Eur J Pediatr DOI 10.1007/s00431-013-2171-8
CASE REPORT
An unusual cause of fetal hypomobility: congenital central hypoventilation syndrome associated with hirschsprung disease Sybille De Montpellier & Yves Sznajer & Jeanne Amiel & Genevieve Francois & Marie-Cecile Nassogne & Christian Debauche & Isabelle Scheers
Received: 19 July 2013 / Accepted: 30 September 2013 # Springer-Verlag Berlin Heidelberg 2013
Abstract Co-occurrence of congenital central hypoventilation syndrome and Hirschsprung disease is known as Haddad syndrome. Affected patients develop with variable expressivity a dysfunction of the autonomic nervous system. We report the natural history of a full-term newborn infant presenting multiple features of autonomic system dysfunction that were already noted antenatally. The presence of a nonpolyalanine repeat expansion mutation in the PHOX2B gene confirmed postnatally the diagnosis of Haddad syndrome. This case suggests that patients presenting with autonomic system dysfunction may already present signs of the disease during the fetal period.
S. De Montpellier : G. Francois General Pediatrics and Sleep Disorders Unit, Cliniques Universitaires Saint-Luc, Brussels, Belgium Y. Sznajer Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium J. Amiel Université Paris 5-Descartes, Faculté de Médecine, INSERM U-781, AP-HP, Hôpital Necker-Enfants Malades, Paris, France M.
CASE REPORT
An unusual cause of fetal hypomobility: congenital central hypoventilation syndrome associated with hirschsprung disease Sybille De Montpellier & Yves Sznajer & Jeanne Amiel & Genevieve Francois & Marie-Cecile Nassogne & Christian Debauche & Isabelle Scheers
Received: 19 July 2013 / Accepted: 30 September 2013 # Springer-Verlag Berlin Heidelberg 2013
Abstract Co-occurrence of congenital central hypoventilation syndrome and Hirschsprung disease is known as Haddad syndrome. Affected patients develop with variable expressivity a dysfunction of the autonomic nervous system. We report the natural history of a full-term newborn infant presenting multiple features of autonomic system dysfunction that were already noted antenatally. The presence of a nonpolyalanine repeat expansion mutation in the PHOX2B gene confirmed postnatally the diagnosis of Haddad syndrome. This case suggests that patients presenting with autonomic system dysfunction may already present signs of the disease during the fetal period.
S. De Montpellier : G. Francois General Pediatrics and Sleep Disorders Unit, Cliniques Universitaires Saint-Luc, Brussels, Belgium Y. Sznajer Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium J. Amiel Université Paris 5-Descartes, Faculté de Médecine, INSERM U-781, AP-HP, Hôpital Necker-Enfants Malades, Paris, France M.
