BIOMAT Database Logo BIOMAT Database Logo

Haddad syndrome--congenital central hypoventilation associated with Hirschsprung's disease. 2003

Susan D'Souza, and R P Khubchandani
Jaslok Hospital and Research Center, Peddar Road, Mumbai, India. susandoctor@hotmail.com

The combination of Congenital Central Hypoventilation with Hirschsprung's disease belongs to the family of diseases now designated as Neurocristopathies. The authors report a polysomnographically documented case and review literature on this disorder.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D006627 Hirschsprung Disease Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON. Aganglionosis, Colonic,Colonic Aganglionosis,Megacolon, Congenital,Aganglionic Megacolon,Aganglionosis, Rectosigmoid Colon,Aganglionosis, Total Colonic,Congenital Intestinal Aganglionosis,Congenital Megacolon,Hirschsprung's Disease,Megacolon, Aganglionic,Rectosigmoid Aganglionosis,Total Colonic Aganglionosis,Aganglionosis, Rectosigmoid,Disease, Hirschsprung,Disease, Hirschsprung's,Hirschsprungs Disease,Rectosigmoid Colon Aganglionosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D017286 Polysomnography Simultaneous and continuous monitoring of several parameters during sleep to study normal and abnormal sleep. The study includes monitoring of brain waves, to assess sleep stages, and other physiological variables such as breathing, eye movements, and blood oxygen levels which exhibit a disrupted pattern with sleep disturbances. Monitoring, Sleep,Somnography,Polysomnographies,Sleep Monitoring,Somnographies
D017809 Fatal Outcome Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal
D020182 Sleep Apnea, Central A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration. Apnea, Sleep, Central,Central Sleep Apnea,Hypoventilation, Central Alveolar,Ondine Syndrome,Sleep-Disordered Breathing, Central,Apnea, Central,Apnea, Central Sleep,Central Alveolar Hypoventilation Syndrome,Central Sleep Apnea Syndrome,Central Sleep Apnea, Primary,Central Sleep Apnea, Secondary,Central Sleep Disordered Breathing,Newborn Primary Sleep Apneas,Primary Central Sleep Apnea,Primary Sleep Apneas of Newborn,Secondary Central Sleep Apnea,Sleep Apnea, Lethal Central,Sleep Apnea, Newborn, Primary,Alveolar Hypoventilation, Central,Alveolar Hypoventilations, Central,Apneas, Central,Apneas, Central Sleep,Breathing, Central Sleep-Disordered,Breathings, Central Sleep-Disordered,Central Alveolar Hypoventilation,Central Apnea,Central Apneas,Central Sleep Apneas,Central Sleep-Disordered Breathing,Central Sleep-Disordered Breathings,Hypoventilations, Central Alveolar,Sleep Apneas, Central,Sleep Disordered Breathing, Central,Sleep-Disordered Breathings, Central

Related Publications

Susan D'Souza, and R P Khubchandani
Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease.
April 2006, Journal of perinatology : official journal of the California Perinatal Association,
Susan D'Souza, and R P Khubchandani
Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.
January 2015, Journal of neonatal-perinatal medicine,
Susan D'Souza, and R P Khubchandani
Congenital central hypoventilation syndrome and Hirschsprung's disease.
April 1998, Archives of disease in childhood,
Susan D'Souza, and R P Khubchandani
Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.
September 2016, Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo,
Susan D'Souza, and R P Khubchandani
Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.
March 2008, Journal of child neurology,
Susan D'Souza, and R P Khubchandani
Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies.
January 2002, Pediatric pulmonology,
Susan D'Souza, and R P Khubchandani
Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs.
April 1989, Journal of medical genetics,
Susan D'Souza, and R P Khubchandani
Clinical letter: epidural analgesia in a newborn with Hirschsprung's disease, associated with congenital central hypoventilation syndrome.
December 2000, European journal of anaesthesiology,
Susan D'Souza, and R P Khubchandani
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.
June 2005, Pediatrics,
Susan D'Souza, and R P Khubchandani
Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways.
October 2001, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie,
Copied contents to your clipboard!