SPOTTER FROM NICUUnder 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

4 hrs old, Preterm 34wks, female child, AGA, NVD brought with c/oSwelling over the back

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

A 6X4 cm swelling with variable consistensy in the lumbosacral area surrounded by hair and a mid line cleft with palpable bony structures

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

X-RAY LS SPINE

Kyphotic lumbar spine D4, D6 – D9 vertebrae showing saggital cleft

s/o butterfly vertebrae Widening of posterior elememnts of

vertebrae

NSG

Prominent lateral ventriclesSmall posterior fossa

DISCUSSION

DIAGNOSIS

RACHISCHISIS WITH PARAPARESIS

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

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.

Primary Neurulation : Brain and spinal cord upto S2 levelSecondary Neurulation : Caudal to S2 and filum terminale INCEDENCE of NTD : 1-6 per 1000 pregnencies

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.

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

Thank you..!!