YES I SENT AN EMAIL TO THE DOCTOR AND HOSPITAL - IF THEY READ IT, GREAT!
My expert diagnosis - ROHHAD not LO-CHS/HD....but that's my opinion. You can read the entire article HERE.
THE KUWAIT MEDICAL JOURNAL
Late Onset Central Hypoventilation Syndrome with Hypothalamic Dysfunction in a Kuwaiti Girl
Othman A Aboushanab, Saad A Alotaibi, Yasser A Shaalan
Department of Pediatrics, Farwaniya Hospital, Kuwait
Kuwait Medical Journal 2007, 39 (4): 376-378
Late onset central hypoventilation syndrome (LO-CHS) is now considered a well-established disease that develops in previously normal children after infancy and has been regarded as a distinct entity from the congenital central hypoventilation syndrome (CCHS). Both conditions are associated with neural crest tumours, but hypothalamic dysfunction (HD) is a feature of LO-CHS and not CCHS. We report a case of LO-CHS with HD (LO-CHS / HD) who presented in respiratory failure at the age of five years.
Congenital central hypoventilation syndrome (CCHS) is characterized by abnormal autonomic control of breathing that results in severe hypoventilation occurring initially during sleep. It was first described in children by Mellins et al in 1970. In most cases the onset of CCHS occurs in the neonatal period or during the early months of life. A form of LO-CHS has been described in the literature. Katz et al proposed that late onset central hypoventilation syndrome associated with hypothalamic dysfunction (LO-CHS/HD) is a distinct clinical syndrome. Both CCHS and LO-CHS have been associated with neural crest tumours and they generally occur in a histologically normal central nervous system (CNS). Both conditions have also been associated with PHOX2B gene mutation. HD has been frequently associated with LO-CSH but not CCHS. We report on a case of LO-CSH/HD presenting in a five year-old Kuwaiti girl.
This Kuwaiti girl was five years old when she was first admitted to our pediatric department in coma, with marked hypoxemia and respiratory failure. She was successfully resuscitated and transferred to ICU for mechanical ventilation. Initial blood gas showed acute on top of chronic respiratory acidosis.