Abstract

Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic dysregulation characterized by alveolar hypoventilation.

Aim: The purpose was to show heterogeneous clinical patterns of CCHS.

Methods: Retrospective analysis covered medical records of three patients diagnosed with CCHS by genetic testing. Clinical evaluation included cardiac evaluation, rectal biopsies and urinalysis of catecholamine levels. Life-threatening cardiac arrhythmias were indications of pacemaker implantation. All patients had confirmed alveolar hypoventilation on transcutaneous capnometry and severe central sleep-disordered breathing on sleep studies.  

Results: The first subject with an early onset of disease was tracheostomized in neonatal age and ventilated invasively. Malignant cardiac arrhythmias led to fatal outcome at the age of six months. The second patient had thrombosis of dural venous sinus with spontaneous resolution. Significant ventricular pauses alongside bradycardia resulted in pacemaker implantation. At the age of six years she was successfully extubated and non-invasive ventilation (NIV) was initiated. These two patients had a typical expression of Haddad syndrome during infancy with consequent colectomy. The third child presented lately by the age of four years with pulmonary hypertension without intestinal or cardiac rhythm disturbances. Despite inadequate adherence at early stage, NIV led to a reduction of pulmonary hypotension.   

Conclusion: CCHS remains a complex condition with mandatory multidisciplinary treatment. Chronic home mechanical ventilation during sleep is necessary. A timely switch from invasive ventilation to NIV is the preferred option.