exencephaly..case
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A 30-year-old female came in for a routine obstetrical examination at 17 weeks of gestation. An ultrasound revealed her fetus had exencephaly, a lethal brain anomaly where the skull vault is absent and brain tissue protrudes out. Exencephaly occurs when the neural tube fails to close properly early in development. It is characterized by absence of the skull and herniated brain tissue dangling in the amniotic fluid. As exencephaly is essentially a lethal condition, the parents were advised to terminate the pregnancy.
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spina bifida.pptx
Spina bifida is a birth defect where the spinal cord fails to fully develop. It can range in severity from spina bifida occulta, which involves an unclosed vertebra but no neural tissue issues, to more severe forms like myelomeningocele where the spinal cord and membranes protrude out of the back. The most common location is the lumbar region. Hydrocephalus, an excess of cerebrospinal fluid in the brain, often develops due to obstruction from the Arnold-Chiari malformation, where the cerebellum is pushed down through the skull. Proper closure of the neural tube during embryonic development from days 18-26 of gestation is required to prevent spina bifida.
Neural tube defects: Importance of Folic Acid and Vitamin B12 intake
Birth defects are a global problem, but their impact is particularly severe in middle and low income countries where more than 94 percent of the births with serious birth defects and 95 percent of the deaths of these children occur. Serious birth defect can be lethal. For those who survive, these disorders can cause lifelong mental, physical, auditory or visual disability. The report shows that at least 3.3 million children under five years of age die from birth defects each years. More than 70% of birth defects can be prevented. Educate the community about the birth defects and the opportunities for effective care and prevention.
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This case report describes the excision of an extreme occipital encephalocele in a 4-month-old patient. Neurological and radiological examinations including CT scan and MRI were performed to assess the size and contents of the sac, as well as any other brain anomalies or vascular abnormalities. The encephalocele sac contained cystic structures and was excised surgically, removing nonviable neural tissue while repairing the dural defect. Most patients who undergo excision develop post-operative hydrocephalus requiring treatment. At 15-month follow-up the patient had visual and growth issues but was alive, with the goal of treatment being to achieve the highest level of function and independence.
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Imaging of congenital CNS lesions
This document discusses normal brain development from embryology through childhood. It covers topics like dorsal induction forming the neural tube, ventral induction forming the face and brain, neuronal proliferation and migration, and myelination. It then discusses various congenital brain lesions that can occur due to disruptions during development, including holoprosencephaly, septo-optic dysplasia, neuronal migration disorders, corpus callosum agenesis, arachnoid cysts, and hydranencephaly. Imaging features of these conditions are also summarized.
congenitalmalformationofcns-100618013845-phpapp01.pdf
The document describes various congenital malformations of the nervous system categorized by ICD-10 codes, including:
- Q00 which includes anencephaly and similar malformations where the brain and skull are malformed and portions of the brain may be reduced or absent.
- Q01 which includes encephalocele where brain tissue or meninges protrude through skull defects.
- Q05 which includes spina bifida where there are defects of the spinal column that result in protrusion of meninges or spinal cord tissue.
It then provides further details on specific malformations like anencephaly, encephalocele, spina bifida, and other disorders of brain development including lissencephaly
HYDROCEPHALY.ppt
This document discusses hydrocephalus, defined as disproportionate increase in cerebrospinal fluid (CSF) within the cranium. It occurs in 3-4 per 1000 births and can be congenital or acquired. There are two main types - communicating and non-communicating - depending on whether CSF circulation or absorption is impaired. Clinical manifestations vary by age but include head enlargement, irritability, vomiting, and neurological deficits. Diagnosis involves measuring head growth curves and imaging tests like CT and MRI to identify ventricle size and site of obstruction.
ULTRASOUND EXAMINATION OF INFANT SPINE - STEP BY STEP
Ultrasonography is a useful first-line screening tool for evaluating the neonatal spine and detecting spinal dysraphism and other pathologies. It can accurately identify abnormalities of the spinal cord, meninges, vertebrae and surrounding tissues without the need for sedation or radiation. The optimal time to perform spinal ultrasound is before 6 months of age when the posterior vertebral elements are still cartilaginous. The technique involves surveying and then detailed scanning of the cord, cauda equina, filum terminale, conus position and bony structures to identify any variations from normal anatomy.
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exencephaly..case
- 1. بسم الله الرحمن الرحيم
- 2. 30year old female came for routine obstetrical examination, her fetus of 17 wk gestational age
- 4. Ultrasound examination reveal active single viable fetus with absence of skull vault ,the brain is preserved …..
- 5. jaw
- 6. Brain tissue Brain tissue
- 7. exencephally • is a lethal congenital fetal brain developmental anomaly (neural tube defect) • 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.
- 8. Radiographic features • Imaging features have some overlap with that of anencephaly except that there is some brain tissue presence. • cranial vault is absent or poorly formed. Nasal bone may be absent in most cases. • brain tissue is herniating or dangling in amniotic fluid. • brain tissue may be attached to the amniotic membrane
- 9. Treatment and prognosis • Exencephaly is a precursor to anencephaly, and essentially a lethal condition. Advise and counseling for abortion is to be given to the parents.
- 10. DDx: • Acrania is a rare lethal congenital anomaly characterized by an absence of the calvarium but almost all brain tissue present • The condition is thought to result from abnormal migration of mesenchymal tissue, which normally covers the cerebral hemispheres • antenatal ultrasound allows diagnosis from 11 weeks onwards(As the ossification of the fetal cranium begins and accelerates after 9 weeks)
- 11. DDx of acrania • Meroacrania preservation of occipital bone (sometimes considered as part of acrania spectrum) • congenital hypophosphatasia • achondrogenesis • severe osteogenesis imperfecta - additional findings such as bowing, shortening, or fractures of long bones often aid in distinction from acrania. • calvarial defect(s) due to an amniotic band