Dr Anakha V Ajay ,Dr Jayasree Dr Perraju DrAshwin Dr Lakshmi Dr Smriti(Dept of Neonatology) Dr C Jayakumar( Dept of paediatrics), AIMS, Kochi
A female neonate born to twenty year old primimother (non consanguineous couple) at 39 weeks 4 days. Antenatal scans revealed bilateral enlarged head completely fluid filled with no intact cerebral cortex or cortical tissue .
No family history of genetic or congenital anomalies. No history of smoking mother and nil history suggestive of congenital infections or exposure to toxins
Delivery was via elective caesarean section, as extraction of ba was difficult. Forceps were applied twice. Ba did not cry at birth, cyanosed with heart rate less than 100 and no active efforts of respiration noted. Bag and mask ventilation was initiated. After two min of bag and mask, ba cried and became pink. APGAR score 2/9 at 1/5 min Ba was shifted to NICU on T piece resuscitator with PEEP 6.
On examination, anterior fontanelle bulging and wide with wide posterior fontanelle. Cry and activity fair.
Auxology: Head circumference -42 cm > 97th centile(Macrocephaly). Weight- 3.300 kg (between 25-50 percentile) Length- 49 cm(50-75th percentile).
Vital signs, heart rate of 166bpm, saturation of 80 % on room air. Moros and rooting reflex was absent.Systemic examination was within normal limits.
Ba was admitted to NICU and was started on CPAP with PEEP 6. Ba was started on IV fluids and other supportive medications. ECHO done was normal. NSG done which showed entire supratentorial cavity filled with fluid with non visualisation of cerebral hemispheric parenchyma. Interhemispheric falx seen. Posterior fossa structures visualised, however small in size MRI Brain showed Non visualized cerebral hemispheres bilaterally ,entire supratentorial cavity filled with fluid intensity with presence of midline falx, in keeping with hydranencephaly.No cortical mantle peripherally. Residual tissue of thalami and right occipital lobe visualized. Posterior fossa structures are present, posterior fossa small. Features are in keeping with hydranencephaly. MRI Brain confirmed antenatal scan findings. Neurosurgery consult was availed and advised no intervention and explained the prognosis to the parents. Ba was gradually weaned off to nasal cannula at 0.5L. As we tried to wean off the ba further from oxygen support multiple times, ba developed respiratory distress, hence plan was to continue on nasal cannula .IV fluids were slowly tapered and feeds were slowly introduced through orogastric tube.
Condition of the child was explained to the standers and hence a DNE DNR consent obtained.Child is on nasal canula(0.5L) and orogastric feeds.
MRI BRAIN SHOWING FLUID FILLED CRANIUM
Hydrancephaly(HE) is a very rare brain anomaly characterised absence and replacement of the cerebral hemispheres with cerebrospinal fluid, and typically occurs in isolation and usually results in intrauterine death.The most common causes of HE are occlusion of the supraclinoid segment of the bilateral internal carotid arteries or an extreme state of leucomalacia caused fusion of multiple cystic spaces.Other etiologies are due to exposure to toxic substances during pregnancy.The majority of cases of HE are detected in the second half of pregnancy.Sonographic assessment is sufficient for the prenatal diagnosis of HE in most cases and MRI or an intrauterine CT should be used to support the sonographic
It has poor prognosis as majority of brainstem functions are missing .Affected newborns can die at birth, but most infamts die within first year of life. If a child does survive they will inevitably behandicapped. Because of poor prognosis, termination of pregnancy is recommended once a definitive diagnosis has been established. If macrocrania is identified in late pregnancy then cephalocentesis may be suggested as an option to aid the delivery
TAKE HOME MESSAGE:An early diagnosis is also fundamental for preparing the optimal conditions of delivery and allowing for a specialised pediatricdelivery unit to be on hand for the delivery.