External progressive ophthalmoplegia secondary to mitochondrial myopathy. Report of a case and review of the literature

Progressive limitation of occular motility, accompanied by ptosis but usually without diplopia, occurs in many pathologic states, including mitochondrial diseases. A case with chronic progressive external ophthalmoplegia with onset during childhood, associated with proximal myopathy and dysphasia is presented. The muscle biopsy showed a myopathic pattern and abnormal subsarcolemmal mitochondrial deposits. Muscle biopsy for important in the correct diagnosis of this entity.     

Acute bulbar palsy due to myelomeningocele and Chiari II malformation

We describe a case of a 10-year-old girl with myelomeningocele and type II Chiari malformation. She presented with an acute bulbar palsy requiring mechanical ventilation. Surgical decompression of the brainstem was performed and, because of a phrenic nerve palsy, surgical plication of the right diaphragm was also required. The patient s evolution was favourable. We discuss the various forms of clinical presentation of this pathology as well as its management. The importance of early diagnosis and surgical correction are also stressed as a key factor for favourable evolution.