Table 2 Summary of the clinical findings in 20 adolescents and adults with HPE
# | Sex/age | Age at diagnosis | Sz | VP shunt | G-tube feeding | Scoliosis | DI | SNHL | Eye exam | Other | Height (m)/BMI | HC (cm) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M/17 | 6 m | − | − | − | + | − | − | Crowded discs and optic atrophy | Congenital scoliosis, hemivertebrae, missing ribs, mood disorder | 1.55/21 | 53 |
2 | M/24 | 2 m | − | − | − | + | − | − | Cortical visual impairment | 1.39/24 | 47.5 | |
3 | F/33 | Birth | − | + | − | + | − | − | Cortical visual impairment | Parietal encephalocele, nephrolithiasis | 1.27/16 | 47 |
4 | F/15 | Birth | +a | + | + | + | − | + | Hypoplastic optic nerves, dry eyes, ptosis | Parietal encephalocele, scarring alopecia, precocious puberty, temp dysregulation | 1.27/17 | 42 |
5 | F/19 | Birth | + | + | + | + | Mild | − | Dry eyes, ptosis | Cholelithiasis, narcolepsy | 1.46/22 | 50.5 |
6 | F/33 | Birth | +a | + | + | + | − | + | Cortical vision impairment, optic atrophy | Parietal encephalocele | 1.41/NA | 49 |
7 | F/20 | 1 y | + | − | − | Mild | − | + | Dry eyes, microcornea | GH deficiency, hypothyroidism, OCD, ADD, leg length discrepancy | 1.51b/28 | 55.5 |
8 | M/19 | 1 m | − | − | + | + | + | + | Cortical vision impairment, hypertelorism, bilateral retinal degeneration | Ulcerative colitis, ectopic left kidney | 1.65/12 | 55.5 |
9 | F/19 | Birth | + | + | − | + | − | − | Ptosis, strabismus | Parietal encephalocele, hypotelorism, absent nasal bone | 1.6/NA | 54 |
10 | F/17 | 3 y | − | − | − | Mild | − | − | Hyperintense foveal anomaly | 1.55/20 | 51 | |
11 | F/27 | 17 y | − | − | − | + | − | − | Hypotelorism, strabismus, mild cataracts | Cholelithiasis, anosmia, missing teeth, single central incisor, hypotelorism. | 1.5/19 | 52 |
12 | F/23 | 1 y | − | − | + | + | Mild | + | Retinal coloboma, no vision on right side | OCD, mood disorder, cyclic vomiting, insomnia | 1.5/35 | 46 |
13 | M/22 | Birth | − | + | + | Mild | + | + | Hypothyroidism | NA/NA | NA | |
14 | F/18 | Birth | + | − | + | − | + | − | Hypotelorism, small optic nerves | Cholelithiasis, fatty liver per US, cleft lip and palate, absent nasal bone, hypothyroidism | 1.45/28 | 51 |
15 | F/27 | 1 y | + | − | + | + | + | − | Horseshoe kidney | NA/NA | NA | |
16 | F/23 | 18 m | +c | − | + | + | − | − | Dysplastic cortex with polymicrogyria | 1.41/19 | 47.5 | |
17 | M/28 | Birth | − | + | + | + | − | − | 1.42/23 | 52 | ||
18 | F/20 | Birth | − | − | − | Mild | − | − | − | Cleft lip and palate, absent nasal bone, hypotelorism, mood disorder, psychosis, ADD | 1.62/13 | 49 |
19 | F/32 | 3 m | + | − | + | + | Mild | − | − | Recurrent pancreatitis, paralytic ileus, sinus tachycardia, tracheostomy, temperature dysregulation | 1.54/23 | 51 |
20 | M/27d | Birth | − | + | + | + | + | − | Strabismus | Reactive airway disease and recurrent aspirations | 1.52/24 | NA |
