Table 1.
Initial and multisystem involvement
| First symptom (%) | All patients (%) | Renal damage patients (%) | |
|---|---|---|---|
| n = 52 | n = 52 | n = 13 | |
| Neurologic symptoms | 36 (69.2) | 51 (98.1) | 13 (100) |
| Epilepsy | 8 (15.4) | 4 (7.7) | 0 |
| Motor delay | 1 (1.9) | 2 (3.8) | 0 |
| Psychomotor delay + epilepsy | 0 | 10 (19.2) | 2 (15.4) |
| Encephalomyopathy | 0 | 24 (46.2) | 9 (69.2) |
| – Seizures (first year of life) | 10 (19.2) | 0 | 0 |
| – Psychomotor delay or hypotony | 17 (32.7) | 0 | 0 |
| Language disorder | 0 | 5 (9.6) | 1 (7.7) |
| Othersa | 0 | 6 (11.5) | 1 (7.7) |
| Hearing loss | 0 | 5 (9.6) | 2 (15.4) |
| Ophthalmologic symptoms | 2 (3.8) | 18 (34.6) | 5 (38.5) |
| Ptosis | 2 (3.8) | 4 (7.7) | 2 (15.4) |
| Squint | 0 | 2 (3.8) | 1 (7.7) |
| Ophthalmoparesis + pigmentary retinitis | 0 | 4 (7.7) | 1 (7.7) |
| Ophthalmoparesis | 0 | 2 (3.8) | 0 |
| Visual deficit | 0 | 2 (3.8) | 1 (7.7) |
| Optic atrophy | 0 | 2 (3.8) | 0 |
| Myopia magna | 0 | 1 (1.9) | 0 |
| Cataracts | 0 | 1 (1.9) | 0 |
| Gastrointestinal symptoms | 3 (5.8) | 16 (30.8) | 6 (46.2) |
| Failure to thrive | 1 (1.9) | 6 (11.5) | 4 (30.8) |
| Gastroesophageal reflux | 0 | 2 (3.8) | 0 |
| Pancreatitis | 1 (1.9) | 3 (5.8) | 1 (7.7) |
| Liver disease | 1 (1.9) | 3 (5.8) | 1 (7.7) |
| Vomiting | 0 | 2 (3.8) | 0 |
| Endocrinological symptoms | 1 (1.9) | 20 (38.5) | 7 (53.8) |
| Short stature | 0 | 15 (28.8) | 5 (38.5) |
| Diabetes mellitus | 1 (1.9) | 2 (3.8) | 0 |
| Early puberty | 0 | 2 (3.8) | 1 (7.7) |
| Hypocalcemia | 0 | 1 (1.9) | 1 (7.7) |
| Cardiac symptoms | 1 (1.9) | 6 (11.5) | 1 (7.7) |
| Rhythm abnormalities | 0 | 3 (5.8) | 0 |
| Cardiomyopathy | 0 | 3 (5.8) | 1 (7.7) |
| Sepsis episodes | 3 (5.8) | N/A | N/A |
| Renal affectation | 1 (1.9) | 13 (25) | 13 (100) |
| Unknown | 5 (9.6) | N/A | N/A |
N/A not applicable
aMigraine; Ataxia; Leukodystrophy and hemiplegic migraine; Spinocerebellar syndrome; Oculomotor apraxia and myopathy