| | No. | Patient No. | Authors, year | Age/Sex | Height (cm)/Weight (kg)/BMI | Presenting symptoms | Rapid obesity | Hypothalamic dysfunction | Hypoventilation | Autonomic dysregulation | Behavioral changes | Neurologic findings | Neural crest tumor | Other findings | Na (mmol/L) | Prolactin (ng/mL) | fT4 (ng/dL) | Treatment | Outcome |
| | 1 | 1 | Park, 2010 [7] | 13/M | 161/70.6/28 | Pain on both thighs, gait disturbance, general weakness, cold body sensation | No | Yes | Yes | Yes | No | Seizure | Ganglio-
neuroma | Rhabdo-
myolysis | 198 | 35.8 > 13. | 0.5 > 0.8 | Hydration,
IVIG | Alive |
| | 2 | 2 | Thaker,
2015 [12] | 2/M | 163 (11 yr)/166.3 (11 yr)/62 | - | No | No | No | Yes | Yes | No | No | No | Normal | - | 1.04 | - | Alive |
| | 3 | 3 | Gordon,
2015 [13] | 4/F | -/-/- | - | No | DI | Sleep apnea | Yes | No | No | Ganglio-
neuroblast
oma | No | - | Hyper-
prolactinemia | Hypo
-
thyroidism | Caffeine | Alive |
| | 4 | 4 | Tellingen, 2015 [14] | 4/F | -/-/- | Rapid weight gain, growth retardation | Yes | DI | Yes | No | No | No | Ganglio-
neuroma | No | - | - | Hypo
-
thyroidism | - | Alive |
| | 5 | 5 | Grudnikoff,
2013 [15] | 4/F | -/-/- | Weight gain, growth retardation, irritability, aggression | Yes | Yes | Sleep apnea | No | Yes | No | Ganglio-
neuroma | No | - | - | - | - | Alive |
| | 6 | 6 | Patwari, 2011 [16] | 8/F | 150/45>80/36 | - | Yes | Precocious puberty | Sleep apnea | Pupil dilatation | Yes | No | Ganglio-
neuroblast
oma | Pneumonia,
scoliosis | 158 | 56 | - | Artificial
ventilation | Alive |
| | 7 | 7 | Sartori, 2012 [17] | 4/M | -/-/- | - | Yes | Polyuria,
polydipsia | Sleep apnea | Yes | Yes | No | No | No | Normal | Hyper-
prolactinemia | - | IVIG,
artificial
ventilation | Alive |
| | 7 | 8 | Sartori,
2012 [17] | 5/F | -/-/- | - | Yes | Yes | Yes | No | Yes | No | No | No | - | - | Central
hypo-
thyroidism | - | Alive |
| | 8 | 9 | Dhondt,
2013 [18] | 3/F | -/-/- | Stagnation of neurodevelopment,
aggression,
hyperphagia | Yes | Precocious puberty | Yes | Yes | Yes | Yes | No | No | - | - | - | Artificial
ventilation | Alive |
| | 9 | 10 | Bougnères, 2008 [19] | 4/- | -/-22 | - | Yes | Yes | Yes | Yes | Mental retardation,
psychosis | No | Ganglio-
neuroma | No | 156 | 19 | 8.5 | - | Alive |
| | 9 | 11 | Bougnères,
2008 [19] | 3/- | -/-/40 | - | Yes | Yes | Sleep apnea | Yes | Mental retardation | No | Ganglio-
neuroma | No | 161 | 39 | 9.8 | - | Alive |
| | 9 | 12 | Bougnères,
2008 [19] | 3/- | -/-/29 | - | Yes | Yes | Yes | Yes | No | No | Ganglio-
neuroma | No | 150 | 14 | 17.1 | - | Alive |
| | 9 | 13 | Bougnères,
2008 [19] | 3/- | -/-/35 | - | Yes | Yes | Sleep apnea | Yes | No | No | Ganglio-
neuroma | No | 151 | 22 | 16 | - | Alive |
| | 9 | 14 | Bougnères,
2008 [19] | 2/- | -/-/24 | - | No | Yes | Yes | Yes | No | No | Ganglio-
neuroma | No | 145 | 31 | 16 | - | Alive |
| | 9 | 15 | Bougnères,
2008 [19] | 2/- | -/-/44 | - | No | Yes | Yes | Yes | No | No | Ganglio-
neuroma | No | 149 | 34 | 12.4 | - | Alive |
| | 10 | 16 | Paz-Priel,
2011 [20] | 5/F | -/-/17 > 25 | - | Yes | Yes | No | Left exotropia | Aggressive
behavior | No | Ganglio-
neuroblast
oma | No | - | 76.5 | Normal | Cyclophosphamide,
IVIG,
prednisone,
rituximab | Alive |
| | 11 | 17 | Chandrakantan,
2012
[21] | 5/F | 108/29/25 | - | Yes | DI | Yes | Pupil dilatation,
pupil response decrease | No | No | Ganglio-
neuroblast
oma | No | Hyper Na | Hyper-
prolactinemia | - | Artificial
ventilation,
tracheostomy | Alive |
| | 11 | 18 | Chandrakantan,
2012
[21] | 9/F | 137/54/29 | - | Yes | DI | Yes | Chronic constipation,
neurogenic
bladder | No | Developmental
delay | No | No | Hyper Na | - | - | Noninvasive
mask | Alive |
| | 12 | 19 | Kocaay,
2014
[22] | 13/F | 145/69/32 (10 yrs) | Respiratory distress,
cyanosis | Yes | Hypogonadism,
secondary amenorrhea,
precocious puberty | Yes | No | Social withdrawal | Drowsiness | No | Megaloblastic
anemia,
acanthosis
nigricans,
Raynaud
phenomenon | 151 | 1.044 (10 yrs) | 0.88 | - | Alive |
| | 13 | 20 | Sumanasena,
2012 [23] | 10/F | -/35/- | Progressive
respiratory difficulty,
edema | Yes | No | Yes | No | Hallucination | Drowsiness | Ganglio-
neuroma | No | 167 | Normal | - | - | Alive |
| | 14 | 21 | Abaci,
2013 [3] | 3/M | 92 > 95.8 (9 mo)/20 > 25.7 (9 mo)/24>28 | Cyanosis,
recent onset dyspnea | Yes | Polyuria,
polydipsia | Yes | No | Yes | No | Ganglione
Uroblasto
ma | No | 143 | 44.7 | 0.75 | Cyclophosphamide,
IVIG,
dexamethasone,
rituximab | Alive |
| | 15 | 22 | Atapattu,
2015
[24] | 4/F | -/-/- | Excessive weight gain,
increase food seeking,
daytime somnolence | Yes | No | Yes | No | Yes | No | Ganglione
uroma | Celiac
disease | - | - | - | Hypertension
medication | Alive |
| | 16 | 23 | Uçar,
2013
[8] | 6/F | -/-/- | Blurring of consciousness,
recurrent fever | No | GH deficiency | Yes | No | No | Yes | Hamartoma
tous
mass
with neural
elements | No | 152 | 89 | - | Desmopressin acetate,
ventilatory support | Alive |
| | 17 | 24 | Sethi,
2014 [25] | 5/F | 117/25 > 37/14>28 | Behavior outbursts,
poor school performance,
hyperphagia,
fever,
abdominal pain with rectal prolapse | Yes | Yes | No | Bilateral tonic pupils | Yes | No | Ganglione
uroblasto
ma | Metabolic
alkalosis | HypoNa | - | Normal | Endotracheal intubation,
risperidone, benzodiazepines,
antipsychotic medications | Multiorgan failure,
death |
| | 18 | 25 | Gallizia,
2012 [26] | 3/F | -/-/- | Rapid weight gain,
polyuria,
sleep apnea | Yes | Yes | Sleep apnea | No | No | No | No | No | - | Hyper-
prolactinemia | Normal | - | Alive |
| | 18 | 26 | Gallizia,
2012
[26] | 3/F | -/-/- | Rapid weight gain, fatigue,
polydipsia,
syncope episodes,
strabismus,
behavioral problems | Yes | Yes | No | Strabismus | Yes | Yes | No | No | - | Hyper-
prolactinemia | Normal | Mechanical
ventilation | Alive |
| | 19 | 27 | Baronio,
2013
[27] | 1/M | -/-/- | Severe obesity,
hyperreninemic hypertension | Yes | No | No | No | No | No | Ganglione
uroblasto
ma | No | - | - | 0.62 | Mechanical
ventilation,
brain
hypothermia,
steroid pulse | Alive |
| | 19 | 28 | Baronio,
2013
[27] | 2/F | -/-/- | Severe obesity,
hyperreninemic hypertension | Yes | GH deficiency | No | No | No | No | Ganglione
uroblasto
ma | No | - | Hyper-
prolactinemia | 0.17 | Mechanical
ventilation,
brain
hypothermia,
steroid pulse | Alive |
| | 20 | 29 | Chow,
2014 [28] | 15/M | 174/87/29 | Fever, headache,
vomiting,
weight gain | Yes | No | No | No | Irritability, lethargy, somnolence | No | No | No | 150>123 | - | - | Mechanical
ventilation,
IVIG,
methylprednisolone | Alive |
| | 21 | 30 | Kot,
2012
[29] | 9/M | short stature/-/- | Weight gain,
short stature,
hyperphagia,
hypodipsia,
thermal dysregulation,
excessive perspiration,
cold extremity,
livedo reticularis,
sleep apnea | Yes | Hypodipsia, GH
deficiency | Sleep apnea | Yes | No | No | No | No | 161 | Hyper-prolactinemia | Normal | GH replacement | Alive |
| | 22 | 31 | Cemeroglu,
2015 [30] | 5/- | -/-/- | Short stature,
obesity | Yes | DI, GH
deficiency | Sleep apnea | Yes | Flat affect | No | No | Scoliosis | 157>153 | - | 0.9>0.5 | GH
replacement,
levothyroxine, desmopressin,
tonsillectomy,
adenoidectomy, CPAP | Alive |
| | 23 | 32 | Chew,
2011 [31] | 11/M | -/35/26 | Fever, drowsiness,
shallow breathing | No | DI,
hypogonadism | Sleep apnea | Thermal dysregulation,
excessive sweating,
right divergent squint | 0 | Seizure, developmental delay | No | Respiratory
acidosis | 192 | Hyper-prolactinemia | Normal | Anti-epileptics | Alive |
| | 24 | 33 | Petty,
2014 [32] | -/M | -/-/- | Weight gain,
enuresis,
sleep apnea, fever | Yes | No | Yes | Transient visual loss | Hallucination | No | No | Thrombocy
topenia | - | - | - | IVIG,
CPM,
rituximab | Alive |
| | 25 | 34 | Maksoud,
2015
[33] | 6/F | 119/38/27 | Abdominal
mass,
rapid onset obesity | Yes | Premature
thelarche, GH
deficiency | Sleep apnea | Urinary incontinence | No | No | Ganglione
uroma | Hepatitis C | 156 | - | 0.79 | - | Alive |
| | 26 | 35 | Sanklecha,
2016 [34] | 2/F | -/-/- | Gait disturbance,
head jerky movement, nystagmus | Yes | DI, polyuria,
polydipsia | Yes | No | Aggressiveness | Seizure | Ganglione
uroblasto
ma | No | 189>115 | - | - | Chemotherapy,
mechanical ventilation, tracheostomy,
nasal BIPAP,
rituximab, CPM | Cardiac arrest, sudden demise |
| | 27 | 36 | Erensoy,
2016 [35] | 8/F | -/-/- | Overweight,
recession, fatigue,
decreased school success | Yes | No | No | No | Poor school performance, MDD, ADHD | No | No | No | - | - | - | Fluoxetine,
methylphenidate | Alive |
| | 28 | 37 | Al-Harbi,
2016 [36] | 8/F | 126/45/28 | Progressive fatigue,
skin bluish discoloration,
fever | Yes | Breast enlargement | Shortness of breath, sleep apnea | Cold intolerance, excessive sweating,
altered pain sense | Slow mental function, poor school performance, sleepiness | No | No | No | 186 | Hyper-prolactinemia | Normal | BIPAP | Alive |
| | 29 | 38 | Aljabban,
2016 [37] | 4/F | 110/25/- | Rapid weight gain,
excessive eating | Yes | polyuria,
polydipsia | Sleep apnea | Cold extremity,
GI dysmotility | Mood alteration, anxiety, aggressiveness, recurrent fatigue, social withdrawal, sleepiness | Seizure | Ganglio-
neuroma | No | Normal > 162 | - | Normal | Antipsychotics,
mechanical ventilation,
tracheostomy | Cardiac arrest, death |
| | 30 | 39 | Bagheri,
2017 [4] | 5/F | 120/40/- | Cough,
cyanosis | Yes | Central
hypothyroidism | Sleep apnea | Cold extremities, hyperhidrosis, constipation | Mood change | Seizure | Ganglio-
neuroblast
oma | Facial
plethora,
buffalo
neck | 125 | Hyper-prolactinemia | 0.8 | Mechanical
ventilation,
tracheostomy | Alive |
| | 31 | 40 | Galewicz-zielinska,
2012
[38] | 9/- | -/-/- | - | No | No | Mixed sleep
apnea | No | Yes | No | No | Tonsillar
hypertrophy | - | - | - | BIPAP | Alive |
| | 32 | 41 | Jacobson,
2016 [39] | 2/F | -/-/40 | Hyperphagia,
weight gain (16.8 > 35.5 kg) | Yes | Partial
DI | Sleep apnea | Reduced pain perception,
strabismus | Social withdrawal, autism | No | Ganglio-
neuroblast
oma | Papular
rash | - | - | - | Rituximab,
cyclophosphamide | Alive |
| | 32 | 42 | Jacobson,
2016 [39] | 3/M | -/-/34 | Hyperphagia,
weight gain (18 kg for 3 mo) | Yes | Yes | Sleep apnea | excessive sweating,
thermal dysregulation,
enuresis,
altered pain sense,
strabismus | Social withdrawal | No | No | No | - | Hyper-prolactinemia | - | Rituximab,
CPM | Alive |
| | 33 | 43 | Lucas-Herald,
2012 [40] | 1/F | -/32 (3 yr)/22 | Hyperphagia,
food stealing | Yes | Hyper-prolactinemia, GH deficiency, water imbalance | Sleep apnea | Altered pain perception | No | No | No | Renal
failure | 184 | - | - | BIPAP | Alive |
| | 33 | 44 | Lucas-Herald,
2012 [40] | 2/M | -/33/29 | Obesity | Yes | Hyper-prolactinemia, failed GH | Mixed sleep apnea | No | No | No | No | No | - | - | - | BIPAP | Alive |
| | 34 | 45 | Ibanez-Mico,
2017 [41] | 2/F | -/-/- | Obesity,
increased appetite | Yes | Hyper-prolactinemia, Central hypothyroidism
| Sleep apnea | Yes | Aggression, hyperactivity, impulsivity | Yes | No | Altered
pain sense,
GI
dysmotility | 175 | 166 | 1.05 | IVIG, steroids,
cyclophosphamide
Tracheostomy | Sudden death |
| | 35 | 46 | Isasa,
2018 [42] | 10/M | 136/66.5/34.92 | Seizures (hyponatremia) | Yes | Hyper-prolactinemia
Central hypothyroidism | Central hypoventilation
Thermal dysregulation | Polydipsia | Aggressiveness | Yes | No | No | Hyper-/hypo- | - | - | - | Alive |
| | 36 | 47 | Siraz,
2018 [43] | 7/F | 130/61/36.0 | obesity | Yes | Central hypothyroidism
DI, MDD, Central precocious puberty
GH deficiency
Hyper-prolactinemia
Secondary adrenal insufficiency | No | Excessive sweating
hypothermia | No | No | No | Pulmonary hyper-tension
IQ 65 | 156 | 33 | 0.7 | - | Alive |
| | 36 | 48 | Siraz,
2018 [43] | 5/F | 101/31/30.4 | Obesity,
seizure | Yes | Central hypothyroidism
Hyper-prolactinemia | Central
hypoventilation | Yes | Aggressiveness | Yes | No | Central cyanosis
IQ of 3 years of age | 164 | 56 | 0.8 | Tracheostomy | Alive |
|
|
