ||
}} | }} | ||
* [http://www.omim.org/search?index=entry&start=1&limit=10&sort=score+desc&search=number:(269160+OR+603714) OMIM entries on Familial Schizencephaly, SIX3-Related] | * [http://www.omim.org/search?index=entry&start=1&limit=10&sort=score+desc&search=number:(269160+OR+603714) OMIM entries on Familial Schizencephaly, SIX3-Related] | ||
{{Congenital malformations and deformations of nervous system}} | {{Congenital malformations and deformations of nervous system}} | ||
[[Category:Congenital disorders of nervous system]] | [[Category:Congenital disorders of nervous system]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{nt}} | {{nt}} | ||
Latest revision as of 22:56, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Schizencephaly | |
|---|---|
| File:Schizenzephalie CT axial.jpg | |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Seizures, developmental delay, motor impairment, hydrocephalus |
| Complications | Cerebral palsy, intellectual disability |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation, environmental factors |
| Risks | Family history, maternal infection |
| Diagnosis | MRI, CT scan |
| Differential diagnosis | Porencephaly, lissencephaly, polymicrogyria |
| Prevention | N/A |
| Treatment | Anticonvulsants, physical therapy, occupational therapy, surgery |
| Medication | N/A |
| Prognosis | Varies depending on severity |
| Frequency | Rare |
| Deaths | N/A |
Schizencephaly is a rare birth defect characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater. These clefts can occur bilaterally or unilaterally. Common clinical features of this malformation include epilepsy, motor deficits, and psychomotor retardation.
Presentation[edit]
Schizencephaly can be distinguished from porencephaly by the fact that in schizencephaly, the fluid-filled component is entirely lined by heterotopic grey matter, while a porencephalic cyst is lined mostly by white matter. Individuals with bilateral clefts often exhibit developmental delays, speech and language difficulties, and corticospinal dysfunction. Unilateral clefts may result in weakness or paralysis on one side of the body with potentially average or near-average intelligence. Other features include:
Causes[edit]
Schizencephaly is thought to result from early disruption of grey matter migration during embryogenesis. The underlying causes may include genetic mutations or environmental insults such as infections, infarctions, hemorrhages, in utero strokes, or exposure to toxins. Normal neuron migration during the second trimester of development is disrupted, leading to the malformation.
Genetic[edit]
Some cases have been linked to mutations in genes such as COL4A1, which play a role in brain development and structural integrity.
In utero infections[edit]
Environmental exposures during pregnancy, such as maternal infections like Cytomegalovirus, toxin exposure, or vascular events, can also contribute to the condition. Associated heterotopias (misplaced neurons) are often observed, indicating disrupted neuronal migration.
Diagnosis[edit]
Diagnosis is typically made using imaging studies, such as:
- Computed tomography (CT)
- Magnetic resonance imaging (MRI)
Genetic testing may confirm mutations associated with susceptibility to the condition.
Treatment[edit]
Management focuses on addressing symptoms and may include:
- Physical therapy using neurodevelopmental techniques
- Occupational therapy with specific emphasis on neurological approaches
- Seizure management
- Placement of a shunt in cases of hydrocephalus
Prognosis[edit]
The prognosis for schizencephaly varies based on the size of the clefts and the degree of neurological impairment. Individuals with smaller or unilateral clefts generally have better outcomes compared to those with bilateral clefts.
Frequency[edit]
Although schizencephaly is rare, having a sibling with the condition increases the risk, suggesting a potential genetic component. Certain gene mutations, including those in SIX3 and COL4A1, may be implicated.
External links[edit]
| Congenital malformations and deformations of nervous system | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
|
