Sunday, March 1, 2009

The Kuwait Medical Journal - CCHS or LO-CHS/HD or ROHHAD

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.

December 2007

THE KUWAIT MEDICAL JOURNAL
Case Report

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

ABSTRACT
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.

INTRODUCTION
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[1]. In most cases the onset of CCHS occurs in the neonatal period or during the early months of life[2]. A form of LO-CHS has been described in the literature. Katz et al[3] 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[4]. 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.

CASE REPORT
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.

2 comments:

  1. LO-CHS/HD is the same thing as ROHHAD. The disorder was just re-named. Dr. Weese-Mayer and a colleague decided on the change and suggested it in an article they wrote. But, it would be better if the doctors there would call it ROHHAD so that girl's family can find others with the same disorder so they can gather information like we are doing here. Maybe since you've emailed the doctor, they will put the girl's parents in touch with you. We can only hope.

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  2. Hi....yes it is the same thing but I prefer her diagnosis be officially ROHHAD - or the parents are looking up the wrong info and not getting everything they need. :)

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