This document describes a case of a 4 hour old preterm female infant born with a swelling on her back. X-rays revealed kyphosis of the lumbar spine and butterfly vertebrae from D4 to D9, along with widening of the posterior vertebral elements. This was diagnosed as rachischisis with paraparesis, which is a neural tube defect where the folding and closure of the neural tube fails during development, resulting in a cleft or gap in the spine. Neural tube defects can be caused by genetic and environmental factors like folic acid deficiency, and the best prevention is taking folic acid supplements before and during early pregnancy.
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Spotter from nicu
1. SPOTTER FROM NICU
Under the guidance of
Dr. Suresh Kumar
Professor of Neonatology
Dr.J.N. George
Associate professor
Dr.N.Ravi kumar
Associate professor
Dr. Ayesha
Assistant professor
Dr. Veda vyasa
Assistant professor
2. 4 hrs old, Preterm 34wks, female child, AGA, NVD
brought with c/o
Swelling over the back
3. MATERNAL HISTORY
Not a booked case
No h/o drug intake
No h/o PIH / DM / hypothyroidism / poly or
oligohydromnios
No h/o fever with rash
4.
5.
6. A 6X4 cm swelling with variable consistensy in the
lumbosacral area surrounded by hair and a mid
line cleft with palpable bony structures
7. Baby warm, CFT<3sec,
H.R.-138/min
R.R-58/min
Absent movements of lower limbs and flexed
posture
Bilateral air entry present, normal vesicular
breath sounds heard
S1S2 present no murmurs present
Abdomen soft and no organomegaly present
13. Median hinge point forms (probably due
to signaling from notochord) –columnar
cells adopt triangular morphology (apical
actin constriction, like a purse string)
Lateral hinge point forms by a similar
mechanism (probably due to signaling
from nearby mesoderm).
As neural folds close, neural crest
delaminates and migrates away (more on
that later…)
Closure happens first in middle of the
tube and then zips rostrally and caudally
14. Neurulation:
folding and closure of the neural plate
Folding and closure of the neural tube occurs
first in the cervical region.
The neural tube then “zips” up toward the head
and toward the tail, leaving two openings which
are the anterior and posterior neuropores.
The anterior neuropore closes around day 25.
The posterior neuropore closes around day 28.
15. Primary Neurulation :
Brain and spinal cord upto S2 level
Secondary Neurulation :
Caudal to S2 and filum terminale
INCEDENCE of NTD : 1-6 per 1000 pregnencies
16. Errors in Neurulation:
Neural Tube Defects (NTDs)
Rachischisis: failure of neural tube folding.
Anencephaly: failure of the anterior neuropore
closure.
Spina bifida: failure of posterior neuropore
closure and/or vertebral development.
NTDs have many genetic and environmental
causes, but strongest correlation is folic acid
deficiency.
Best prevented by taking 400 ug folic acid
(1000ug if family history of NTDs) daily 3 months
prior to conception and throughout pregnancy.
17.
18. Diagnosis :
Open ntd can be diagnosed by measuring afp in
maternal blood stream(75%) or amniotic
fluid(98%)
Fetal ultrasound can detect both open and closed
ntd
Open ntd:anencephaly,spinal rachischisis,spina
bifida aperta,encephalocele
Closed ntd:spina bifida
occulta,diastematomyelia,sacral
agenesis,tethered spinal cord