ALL ABOUT NALLEGOWDA SYNDROME

BENGALURU: In a proud moment for the Indian research community , a rare congenital condition is set to be named after a Karnataka doctor . It’ll be called Nallegowda Syndrome Dr Mallikarjun Nallegowda, from Holalkere in Chitradurga district, studied in Bangalore Medical College in the 1990s and is currently working in Colorado, US. He is said to be the first doctor to notice and write about a rare congenital disorder, whose characteristics are missing hand bones, absence of a thumb, presence of two urethras, increased distance between the eyes and an unusual location of kidney and heart.In 2002, when he was working in Delhi, Dr Nallegowda came across a 12-year-old boy with many problems at the outpatient department of All India Institute of Medical Sciences.“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,” Dr Nallegowda told TOI in an email from Colorado.The boy underwent further diagnostic tests and chromosomal studies, and the findings didn’t match any existing medical condition.The case caught Dr Nallegowda’s attention. He researched the topic and presented the case at the annual conference of Indian Association of Physical Medicine and Rehabilitation. “I wrote a research paper and sent it for publication in ‘Clinical Dysmorphology’, published from the UK. The paper was published in 2003 and I was the first author,” recalled Dr Nallegowda.After the paper’s publication, the rare condition was included in the genetic and dysmorphology (a study of human birth defects) databases. In 2003, Australia’s database — Pictures Of Standard Syndromes and Undiagnosed Malformations — named it ‘Acrorenal Syndrome - Nallegowda type’. The London database called it ‘Nallegowda – radial defects; renal anoms; dextrocardia’.Gabriela Fuchs and colleagues from Nottingham hospital, UK, published an article in ‘Clinical Dysmorphology’ and mentioned a case with the characteristics described by Dr Nallegowda, in addition to other features like cleft lip and palate. They confirmed the existence of this disorder and recommended the condition be called ‘Nallegowda Syndrome’.It’s an established practice to name a disease after the person who first described the condition, typically by publishing an article in a respected medical journal.This disorder’s characteristics include missing hand bones, absence of thumb, radial clubhands, presence of two urethras, increased distance between eyes, cleft lip, cleft palate, abnormal curvature of spine, missing vertebral bones, kidney located in unusual location, cysts in kidney, heart located on the right side, hole in heart and depressed positioning of the ears.It is unclear what causes this. Modern DNA sequencing should help find the reason for this defect occurring at the developmental structures of the embryo.