TABLE 1.
Clinical profile of ROHHAD cohort.
| Patient No. (Age at Onset & Sex) | Age (yrs) ROHHAD suspected | Age (yrs) at Sample Collection | Age at Onset Obesity (z‐score) | Respiratory phenotype | Endocrinop‐athies | Autonomic Dysfunction | Tumor Type (age at identification) | CSF Results | Outcome |
|---|---|---|---|---|---|---|---|---|---|
| 1 (2yrF) | 9 | 10.1 (CSF), 10.6 (Serum) |
2 yr (Z = +2.7 at 9y) |
CSA, 24 hour HV | Yes | Yes |
Ganglio‐neuroma (9 yr) |
1 WBC/m3, 8 RBC/m3, 0 OCBs |
Alive, 17yr |
| 2 (5yrF) 37 | 6 | 6.0 (CSF), 6.0 (serum) |
5 yr (Z = +2.9 at 6 yr) |
Night‐time HV |
Yes | Yes |
Ganglio‐neuroma (6 yr) |
0 WBC/m3, 54 RBC/m3, 0 unique CSF OCB |
Alive, 13yr |
| 3 (2yrM) | 3 | 3.2 (Serum)4.0 (CSF) | 2 yr (Z = +5,2at 2y) | CSA, 24 hour HV | Yes | Yes | Neuro‐blastoma (3 yr) |
5 WBC/m3, 525 RBC/m3, 13 OCBs at diagnosis; 4 OCB after 10 months; 2 OCB and neopterin of 75 (el) after 2.5 years) |
Sudden death 8yr |
| 4 (2yrM) | 2 | 2.7 (Serum)2.7 (CSF), 2.6 (Tumor) | 2 yr (Z = +2.1 at 2y) | CSA, 24 hour HV | Yes | Yes | Ganglio‐neuro‐blastoma (2 yr) |
4 WBC/m3, 2 RBC/m3, 2 OCBs (nl), neopterin 20 (nl) |
Alive 4yr |
| 5 (3yrM) | 3 | 3.8 (Serum)3.8 (CSF), 3.8 (Tumor) | 3 yr Z = +5.2 at 3y) | CSA, 24 hour HV | Yes | Yes | Ganglio‐neuro‐blastoma (3yr) |
0 WBC/m3, 0 RBC/m3, 0 OCBs, Neopterin 41 (nl) (repeat after 5.5 months similar) |
Alive 5yr, severely debilitate‐ed, immobile, severe behavior problems |
| 6 (3yrM) | 5 | 5.2 (CSF), 5.2 (Serum) | 3 yr(Z = +3.9 at 5y) | 24 hour HV | Yes | Yes | Ganglio‐neuro‐blastoma, intermixed (5yr) |
36 WBC/m3, 0 RBC/m3, 0 OCBs, Neopterin 94 (el) |
Alive 6yr |
| 7 (2yrF)7 | 4 | 11 (Serum) | 2 yr | OSA | Yes | No | Ganglio‐neuro‐blastoma (3 yr) | Not tested | Alive 11yr |
| 8 (3yrF)1 | 8 |
24.1 (Serum)25.2 (CSF) |
3 yr |
24 hour HV |
Yes | No | Ganglio‐neuroma (7 yr) |
2 WBC/m3, 60 RBC/m3, 141 protein, 0 OCBs, Neopterin 21 (nl) |
Alive 30yr |
| 9 (3yrM) | 12 | 7.5 (Serum) | 3 yr (Z = +4.7 at 4y) |
CSA, 24 hour HV |
Yes | No | None (abdomen not imaged) |
2 WBC/m3, 31 RBC/m3, 0 unique CSF OCB, Neopterin 76 (el) |
Sudden death 13yr |
CSF = Cerebrospinal Fluid, CSA = central sleep apnea, el = elevated, HV = hypoventilation, nl = normal, OCB = Oligoclonal Band, OSA = Obstructive Sleep Apnea, Yr = years. *All tested CSF had normal protein, glucose and IgG index values except where noted. #Endocrine and other symptomatic treatment not recorded. Further details on ROHHAD phenotypes in supplemental tables.