Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease
Author(s): M Dejhalla ; P Parton ; S G Golombek 
Congenital central hypoventilation syndrome (CCHS) is defined as the failure of automatic control of breathing, present from birth in absence of pulmonary, cardiac, neuromuscular and identifiable brainstem lesion.
Congenital central hypoventilation syndrome (CCHS) is a very rare entity, characterized by adequate ventilation during wakefulness and by hypoventilation during sleep. More severely affected individuals hypoventilate, both when awake and asleep. Genetic etiology is strongly suspected.[1, 2] Lifetime ventilation support is required to maintain adequate oxygenation. Other autonomic nervous system dysfunctions, tumors of neural crest origin (such as neuroblastoma, ganglioneuroma and ganglioneuroblastoma) and Hirschsprung's disease are often found in affected children. [3, 4, 5, 6] CCHS associated with Hirschsprung's disease is known as the Haddad syndrome. It is named after the author who first described three newborns with absent control of breathing and Hirschsprung's disease.  We report a newborn admitted with respiratory distress and Hirschsprung's disease who was subsequently diagnosed with Haddad syndrome.
Following an uneventful pregnancy, a full-term, male infant was born by elective C-section to a 31-year old Gravida 2 Para 1 mother. Family history was non-contributory. Apgar scores were 6 and 9 at first and fifth minute, respectively, and birth weight was 3035 g. Shortly after birth, the baby presented with shallow breathing, apnea, duskiness and O2 saturation between 70 and 80%. The rest of the physical exam was normal. Respiratory distress was initially managed with nasal CPAP and oxygen supplement. Antibiotics were started for presumed sepsis. On the second day of life, the baby was placed on mechanical ventilation and started on caffeine. Worsening of respiratory distress presented in the form of apneic spells, which were presumed to be due to abdominal distention. On the third day of life, the baby developed transient lethargy, poor suck and decreased muscle tone. Hematologic profile, blood chemistry and ammonia levels were normal. Blood and cerebrospinal fluid cultures were negative. Chest and abdominal X-ray were normal except for nonspecific dilated intestinal loops. Head CT scan was normal. Over the first 3 days of life the baby had increasing abdominal distension, passed only smears of meconium and developed greenish gastric drainage. The baby was...
This is a preview. Get the full text through your school or public library.