Table 2.
Summary profiles of aggregate patient data of ROHHADNET syndrome (case-series and cohorts).
| Author, year | N° patients | Age (yr) | Sex (M/F) | Rapid obesity | Hypothalamic dysfunction (N° patients) | Hypoventilation (N° patients) | Autonomic dysregulation (N° patients) | Behavioral changes (N° patients) | Neurologic symptoms (N° patients) | Neuroendocrine tumors (N° patients) | Other findings (N° patients) | Na (mmol/L) (N° patients) | Treatment (N° patients) | Outcome (N° patients) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gil, 2012 [44] | 5 | - | - | Yes | Yes(5), hypothyroidism(1), adrenal insufficiency(1), precocious puberty(1) |
Central apnea(2), transient obstructive apnea(2) | Yes(5) | Yes(2) | No | Ganglio-neuroma (3) |
No | - | - | Death(1) |
|
| ||||||||||||||
| Reppucci, 2014 [45] | 7 | 8.3 (4.7~10.1) |
- | Yes | No | Yes(3), sleep apnea(5) | No | No | No | Yes | No | - | - | Alive |
|
| ||||||||||||||
| Barclay, 2016 [51] | 16 | 4.3 | - | No | Yes(16) | Yes(16), | Yes(16) | No | No | Yes(7) | No | - | Artificial ventilation(16) | Alive |
|
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| Biancheri, 2013 [46] | 6 | - | 2/4 | Yes | Hypothyroidism(5), adrenal insufficiency(2), precocious puberty(2) |
Central apnea(4) | No | Yes(6) | No | No | No | Electrolyte imbalance (6) | - | Alive |
|
| ||||||||||||||
| Napoli, 2014 [47] | 6 | 2~4 | - | Yes | Hypothyroidism(5), adrenal insufficiency(3), precocious puberty(2) |
Central apnea(4) | No | Yes(6) | No | No | No | Electrolyte imbalance (6) | Non-invasive ventilation | Alive |
|
| ||||||||||||||
| Napoli, 2014 [47] | 7 | - | - | Yes(7) | Hypothyroidism(6), adrenal insufficiency(4), precocious puberty(2) |
Sleep apnea(7) | No | Yes(7) | No | Ganglio-neuroma (3) |
No | - | - | Alive |
|
| ||||||||||||||
| Ize-Ludlow, 2007 [6] | 15 | - | 6/9 | Yes(8) | Hypothyroidism(5), adrenal insufficiency(4), precocious puberty(2), delayed puberty(2), amenorrhea(1), irregular menstruation(1), premature adrenarche(2), hypogonadism(1), SIADH(2), polydipsia(8), hypodipsia(4), polyuria(4) |
Alveolar hypoventilation (15). sleep apnea(8), cyanosis(4) |
Ophthalmologic manifestations (13), thermal dysregulation (11), GI dysmotility(10), Altered pain perception(8), altered sweating(8), cold extremity(6) |
Depression(2), flat effect(2), psychosis(2), behavioral outbursts(1), bipolar disorder(1), emotional lability(1), OCD(1), oppositional-defiant disorder(1), Tourette's syndrome(1), hallucination(1) |
Syncope(1), developmental delay(3), regression(3), seizure(5), hypotonia (4) |
Yes(5) | Scoliosis(3), type 2 DM(2), enuresis(4), asthma(3), hyper-somnolence(2), pneumonia(2) | HyperNa (7), hypoNa (2) | - | Cardiac arrest(9) |
|
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| Barclay, 2015 [48] | 35 | - | 14/21 | Yes | Yes(35) | Yes(35) | Yes(35) | No | No | Yes(15) | No | - | Artificial ventilation (35) | Alive |
|
| ||||||||||||||
| Gueorguieva, 2011 [49] | 9 | 0~4 | - | No | Hypogonadism(4) | Yes(9) | Yes(9) | Mental retardation(4) | No | Ganglio-neuroma (6) |
No | Mean 150 | - | Death (2) |
|
| ||||||||||||||
| Abel, 2010 [50] | 4 | - | 1/3 | Yes | No | Alveolar hypoventilation | Thermal dysregulation, cold extremity, altered pain perception | Emotional lability, behavioral outburst | No | No | No | - | - | Alive |