Case Report Hirshsprung S Disease with Sensorineural Hearing Loss (SNHL)

Case Report – Hirshsprung’s disease with Sensorineural Hearing Loss (SNHL)

Authors: Vykuntaraju K.N*, Bharat Reddy

* Assistant Professor of Pediatric Neurology, Division of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore.

Central IAP No- L/2006/R-1047( )

Subspecialty: Genetics

No of Words: 250

Corresponding author Dr.Vykunta Raju K.N Consultant Pediatric Neurologist, Bangalore Child Neuro and Rehabilitation Center

HANS complex, 8/A 1st main 1st cross,

Manuvana, Near Adhichunchanagiri Choultry,

Vijayanagar, Bangalore, 560040, Karnataka, India E-mail: [email protected], [email protected] Phone: Landline-080-23301212 Phone number: +91-9535212556

Introduction

Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Sensorineural deafness had been reported with this disease.

Case Report A 1 year 6 month old male child presented with complaints of inability to walk and hearing difficulty. He was able to sit and stand with support since 1 year 3 months, but was not able to walk with support. He was able to hold objects. He recognizes his parents but did not wave Bye- bye. No language milestones were attained, with parents complaining that he did not respond to his name or loud noises. In the past, he had been operated for Hirschsprung disease.

On examination, the child was active, conscious and oriented. His head circumference was 44.5 cm, and was well nourished. CNS examination revealed hypotonia in all 4 limbs with diminished reflexes and a power of 3/5 in all 4 limbs. BERA shows bilateral profound hearing loss.

Discussion

About 30% of the 120 million people worldwide who suffer from congenital hearing loss are syndromic. A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease caused by endothelin receptor type B and SOX10 has been reported. Our child underwent surgery for Hirschsprung disease during newborn period later presented with not able to speak. Evaluation shows that he had severe sensory neural hearing loss.

Conclusion

Newborns with Hirschsprung disease should be screened for hearing impairment to detect early deafness and intervention.