Table 1

Summary of clinical details of 41 cases of Hirschsprung’s disease–congenital hypoventilation syndrome association

Author	Sex	Gest age	HSCR diagn	Age vent	Length affected	Eye/ear/neurological/ autonomic	Neuroblastoma/other	Family history	Outcome	Ref
Haddad	F	37 wk	7 d	Hours	DC +	?	No	Sib	Died 2 months	2
Haddad	F	37 wk	5 d	3 h	TCA	Hypotonia; fits; GOR1-150	No	Sib	Died 5 months	2
Haddad	F	Term	10 d +	Minutes	Ileal	Hypotonia; fits	Ganglioneuroblastoma^†	No	Died 2 months	2
Bower	M	Term	3 d	Day 2	Sigmoid or less	Episodes diaphoresis	Neuroblastoma	?	Died 9 months	41
Stern	M	Term	3 d	Day 1	Ileal	No	No	No	Died 15 months	42
Guilleminault	M	Term	4 d	4 d	TCA	Hypotonia	No	?	Died 24 days	6
Guilleminault	M	Term	2 d	2 d	TCA	Fits	No	No	Alive at 24 months	6
Petterson	M	?	?	?	TCA	?	No	?	Died 4 weeks	7
O’Dell	M	Term	21 d	Birth	Ileal	?	No	?	Alive 5 months	8
Poceta	F	Term	14 d	<1 h	PJ^††	Ocular; BAER; hypotonia; fits	?	?	Died 40 days	9
Poceta	M	Term	2 d	Birth	TCA	Hypotonia; fits	?	?	Died 30 months	9
Sato	M	?	?	?	Trans colon	No	No	?	Alive 8 months	10
Roshkow	M	Term	?	?	MJ	No	No	No	Died 3 months	11
Roshkow	M	34 wk	?	?	Ileal	No	No	Stillborn sibs	Alive at 13 months	11
Roshkow	M	Term	?	?	PJ	No	No	?	Died 15 days	11
Weese-Mayer	?	?	?	?	TCA?	?	?	?	?	12
Weese-Mayer	?	?	?	?	TCA?	?	?	?	?	12
Levard	F	?	?	?	Trans colon	?	Ganglioneublastoma	?	?	13
Levard	M	?	?	?	TCA	?	Ganglioneublastoma	?	?	13
Hamilton	F	Term	7 d	6 h	Rectum	Esotropia	?	Half sib	Alive 54 months	3
Hamilton	M	Term	4 d	Birth	Rectum	?	No	Half sib	Alive 30 months	3
Minutillo	F	39 wk	3 d	8 h	Ileal	Ocular	Facial dysmorphism	No	Died 19 days	14
Gaisie	M	Term	5 d	Birth	?	?	Neuroblastoma	?	Died 7 months	15
Fodstad	F	Term	3 mo	20 mo	Rectum	No	No	No	Alive	16
Fodstad	F	?	1 mo	Birth	RS	Hypotonia, fits	No	No	Alive	16
Fodstad	M	36 wk	3 d	Day 1	Duodenum	No	No	No	Died 1 months	16
Mukhopadhyay	F	35 wk	Days	Birth	?	A-V malformation^‡‡; hypotonia; fits	No	?	Alive at 36 months	17
El-Halaby	F	Term	13 d	Hours	Ileal +22cms	Ocular; mild hypotonia; fits	No	No	Alive at 57 months	18
El-Halaby	F	Term	16 d	11 h	R-S junction	Ocular; mild hypotonia	?	No	Alive at 17 months	18
El-Halaby	F	Term	20 d	4 h	SF	Ocular	ASD	No	Alive at 7 months	18
Verloes	F	38 wk	?	15 h	Trans colon	Fits^**	Facial dysmorphism	No	Alive 2 years	19
Verloes	M	Term	4 d	4 d	TCA	GOR	No	No	Died 5.5 years	19
Stovroff	F	Term	1 d	Birth	Ileum	Ocular	Neuroblastoma	?	Died 2 months	20
Nakahara	M	37 wk	19 d	2 h	Trans colon	?	No	?	Alive at 13 months	21
Commare	M	Term	?	Birth	?	BAER; motility^‡	?	?	?	22
Commare	F	Term	?	Birth	?	BAER; multiple^§	Neuroblastoma	?	?	22
Commare	M	Term	Days	4 d	?	BAER; multiple^¶	?	?	?	22
Commare	F	Term	?	18 h	?	Ocular; motility‖‖	?	?	?	22
Barber & Scobie	M	37 wk	>3 d	4 h	> TCA	Fits	No	No	Alive at 7.5 years	23
Barber & Scobie	F	Term	18 d	?	Sigmoid	No	No	No	Alive at 16 months	23
Kincaid	?	41 wk	2 mo	Day 1	TCA	?	No	?	?	24
Croaker	f	Term	3 d	Birth	Sigmoid	Heart rate; GOR	Scalp xanthoma	No	Alive at 47 mo
Croaker	f	Term	3 d	12 h	TCA	Ocular ; convulsions; GOR	No	No	Alive at 61 mo
Croaker	M	Term	36 h	3 h	Sigmoid	Ocular; heart rate; GOR	No	No	Alive at 19 mo
Croaker	F	35 wk	5 d	Birth	TCA?	Ocular; heart rate; absent swallow	Multiple perirenal masses.^§§	No	Died 10 days
Croaker	M	Term	36 h	30 min	Sigmoid?	BAER; heart rate; fits	No	No	Died 19 days

↵1-150 Also had abnormal oesophageal motility, and gastro-oesophageal reflux on barium swallow, and lack of heart rate variability. ^†Also had idiopathic septal hypertrophy and subaortic stenosis. ^‡Oesophageal dyskinesia and achalasia. ^§Ocular abnormalities; heart rate changes; megaoesophagus; excessive perspiration. ^¶Cardiovascular instability; oesophageal dyskinesia and gastro-oesophageal reflux. ‖‖Oesophageal dyskinesia and gastro-oesophageal reflux. ^**Also had recurrent hypoglycaemic episodes. ^††Abnormalities of myenteric plexus even in proximal jejunum; abnormal peristalsis noted throughout gut. ^‡‡Arteriovenous malformation involving both lobes of cerebellum, raises the question whether this child has true primary CCHS. ^§§Including dysmorphic facies. ASD = atrial septal defect; BAER = (abnormal) brain stem auditory evoked response; DC = descending colon; GOR = gastro-oesophageal reflux; PJ = proximal jejunum; SF = splenic flexure; TCA = total colonic aganglionosis. Summary(for those whose details are known)—sex: 51.2% male; gestation: 90% term (37 weeks or more);length: 60% total colonic aganglionosis or longer;mortality: 51.4% alive at time of reporting; neural crest tumour: 7 (+ 1 possible) reported: 7/43 = 16.3%