Patient No. | Sex | Age at MRI (y) | Macrocephaly | Mutation PTEN | Development | Physical Features | WM Cyst | Cyst Location |
---|---|---|---|---|---|---|---|---|
1 | M | 4 | Yes | Yes | Autistic | Abdominal hemangioma | Yes | f,p,t |
2 | M | 0.65 | Yes | Yes | Delay | Café au lait spot, thyroid nodules, testicular hamartomas, rectal and gastric polyps | Yes | p |
3 | M | 2.7 | Yes | No protein | Autistic | Motor speech disorder | Yes | f,p |
4 | M | 3.5 | 90th centile | No protein | Delay | Café au lait spot | Yes | p |
5 | M | 2.6 | Yes | No protein | Delay | Moles, thyroid nodules, intestinal polyps | Yes | p |
6 | M | 7.7 | Yes | No protein | Delay | Moles, thyroid nodules, intestinal polyps | Yes | p |
7 | M | 7.7 | Yes | Yes | Delay | Pigmentation of the glans penis, multiple thyroid nodules, and carcinoma | Yes | f,p |
Note:—f indicates frontal; p, parietal; t, temporal.