Table 1 Summary of all patients with Noonan syndrome-associated PLE identified in the literature (1972–2019)
From: A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy
Cases | Sex | The onset of NS (yr) | The onset of PLE (yr) | Symptoms | Cardiac disorder | TP (g/L) | Alb (g/L) | Transnodal lymphangiography | Treatments | Follow-up |
|---|---|---|---|---|---|---|---|---|---|---|
Matsumoto et al. [19] | F | 17 | 17 | No obvious clinical symptoms | HCM | 31 | 15 | Absent thoracic duct abdominal collateral lymphatics and bilateral iliac lymphangiectasia | Steroid therapy (1 mg/kg/d) Low-fat, protein-rich diet supplemented with medium-chain triglycerides | Relieved |
Mizuochi et al. [20] | F | 1.5 | 8 | Edema, abdominal pain, diarrhea | ASD PVS | 32 | 18 | Spironolactone (2.5 mg/kg/d) Furosemide (2.0 mg/kg/d) | Relieved | |
Keberle et al. [4] | M | 6 | 13 | Edema of abdomen and hydrocele testis | ASD PVS | 32 | 18 | Protein loss from the small intestine | Albumin (2.5 g) Growth hormone | Relieved |
Keberle et al. [4] | M | 19 | 21 | Tibial edema Clubbing | Fallot’s tetralogy | 41 | 26 | Intestinal protein loss predominantly in the ileum | Low-fat, protein-rich diet, medium-chain triglycerides | Relieved |
O’Sullivan et al. [21] | M | 7 | 22 | Diarrhea | PVS | < 20 | Anti-heart failure | Dieda | ||
Herzog et al. [22] | F | 0.9 | 15 | Ankle swelling | ASD PVS | 45 | Hypoplasia of the lymphatics of the extremity and multiple ectatic lymph vessels in the mediastinal area and right supraclavicular area | Medium-chain triglyceride diet | Relieved | |
Vallet et al. [23] | M | 0.3 | 6 | Diarrhea Anasarca, chylorrhea from the inguinal skin | PVS | 38 | 20 | Unavailable | Medium-chain trigIycerides and a low-fat diet | Diedb |
Joyce et al. [24] | F | Unavailable | 27 | Bilateral lower limb and genital swelling | PVS | Unavailable | Unavailable | Lymph reflux/rerouting. R: popliteal LN present. Contrast in vulva and multiple channels in both legs | Low-fat MCT diet | Relieved |
Joyce et al. [24] | M | Unavailable | 55 | Bilateral lower limb and suprapubic swelling | ASD | Unavailable | Unavailable | Unavailable | Unavailable | Unavailable |
Our case | F | 7 | 30 | Extrimitis edema | Fallot’s tetralogy | 31 | 19 | Lymphangiectasis and bilateral widening of the venous angle in the mediastinum and small intestine | Low-fat, medium-chain triglycerides | Relieved |