exencephaly..case
TRANSCRIPT
مبسم هللا الرحمن الرحي
30year old female came for routine obstetrical examination her fetus of 17 wk gestational age
Ultrasound examination reveal active single viable fetus with absence of
skull vault the brain is preserved hellip
jaw
Brain tissue
Brain tissue
exencephally
bull is a lethal congenital fetal brain developmental anomaly (neural tube defect)
bull It is characterized by calvarial absence and loss of fetal brain tissue to variable degrees and is considered a precursor to anencephaly in the acrania-exencephally-anencephaly sequence
Radiographic featuresbull Imaging features have some overlap with that of
anencephaly except that there is some brain tissue presence
bull cranial vault is absent or poorly formed Nasal bone may be absent in most cases
bull brain tissue is herniating or dangling in amniotic fluid
bull brain tissue may be attached to the amniotic membrane
Treatment and prognosis
bull Exencephaly is a precursor to anencephaly and essentially a lethal condition Advise and counseling for abortion is to be given to the parents
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
30year old female came for routine obstetrical examination her fetus of 17 wk gestational age
Ultrasound examination reveal active single viable fetus with absence of
skull vault the brain is preserved hellip
jaw
Brain tissue
Brain tissue
exencephally
bull is a lethal congenital fetal brain developmental anomaly (neural tube defect)
bull It is characterized by calvarial absence and loss of fetal brain tissue to variable degrees and is considered a precursor to anencephaly in the acrania-exencephally-anencephaly sequence
Radiographic featuresbull Imaging features have some overlap with that of
anencephaly except that there is some brain tissue presence
bull cranial vault is absent or poorly formed Nasal bone may be absent in most cases
bull brain tissue is herniating or dangling in amniotic fluid
bull brain tissue may be attached to the amniotic membrane
Treatment and prognosis
bull Exencephaly is a precursor to anencephaly and essentially a lethal condition Advise and counseling for abortion is to be given to the parents
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
Ultrasound examination reveal active single viable fetus with absence of
skull vault the brain is preserved hellip
jaw
Brain tissue
Brain tissue
exencephally
bull is a lethal congenital fetal brain developmental anomaly (neural tube defect)
bull It is characterized by calvarial absence and loss of fetal brain tissue to variable degrees and is considered a precursor to anencephaly in the acrania-exencephally-anencephaly sequence
Radiographic featuresbull Imaging features have some overlap with that of
anencephaly except that there is some brain tissue presence
bull cranial vault is absent or poorly formed Nasal bone may be absent in most cases
bull brain tissue is herniating or dangling in amniotic fluid
bull brain tissue may be attached to the amniotic membrane
Treatment and prognosis
bull Exencephaly is a precursor to anencephaly and essentially a lethal condition Advise and counseling for abortion is to be given to the parents
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
jaw
Brain tissue
Brain tissue
exencephally
bull is a lethal congenital fetal brain developmental anomaly (neural tube defect)
bull It is characterized by calvarial absence and loss of fetal brain tissue to variable degrees and is considered a precursor to anencephaly in the acrania-exencephally-anencephaly sequence
Radiographic featuresbull Imaging features have some overlap with that of
anencephaly except that there is some brain tissue presence
bull cranial vault is absent or poorly formed Nasal bone may be absent in most cases
bull brain tissue is herniating or dangling in amniotic fluid
bull brain tissue may be attached to the amniotic membrane
Treatment and prognosis
bull Exencephaly is a precursor to anencephaly and essentially a lethal condition Advise and counseling for abortion is to be given to the parents
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
Brain tissue
Brain tissue
exencephally
bull is a lethal congenital fetal brain developmental anomaly (neural tube defect)
bull It is characterized by calvarial absence and loss of fetal brain tissue to variable degrees and is considered a precursor to anencephaly in the acrania-exencephally-anencephaly sequence
Radiographic featuresbull Imaging features have some overlap with that of
anencephaly except that there is some brain tissue presence
bull cranial vault is absent or poorly formed Nasal bone may be absent in most cases
bull brain tissue is herniating or dangling in amniotic fluid
bull brain tissue may be attached to the amniotic membrane
Treatment and prognosis
bull Exencephaly is a precursor to anencephaly and essentially a lethal condition Advise and counseling for abortion is to be given to the parents
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
exencephally
bull is a lethal congenital fetal brain developmental anomaly (neural tube defect)
bull It is characterized by calvarial absence and loss of fetal brain tissue to variable degrees and is considered a precursor to anencephaly in the acrania-exencephally-anencephaly sequence
Radiographic featuresbull Imaging features have some overlap with that of
anencephaly except that there is some brain tissue presence
bull cranial vault is absent or poorly formed Nasal bone may be absent in most cases
bull brain tissue is herniating or dangling in amniotic fluid
bull brain tissue may be attached to the amniotic membrane
Treatment and prognosis
bull Exencephaly is a precursor to anencephaly and essentially a lethal condition Advise and counseling for abortion is to be given to the parents
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
Radiographic featuresbull Imaging features have some overlap with that of
anencephaly except that there is some brain tissue presence
bull cranial vault is absent or poorly formed Nasal bone may be absent in most cases
bull brain tissue is herniating or dangling in amniotic fluid
bull brain tissue may be attached to the amniotic membrane
Treatment and prognosis
bull Exencephaly is a precursor to anencephaly and essentially a lethal condition Advise and counseling for abortion is to be given to the parents
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
Treatment and prognosis
bull Exencephaly is a precursor to anencephaly and essentially a lethal condition Advise and counseling for abortion is to be given to the parents
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
DDx
bull Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present
bull The condition is thought to result from abnormal migration of mesenchymal tissue which normally covers the cerebral hemispheres
bull antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
DDx of acrania
bull Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum)
bull congenital hypophosphatasiabull achondrogenesisbull severe osteogenesis imperfecta - additional
findings such as bowing shortening or fractures of long bones often aid in distinction from acrania
bull calvarial defect(s) due to an amniotic band
