Abstract
BackgroundRapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions. We performed an in-depth clinical comparison of the phenotypes of ROHHAD and PWS and used NGS and Sanger sequencing to analyze the coding regions of genes in the PWS region among seven ROHHAD probands.ResultsDetailed clinical comparison of ROHHAD and PWS patients revealed many important differences between the phenotypes. In particular, we highlight the fact that the areas of apparent overlap (childhood-onset obesity, hypoventilation, autonomic dysfunction) actually differ in fundamental ways, including different forms and severity of hypoventilation, different rates of obesity onset, and different manifestations of autonomic dysfunction. We did not detect any disease-causing mutations within PWS candidate genes in ROHHAD probands.ConclusionsROHHAD and PWS are clinically distinct conditions, and do not share a genetic etiology. Our detailed clinical comparison and genetic analyses should assist physicians in timely distinction between the two disorders in obese children. Of particular importance, ROHHAD patients will have had a normal and healthy first year of life; something that is never seen in infants with PWS.
Highlights
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown
One might consider that ROHHAD bears some similarity to Prader-Willi syndrome (PWS), because both syndromes are marked by childhood obesity [9,10,11]
ROHHAD vs. PWS – Clinical comparison Based on literature reviews and our own clinical observations and experience we compared the typical presentation of each condition
Summary
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions. Caused by a lack of the paternal contribution of genes on chromosome 15q that are normally maternallyimprinted (i.e. silenced on the maternally-derived chromosome), PWS presents first with neonatal hypotonia, poor feeding and poor growth, followed by rapid weight gain in early childhood and compulsive food seeking behaviors in later childhood [9,10,11,12]. The presentation of PWS is highly variable, and can include the following additional symptoms: sleep-disordered breathing, hypopigmentation, small hands and feet, strabismus, reduced visual acuity, scoliosis, hip dysplasia, osteopenia, seizures, decreased saliva volume, altered pain perception, altered temperature perception, high vomiting threshold, skin picking, and easy bruising [10]
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