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hdr syndrome ( hypoparathyroidism , sensorineural deafness and renal disease ) is an autosomal dominant condition , defined by the triad hypoparathyroidism , renal dysplasia and hearing loss .
hirschsprung ( hscr ) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction .
rarer chromosomal anomalies are reported in combination with hirschsprung disease like digeorge syndrome , mosaic trisomy 8 , xxy chromosomal constitution , partial duplication of chromosome 2q , tetrasomy 9p , and 20p deletion .
here , we describe an 8 year - old girl with hdr syndrome accompanied by hirschsprung disease . although the association of hirschsprung disease with chromosomal anomalies has been reported , according to our knowledge , this is the first report of associated hscr with hdr syndrome .
hypoparathyroidism , sensorineural deafness and renal disease , also known as hdr syndrome , was first described by barakat et al . in 1977 .
patients usually present with hypocalcaemia , tetany , or afebrile convulsions at any age[24 ] .
renal disease includes nephrotic syndrome , cystic kidney , renal dysplasia , hypoplasia or aplasia , pelvicocalyceal deformity , vesicoureteral reflux , chronic renal failure , hematuria , proteinuria and renal scarring .
this syndrome is primarily caused by haplo - insufficiency of the dual zinc finger transcription factor , gata3 ( glutamyl amidotransferase subunit a ) , or mutations in the gata3 gene , which is contained on the short arm of chromosome 10[9 , 10 ] .
a thorough diagnosis should be performed on every affected individual , and siblings should be studied for deafness , parathyroid and renal disease .
hirschsprung disease ( hscr , aganglionic megacolon ) represents the main genetic cause of functional intestinal obstruction .
the absence of intramural ganglion cells of the myenteric ( auerbach ) and submucosal ( meissner ) plexuses downstream of the dilated part of the colon was recognized as the cause of the disease in 1940 .
this allowed a simple and reliable diagnostic confirmation from rectal suction biopsies using histochemical staining for acetylcholine - esterase .
coding sequence mutations are identified in about 50% of familial and 15% of sporadic hscr cases[12 , 13 ] .
we report a case of hdr syndrome accompanied with hirschsprung disease in an 8 year - old girl . according to our knowledge ,
the patient was an 8 year - old girl referred to our hospital due to recurrent seizures and decreased level of consciousness .
she was the family 's second child born at term by caesarean section ( repeat section ) with birth weight of 3500gr .
she had blue eyes , normal skin and hair pigmentation as well as normal phenotypic features .
when she was 1 month old , she underwent colostomy and at the age of 18 months , a pull - through operation with closure of colostomy was performed . a 101.5 cm portion of small intestine with serosa and mesentry which contained many lymph nodes and a 103 cm portion of colon , inside - out with rough and congested mucosa and abnormal folds was sent for histopathological study .
the report indicated that ganglion cells were present below and also above the aganglionic segment ( zonal colonic aganglionosis ) , although the distal ganglion cells were degenerated .
when 9 months old , she developed microscopic hematuria ; bilateral renal stone was reported in ultrasound study .
although they were without any congenital or developmental disorder , they carried a positive family history of bilateral sensorineural deafness in father 's uncle . at the same time
the patient 's healthy sister showed no congenital or developmental disorder . on primary clinical assessment
, she was 100.0 cm in height and 17 kg in weight [ failure to thrive ; gomez classification : grade ii ; moderate malnutrition , welcome classification : undernutrition and waterlow classification ; percent weight for height ( wasting ) : normal and percent height for age : severe stunting ] , pulse rate 80 beats / min , blood pressure 100/80 mmhg in recumbent position .
laboratory data of our patient with hdr syndrome in kidney and urinary tract sonography , both kidneys were bigger than normal ( right kidney : 86 mm and left kidney : 80 mm ) , with echogenic parenchyma , without hydronephrosis , stone or space occupying lesion
voiding cystourethrogram ( vcug ) showed christmas tree pattern , offering neurogenic bladder , with no vesicoureteral reflux .
on dimercaptosuccinic acid ( dmsa ) scan minimally decrement in cortical function of the upper and lower pole of both kidneys were reported .
the present case was diagnosed as hdr syndrome in association with hirschsprung disease based on the patient 's clinical manifestations and laboratory evaluations ; unfortunately it is analyzed without deletion - mapping studies and subsequent mutation analysis .
hirschsprung disease is the variable congenital absence of ganglion cells from the enteric nervous system resulting degrees of functional bowel obstruction .
hscr occurs as an isolated trait in 70% of patients , in association with a chromosomal abnormality it exists in 12% of cases , and 18% of cases are associated with additional congenital anomalies[11 , 13 ] .
hearing loss in combination with hypoparathyroidism and renal dysplasia was first described in 1977 by barakat et al .
hdr syndrome  and identified the responsible gene map on chromosome 10p[5 , 9 ] .
digeorge syndrome , mosaic trisomy 8 , xxy chromosomal constitution , partial duplication of chromosome 2q , tetrasomy 9p , and 20p deletion , have been observed at least once with hscr[13 , 14 ] .
santos et al reported association of hirschsprung disease with polydactyly , unilateral renal agenesis , hypertelorism , and congenital deafness in sibs ( brother and sister ) of consanguineous parents .
reish et al reported two half brothers ( maternally related ) with similar pattern of malformations including brain anomaly , retardation of mentality and growth , ectodermal dysplasia , skeletal deformities , hirschsprung disease , ear deformity and deafness , eye anomalies , cleft palate / cryptor - chidism , and kidney dysplasia / hypoplasia and reflux .
although the studies mentioned above report the association of hscr with deafness and renal disease , none of them had hypoparathyroidism , so according to our knowledge , this is the first report of hscr associated with hdr syndrome .
hscr , resulting from the effects of at least 9 known susceptibility genes[12 , 14 ] ; one of the chromosomal interstitial deletions reported in combination with hscr is 10q11 , on the other hand , mutations in the gata3 gene , which is located on the short arm of chromosome 10 , cause hdr syndrome .
backgroundhdr syndrome ( hypoparathyroidism , sensorineural deafness and renal disease ) is an autosomal dominant condition , defined by the triad hypoparathyroidism , renal dysplasia and hearing loss . 
 hirschsprung ( hscr ) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction . 
 rarer chromosomal anomalies are reported in combination with hirschsprung disease like digeorge syndrome , mosaic trisomy 8 , xxy chromosomal constitution , partial duplication of chromosome 2q , tetrasomy 9p , and 20p deletion.case presentationhere , we describe an 8 year - old girl with hdr syndrome accompanied by hirschsprung disease . although the association of hirschsprung disease with chromosomal anomalies has been reported , according to our knowledge , this is the first report of associated hscr with hdr syndrome .