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.     

Regional lymphadenopathy in cat-scratch disease: ultrasonographic findings

Background. Cat-scratch disease (CSD) is considered to be an emerging disease worldwide and is caused by Bartonella henselae, a gram-negative bacterium introduced by a scratch or bite of a cat. The most common clinical manifestation is regional lymphadenopathy, but clinical recognition may be difficult, as atypical manifestations may occur. The diagnosis is confirmed with serologic testing and histology is rarely needed. This paper is based on our experience with the use of ultrasonography in the diagnosis of CSD.¶Objective. The aim of this study was to describe the sonographic and color Doppler appearances of regional lymphadenopathy in CSD, as this has not widely reported in the literature. ¶Materials and methods. Forty-seven patients (average 9.4 years) were included who all had serologically and/or histologically proven CSD and had been studied using US early in the clinical course. All had a positive history of exposure to cats and exhibited regional lymphadenopathy.¶Results. US showed large hypoechoic adenopathy with some transmission enhancement and high vascularization on color-flow Doppler imaging. In 30 patients, abdominal US was also performed and splenic and/or hepatic granulomata were found in 10.¶Conclusions. In our experience, sonography and especially color-Doppler and power-Doppler sonography was helpful in the diagnosis of CSD. We believe it should be used in the initial study of children with regional lymphadenopathy, and serologic testing should be performed when CSD is suspected.     

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.