Dr Mahak Bhasin, Dr Sajitha Nair, Dr Sindhu, Dr Sreya, Dr Jayakumar (Dept of Pediatrics)
More to the story than what meets the eye–
Two and a half year old male child developmentally normal and immunised for age was brought with complaints of loose watery stools not containing blood and non projectile non bilious vomiting of 1 day duration following outside food consumption. GRBS was checked which was found to be 60mg/dL and child was admitted for further management.
This child has dysmorphic features like hypertelorism, flat occiput broad nasal bridge and large tongue
Auxology was normal. There was an umbilical scar present. At presentation, child was also dehydration and irritable with delayed skin turgor.
Further inquiry into the past history revealed important clues. Mother was detected to have polyhydramnios in the first trimester itself with anomaly scan showing an abnormality in the abdomen following which she was referred to a higher centre for delivery. Monthly scans were thus taken and ba was delivered at 36 weeks and 5 days via LSCS in view of this abdominal mass and NPOL with birth Weight of 3.15kgs.
Differentials considered at this juncture were–
Umbilical Hernia
Omphalocoele
Gastroschisis
Edward’s Syndrome
Downs Syndrome
Beckwith Weideman Syndrome
After delievery, ba was shifted to the NICU andon day 1 of life , he was operated for the abdominal mass.
Pediatrics Genetics consult was sought postnatally and 11pMSMLPA was done which found hypomethylation of IC2 region of 11p15 thus suggestive of Beckwith Weideman Syndrome.
Since, then, he has been on follow up with Pediatric Genetics for serial monitoring of AFP levels with 6 monthly USG Abdomen until 9 years of age.
Beckwith Weideman Syndrome is an overgrowth syndrome which occurs with similar preponderance in both genders and caused epigenetic abnormalities in 11p15 chromosomal region most commonly due to epigenetic abnormalities of two imprinting control regions, IC1 and IC2. About 10% of the cases are familial and others are sporadic.
Cardinal clinical features are macroglossia, omphalocoele, hemihypertrophy, wilm’s tumor, hyperinsulinemia, macrosomia, midglabellar capillary malformation, earlobe creases and pits, umbilical hernia, diastasis recti, hepatomegaly, nephromegaly and transient hepatomegaly.
Serial follow ups are required–
1. Neurodevelopmental assessment especially in preterm babies and those with history of hypoglycemia.
2. Abdominal USG every 3 months till 4 years of age and then Kidney USG every 3 months till 7 years of age.
3. AFP levels every 3 months till 4 years of age for early detection of hepatoblastoma.
4. Periodic Chest Xrays and Urinary VMA(Vanilmandelic acid) and HVA(Homovanillic Acid) to screen for neuroblastoma.
5. Urinary Calcium/Creatinine Ratio–annual assessment even in patients with normal USG scans.
6. Annual ECG and cardiac evaluation.
Carry Home Message- Regular Surveillance and proper genetic counselling should be availed in cases of Beckwith Weidemann Syndrome with heightened awareness for risk factors for hypoglycemia.