Bizarre baby with a rare genetic disorder takes birth in Bengal’s Howrah District
An infant with a very rare Harlequin ichthyosis disorder took birth in West Bengal’s Howrah district on Tuesday.
An absolute rare genetic disorder, Harlequin ichthyosis is found in 1 out of 3,00,000 live births. It affects an infant’s skin to become very hard and distorted and develop diamond-shaped fissures in it.
It is an autosomal recessive disease mainly because of consanguineous marriage where people are married within their family or among their relatives.
The infant was born on 14th July in a private nursing home near the West Bengal state Secretariat in Howrah.
The mother had visited a private nursing home with complaints of stomach pain.
Gynaecologist Nuja B. Komal treating the mother of the baby diagnosed with the disorder informed, “She had not done any tests or anomaly scans in the 9 months and only came with other complains at the end of 9 months.“
“Her belly had grown to be quite large and she had other conditions of polyhydramnios and placenta previa. I had her USG done again. There was some suspicion that the child may have some connective tissue disorder. But this was shocking and unexpected.” She added.
The parents are being counselled so that they accept the child and so far parents have accepted to keep the child.
However, as Dr Komal informs, the infant has really low chances of survival.
“There is a very low chance of survival for the baby Around 0 to 5%. We have referred the baby to higher medical treatment. Parents are also being counselled that they transfer the baby to Medical College for research purposes. They are a little scared and want to keep the baby with themself. In case the baby expired they are willing to give the baby for research.” she said.
Although this came as a shock to the doctors after operating the mother, and the condition of the baby wasn’t good, the 4-day old infant is in a slightly better condition now despite facing feeding problems.
Babies with this disorder did not survive after the first few days of birth in the past. However, with medical advances, such children can now lead fulfilling lives.
“This is a very rare disorder. It is known as Harlequin Ickthiosis which is a rare autosomal genetic disorder. I have gone through the literature and I have seen to the main reported cases are mainly around 200 to 250 but whether this is the first case in Bengal I can’t be sure.” The doctor added.