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Nallegowda syndrome, a disorder discovered in India

A newly discovered disorder is due to be named after the Indian doctor who discovered it. Nallegowda syndrome is named after its discoverer, a doctor from Karnataka: Dr Mallikarjun Nallegowda. It is a rare congenital condition with a host of bizarre symptoms.

Copyright: somartin / 123RF Stock PhotoDr Nallegowda is from Holalkere in Chitradurga district and studied at Bangalore Medical College during the 1990s. In 2002, Nallegowda came across a 12 year old boy with a range of symptoms while working at the outpatient department of All India Institute of Medical Sciences (AIIMS), Delhi.

The symptoms were both extreme and diverse. Dr Nallegowda discussed his observations in an email to the Times of India

“The boy had a radial clubhand, a high-arched palate and didn’t have a left thumb. There was increased distance between his eyes, his heart sounds were audible on the right side of the chest; he was urinating from the middle undersurface of his penis and had a deformed spine. X-rays confirmed absent radial bones and missing bones in his hands and spine. A chest X-ray confirmed his heart was located on the right side. Tests suggested his right kidney was in an unusual location. He was found to have two urethras,”

Such a range of symptoms is highly suggestive of a developmental disorder, typically caused by genetic defects and present from birth. Chromosomal tests were performed on the boy, and the results did not match any known genetic condition.

After further research Dr Nallegowda presented the case at the annual conference of Indian Association of Physical Medicine and Rehabilitation. Alongside this, a research paper titled

“A case of dextrocardia, radial ray malformation and renal anomaly” was published in 2003. References to the disorder at this point within databases were “Acrorenal Syndrome – Nallegowda type” and “Nallegowda – radial defects; renal anoms; dextrocardia” in the Australian and London based genetic and dysmorphology databases respectively.

Despite the confirmation that the disease does not match with any currently known genetic defects, it is unknown which genes or chromosomes are causing the abnormalities. This is often the case with rare conditions as there may not be enough known sufferers of the condition to perform multiple in depth genetic sequencing to identify common mutations.

It is commonplace for a disorder or disease to be named after its discoverer, after more patients were discovered with the condition at Nottingham Hospital, UK, a second paper was released recommending the condition be named Nallegowda syndrome, after its creator. With further genetic testing more may be revealed about the disease, including its genetic causes. For now, the naming of the disorder after an Indian scientist brings a great deal of prestige to Indian medical research.

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