|
| Age | Clinical features | Laboratory data | Normal values |
|
| At birth | Intrauterine growth retardation | Glycemia 12 | 3.9–7 mmol/L |
|
| 1 week | Morphological characteristics
Elfin face, low-set ears, broad nasal tip, and thick lips with broad mouth
Hypertrichosis
Emaciation with adipose tissue and muscular hypotrophy
Organomegaly (tongue and external genitalia)
Distended abdomen
Small chest
No acanthosis nigricans | Insulin 972
C peptide 3.46
IGF1 12
IGFBP3 0.35
GH 26
Leptin <1 | 2–13 mU/L
0.37–1.47 nmol/L
18–156 µg/L
0.7–1.4 mg/L
<17 mU/L
2.45–8 ng/mL |
|
| 2 weeks | Gastrointestinal and nutritional findings
Poor weight gain
Hepatic dysfunction
Pancreatic deficiency
Feeding difficulties
Hematemesis
Progressive abdominal distension | ALT 172
AST 232
Total bilirubin 105
Conjugated bilirubin 34 | <50 IU/L
10–50 IU/L
<17.8 µmol/L
<3.4 µmol/L |
Renal findings
Electrolyte abnormalities
Nephrocalcinosis | Prothrombin time 17 (51%)
Albumin 24
Lipase 14 | 12–13 s
29–44 g/L
151–238 U/L |
Cardiac findings
Severe left ventricular Hypertrophy | Fecal elastase 132
Na 132
K 2.7
Mg 0.55
Proteinuria 67
Urinary Ca/Cr ratio 0.5 | >200 µg/g
135–145 mmol/L
3–5.4 mmol/L
0.66–1.07 mmol/L
0 mg/dL
0.33 |
|
| 11 weeks | Gastrointestinal findings
First episode of intestinal obstruction
Duodenogastric intussusception | Glycemia between 4 and 10
No hypoglycemia | |
Cardiac findings
Obstructive hypertrophy | | |
Neurological findings
Moderate axial hypotonia | | |
|
| 14 weeks | Multiorgan impairment
Second episode of intestinal obstruction with cardio-respiratory distress and death | Glycemia 5 | |
|
