how to cite this article: nilipour y. lysosomal myopathies. iran j child neurol autumn 2012; 6:4 (suppl. 1):11. pls see pdf.

Case presentation: 5-year-old girl, born from a consanguineous couple, is referred to our service due weakness and hypotonia. It was necessary hospitalization, after birth, respiratory insufficiency severe motor delay already evident in the first months of life. At 6 she did not have head control at 12 able sit without support. She developed problems with apneas hypercapnia, 3 years age, that t...

We report a 5-year-old girl with a unique neuromuscular disorder manifested by early onset of the disease, delayed motor development, joint contractures, dysmorphy, cobbler's chest, generalized muscle hypoplasia and weakness. Morphological examination revealed muscle cell immaturity and the appearance of multilamellar myelin-like structures within and outside the sarcolemma. Overexpression of a...

Experience has shown that clinical hypertrophic cardiomyopathy (HOCM, ASH) occurs in some patients with congenital heart disease, particularly simple lesions with a good natural prognosis. Its presence should be suspected when the clinical course is atypical for the basic congenital lesion or when there is unexpected cardiomegaly, an associated left sided lesion or left ventricular hypertrophy ...

A 6-week-old, Arabian-cross male foal was referred to the Veterinary Teaching Hospital at the Louisiana State University School of Veterinary Medicine for a 1-week history of progressive weakness and intermittent right thoracic limb lameness. The foal had a normal birth, was healthy, had been active, and had not exhibited any abnormalities of gait before presentation. The current owner had acqu...

OBJECTIVE We studied familial cases of skeletal myopathy with atrial fibrillation (Af) and atrioventricular (AV) block to compare the clinical features to other myopathies associated with cardiac abnormalities. METHODS Neurologic, cardiologic, electrophysiologic, muscle pathology, and genetic studies were performed on the patients showing muscle weakness. PATIENTS Four patients (a 63-year-o...