Pompe disease is a rare autosomal recessive lysosomal storage disease caused by defi ciency of acid α-glucosidase (GAA). This defi ciency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage, and organ dysfunction. In early onset patients (the classic infantile form), this glycogen accumulation leads to death, usually before the age of 1 year. Some p...

The absent or atypical clinical signs in elderly persons hinder the management of coronary atherosclerotic disease. The cases of myocardial ischemia without pain, the so-called asymptomatic or silent ischemia, it is more frequent in elderly patient2. Considering patients with acute coronary syndrome, as myocardial infarction with ST-segment elevation, among those under 65 years of age, only 11....

PURPOSE To report a case of primary conjunctival epithelial inclusion cyst with atypical manifestation. METHODS A 66-year-old woman presented with a yellowish, subconjunctival mass extending from the corneal limbus to the medial canthus in the left eye. Clinical, radiological and histological assays were performed. RESULTS The mass was well-delineated, and the overlying conjunctiva was norm...

Persistent pain development after a skeletal contusion rarely poses the diagnosis of osteomyelitis. We report the case of a fibular head contusion as an initial manifestation of a focal abscess development in a healthy young patient. The traditional treatment of surgical drainage revealed the presence of an atypical Mycobacterium haemophilum isolates in the abscess. This lead to further investi...

Acute scrotal edema associated with dengue fever is a rare and self limiting condition resolving in a few days without any complication or sequelae. We report two cases of dengue fever in father and son which presented simultaneously with acute scrotal edema.

Two cases of atypical Kawasaki disease (KD) manifested as persistent lobar lung consolidation, prolonged fever, and active inflammatory laboratory markers unresponsive to antibiotic treatment are reported. One of the children developed a giant coronary aneurysm. Atypical KD should be considered in the differential diagnosis of young children with prolonged fever and lobar consolidation unrespon...

A 21-year-old-man presented in a semiconscious state with 2 days’ inability to walk and 5 days’ history of fever (102.2°F) and rash. Examination revealed severe ataxia, slurred speech, and a scrotal scar (figure 1). Head CT and CSF studies were normal. Brain MRI revealed diffuse cerebellar cortical hyperintensity on T2 and fluidattenuated inversion recovery images (figure 2, A and B), with rest...

We read with great interest the well-written and informative pictorial essay by Park et al. (1), which reviews the thoracic manifestations of sarcoidosis, classifying them as typical and atypical. They indicate that the less frequent and unusual manifestations may be observed in 25% to 30% of cases, emphasizing the difficulty to differentiate sarcoidosis from other diseases, and the importance ...

Neonatal lupus erythematosus is a rare, passively acquired autoimmune disease, caused by maternal autoantibodies. The most common manifestations are skin rash and congenital heart block. Cutaneous manifestations may be present at birth, but often develop within a few weeks after delivery. Congenital heart block may present as bradycardia in utero or during physical examination at birth. Approxi...