Abstract
A 37-year-old woman with a family history of Alport's syndrome was reported. Her initial symptom was bilateral hearing loss, which occurred at the age of 7. Proteinuria was discovered at the age of 17. At age 32, ptosis of the upper lids developed, which was followed by weakness of extremities, gait disturbances and urinary incontinence. On admission she was emaciated severely and showed proximal dominant muscular atrophy and weakness in all extremities. Prominent ptosis and severely limited eye movement in all directions without paralysis of the intra-ocular muscles were recognized. She was deaf completely and deep reflexes in all extremities were diminished or absent. She could walk without a support, but showed truncal ataxia. Laboratory examinations revealed abnormal findings in GTT and high level of serum CPK. Brain CT scan showed a marked decrease in density in the cerebral white matter, resembled to that seen in patients of leukodystrophy, but EEG was normal and no mental deterioration was found. Biopsied muscle showed intermingled findings of the neurogenic and myogenic changes without ragged-red fibers, and no mitochondrial abnormality was found on an electronmicroscopical examination.
In references of Alport's syndrome, we could not find the case with ptosis and/or external ophthalmoplegia. And many symptoms and findings seen in this case resembled closely to those of Kearns-Shy syndrome (KSS). Therefore we would report this case as KSS-like syndrome without a mitochondrical abnormality with a family history of Alport's syndrome.
