A practising neurologist K. Hemanth Kumar has come across a case of a life-threatening rare disease-mucopolysaccharidoses (MPS Type-I) in a 6-year-old female (name withheld) from Budhwarpeta in Kurnool.
The daughter of a fruit seller and daily labourer, the girl has been unable to walk even after completing three years of age, he said, adding that the girl also had a small increase in the circumference of her head.
Her parents visited many hospitals, but different symptoms began to emerge at a slow pace. Following several investigations and laboratory tests, it was established that the girl was having Type-I mucopolysaccharidosis, said Dr. Hemanth Kumar.
