Research Article
Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review
Table 3
Clinical presentations of patients with ROHHADNET syndrome (IPD).
| Clinical findings | Total number of patients (n=48) | Number of patients () |
| Rapid obesity | 40 (83.3) | Hypoventilation | 36 (75.0) | Obstructive sleep apnea | 21 (43.8%) | Respiratory distress | 5 (10.4%) | Cyanotic episodes | 4 (8.3%) | Hypothalamic dysfunction | 40 (83.3) | Growth hormone deficiency | 13 (25.3%) | Diabetes insipidus | 9 (18.8%) | Polyuria/polydipsia | 8 (16.7%) | Central precocious puberty | 7 (14.6%) | Hypogonadotropic hypogonadism | 2 (4.2%) | Premature thelarche | 2 (4.2%) | Autonomic dysregulation | 32 (66.7) | Ophthalmologic abnormality | 12 (25.0%) | Altered perception of pain | 6 (12.5%) | Gastrointestinal dysmotility | 6 (12.5%) | Cold extremity | 4 (8.3%) | Neurogenic bladder | 4 (8.3%) | Excessive sweating | 5 (10.4%) | Thermal dysregulation | 3 (6.3%) | Syncope | 1 (2.1%) | Urinary incontinence | 1 (2.1%) | Behavioral disorders | 29 (60.4) | Irritability & aggression | 10 (20.8%) | Fatigue | 4 (8.3%) | Social withdrawal | 4 (8.3%) | Poor school performance | 3 (6.3%) | Intellectual disability | 2 (4.2%) | Mood change | 2 (4.2%) | Flat affect | 2 (4.2%) | Hallucination | 2 (4.2%) | Major depressive disorder | 1(2.1%) | Attention deficit disorder | 1(2.1%) | Psychosis | 1(2.1%) | Neurologic abnormality | 16 (33.3) | Seizure | 7 (14.6%) | Blurring of consciousness | 4 (8.3%) | Sleep disturbance | 3 (6.3%) | Developmental delay | 3 (6.3%) | Gait disturbance | 2 (4.2%) | Nystagmus | 1 (2.1%) | General weakness | 1 (2.1%) | Other findings | | Fever | 6 (12.5%) | Papular rash | 3 (6.3%) | Enuresis | 2 (4.2%) | Scoliosis | 2 (4.2%) | Rhabdomyolysis | 1 (2.1%) | Pneumonia | 1 (2.1%) | Headache | 1 (2.1%) | Megaloblastic anemia | 1 (2.1%) | Thrombocytopenia | 1 (2.1%) | Acanthosis nigricans | 1 (2.1%) | Raynaud phenomenon | 1 (2.1%) | Celiac disease | 1 (2.1%) | Metabolic alkalosis | 1 (2.1%) | Hepatitis C | 1 (2.1%) | Buffalo neck | 1 (2.1%) | Tonsillar hypertrophy | 1 (2.1%) | Abdominal mass | 1 (2.1%) | Renal failure | 1 (2.1%) | Edema | 1 (2.1%) | Pulmonary hypertension | 1 (2.1%) | Cough | 1 (2.1%) |
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