ceroid/fever

Liver specimens from 10 cases of yellow fever (YF) were studied by light and four by electron microscopy to review morphological aspects of the disease relevant to its diagnosis, with special emphasis on acidophilic bodies (AB) and on the possible presence of the virus within infected cells. The AB

The objective of this review is to summarize the pharmacology, efficacy, and safety of cerliponase alfa for the treatment of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). Cerliponase alfa is recombinant human tripeptidyl peptidase 1 enzyme replacement therapy. A phase 1/2 trial

METHODS A 71-year-old woman, suffering from spinal stenosis presented interstitial lung disease, albinism, and severe loss of visual acuity. On physical examination she showed tic-like automatism predominantly periorbital in the face and in the fingers. A computed tomography of the chest revealed

A boy, who started remittent fever reaching 40 degrees C at the age of 4 years and 9 months and gradually developed hepatosplenomegaly, lymphadenopathy, pancytopenia, and hypergammaglobulinemia, is reported. Aspirated bone marrows contained sea-blue histiocytes, and nitroblue tetrazolium test was

First pathoanatomic case report of mucocutaneous lymph-node syndrome (MCLS) from Austria: A 3 1/2 year old boy was admitted to the Pediatric Department with a six day history of fever and bilateral conjunctivitis. He showed a maculous exanthema, red and fissuring lips, reddened tonsils and a coated

Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children. In a multicenter, open-label study, we

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease, OMIM 204500) is a rare autosomal-recessive lysosomal storage disorder. It is one of the most common neurodegenerative disorders in childhood. Symptoms include epilepsy, rapid motor and language regression, dementia, visual loss, and a complex