Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome.
OBJECTIVE
To report the association of tonic pupil, congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome.


METHODS
Case reports.


RESULTS
Two infants with central hypoventilation syndrome and Hirschsprung disease were evaluated for dilated, nonreactive pupils present since birth. In both cases, pharmacologic testing with dilute pilocarpine confirmed denervation supersensitivity consistent with tonic pupil. The diagnosis of congenital neuroblastoma was subsequently established in both infants.


CONCLUSIONS
The close association of these conditions in these two young children supports the concept of a common neural crest abnormality being present. A careful systemic evaluation to rule out congenital neuroblastoma should be performed in any young child who presents with tonic pupil in the setting of central hypoventilation syndrome and Hirschsprung disease.
Lambert
S R
SR
Emory Eye Center, Emory University School of Medicine, Atlanta, Georgia 30322, USA. slamber@emory.edu
Yang
L L
LL
Stone
C
C
D000310:Adrenal Gland Neoplasms / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009447:Neuroblastoma / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D020182:Sleep Apnea, Central / Q000150:complications* / Q000175:diagnosis; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D015845:Tonic Pupil / Q000150:complications* / Q000175:diagnosis