TABLE II.
Clinical Features and Testing Results of Patients With Pheochromocytoma and Isolated Hemihyperplasia or Beckwith–Wiedemann Syndrome
| This report | Schnakenburg et al. [1976] | van den Akker et al. [2002] | Bemurat et al. [2002] | Baldisserotto et al. [2005] | Wilson et al. [2008] | |
|---|---|---|---|---|---|---|
| Gender | F | M | F | F | M | F |
| Birth weight | 4,347 g | 4,600 g | 1,310 g at 34 weeks | Not reported | 3,700 g | <97th |
| Clinical diagnosis | IH | IH | IH | Asymmetric BWS | Asymmetric BWS | BWS |
| Age at IH/BWS diagnosis | 4 months | Birth | Birth | Birth | Birth | Not reported |
| Hemihyperplasia (side) | Right | Right | Right | Right | Right | Not reported |
| Age at diagnosis of pheochromocytoma | 1 year, 6 months | 11 years | 12 years | 20 years | 6 years | 8 years |
| Pheochromocytoma | Bilateral | Right unilateral | Bilateral | Bilateral | Bilateral | Bilateral |
| Pheochromocytoma | MEN2A/B, VHL, RET | None | MEN2A/B (blood) negative | None | None | Not reported |
| testing | (blood) negative | VHL, RET (tumor) negative | ||||
| BWS testing | Methylation negative | None | Methylation negative | None | None | KvDMR Hypomethylation H19DMR Hypermethylation |
| 11p UPD | Yes | Unknown | Unknown | Unknown | Unknown | Yes—genome-wide |
| Other features | Umbilical hernia | Macroglossia | Hypoglycemia | Hypoglycemia | Hypoglycemia | |
| Hemangioma | Metopic ridge | Omphalocele Hepatomegaly |
Nephromegaly Umbilical hernia |
Macroglossia Umbilical hernia Hepatosplenomegaly |
F, female; M, male; BWS, Beckwith–Wiedemann syndrome; IH, isolated hemihyperplasia.