How to assess multiple congenital anomalies in children?
Q: My son was born with multiple congenital deformities. 1. unequal eyes, 2. undescended testes, 3. six fingers in right hand, and 4. widely spaced nipples. TORCH titre and blood & urine routine and cultures are normal. The MRI report reads: Nodular lesions along the lateral wall of the lateral ventricles and both frontal horns suggestive of heterotopias. The ill-defined enhancing lesion in the left pons is suggestive of a capillary telangiectasia. A left cerebellar venous angioma is noted. Bera studies : Evidence of a severe cochlear defect bilaterally. ERG studies: Normal; mild disturbance in central visual path in right side. Parents think that the hearing defect is not so profound because the child is conscious of noises in the surroundings. The eye defect is more prominent because the child is not able to focus eyes. He turns his head towards source of sound but cannot focus eyes (roving movement of eyeballs). Parents marriage is a distant marriage and there is no history of such defects in family. Query: 1. Chances of leading a normal and independent life and 2. Future development of brain.
A:This baby has multiple congenital anomaly. We should do chromosomal analysis to rule out chromosomal aberrations and also for future genetic counselling. Regarding this baby, it seems the child has signficant neurological involvement and future proper development of brain is to be assessed as the child grows but going by the investigations it seems likely that brain may not be able to grow to its full potential and child is likely to live with a significant sequelae. Chances of this baby leading a normal and independent life would depend on the functional development of the brain. But usually babies who are born with these kind of congenital brain defects have very high chances of having abnormal neur--ological development and generally would have some degree of developmental slowing, may have seizures and other neurological problems.