Table 2.
Clinical Features of Diencephalic Syndrome and Our Patients
| Clinical Features | Diencephalic Syndrome | Case 1 | Case 2 | Case 3 |
|---|---|---|---|---|
| Age at onset of fat loss | <2 y | 5 mo | 3 y | At birth |
| Age at diagnosis, y | <2 | 6 | 5.5 | 7.3 |
| Generalized loss of sc fat | + | + | + | + |
| Emaciation | + | − | − | − |
| Prominent musculature | − | + | + | + |
| Appetite | ↓ | ↑ | N | N |
| Hepatosplenomegaly | − | + | − | +a |
| Precocious puberty | − | + | + | − |
| Dyslipidemia | − | − | − | +b |
| Glucose intolerance | − | + | − | +b |
| Reversal of symptoms with therapy | Unknown | + | + | + |
Abbreviations: N, normal; −, absent; +, present.
a
Hepatic steatosis in neonatal period noted on ultrasound.
b
Dyslipidemia and hyperglycemia in neonatal period, diet controlled later.