Diverse clinical features of mitochondrial disease
| Central nervous system | Strokes Seizures Neurological/developmental regression Neuroradiological features |
| Peripheral nervous system | Peripheral neuropathy |
| Eyes | Ptosis Ophthalmoplegia Nystagmus Visual disturbance Retinitis pigmentosa |
| Hearing | Sensorineural deafness/hearing impairment |
| Endocrine | Growth hormone deficiency Thyroid or parathyroid dysfunction Multiple hormonal deficiencies |
| Pancreatic | Diabetes mellitus Exocrine insufficiency |
| Hepatic | Liver failure |
| Gastrointestinal | Enteropathy, dysmotility, pseudo-obstruction |
| Muscular | Myopathy |
| Haematological | Anaemia Marrow failure |
| Renal | Tubular dysfunction Progressive renal impairment Steroid-resistant nephrotic syndrome (primary coenzyme Q10 deficiency) |
| Cardiac | Conduction defects Cardiomyopathy |
| Dermatological | Hypertrichosis Pili torti (some complex III assembly defects) |
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