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Tiago Rito 1, Fátima Abreu2

1 - Interno de Cardiologia Pediátrica do Hospital Santa Marta
2 - Assistente Hospital Graduada de Pediatria Médica da Unidade de Pneumologia Pediátrica

- CIPP XIII .- Bruges( Absrtract e Poster) - June 26-29, 2014
- Sessão Geral do HDE- Unidade de Pneumologia - 28 /10/2014

In all children with evidence of hypoventilation, without a primary cardiopulmonary, metabolic, neuromuscular or brainstem dysfunction, a diagnosis of congenital central hypoventilation syndrome (CCHS) should be considered. We report 2 paradigmatic cases of central hypoventilation with different forms and timings of presentation. CCHS is a rare disorder, presenting mostly in the neonatal period, characterized by the failure of automatic control of breathing. It is caused by mutations in the PHOX2B gene, which also plays a role in neural crest cell migration, hence the autonomic nervous system dysregulation (ANSD), particularly Hirshprung’s disease, identified in some patients in addition to the hypoventilation.
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a different and even less common syndrome, for which there is no genetic mutation identified.
We report the cases of 2 children with central hypoventilation treated in this center. One is a 5-year-old girl, who presented in the newborn period with episodes of cyanosis, apnea and, later, the diagnosis of Hirshprung’s disease, requiring mechanical ventilation and parenteral nutrition in the first days of life. A 29 polyalanine repeat expansion mutation (PARM) was later identified in the PHOX2B gene. This patient was never tracheostomized, and, in order to ensure adequate ventilation during sleep, is ventilated using bi-level positive airway pressure ventilation (BIPAP) via full face mask. The other patient is a 10-year-old boy, with a history of normal development until the age of 3. He then stopped achieving psychomotor developmental milestones and consecutively developed hyperphagic obesity, hypersomnolence, disordered temperature, altered sweating, gastrointestinal dysmotility, strabismus, behavioral disorder, sodium and water dysregulation, central hypothyroidism, recurrent respiratory tract infections and alveolar hypoventilation, leading to the diagnosis of ROHHAD syndrome. The cerebral spinal fluid (CSF) neurotransmitter analysis showed reduced levels of serotonin metabolites, which was also reported in a ROHHAD case in Southeast Asia. Both the alveolar hypoventilation and the psychomotor disorder improved significantly with positive pressure ventilation (PPV) via tracheostomy.

Palavras Chave: Hipoventilação; central ;congénita; disautonomia; ventilação