alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.

Two additional patients with alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency are described. An 11-month-old girl with nonconsanguineous parents had generalized seizures and no angiokeratoma. Biochemical investigation showed persistent slight oligosacchariduria; enzymatic analysis of plasma, leukocytes, and fibroblasts revealed profound alpha-NAGA deficiency.

Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.

Analysis of recent literature on Niemann-Pick disease type C (NPC) reveals a broad clinical spectrum with diverse neurological manifestations. Diagnosis and assessment are discussed. We present a case with symptomatology that is in concordance with a specific phenotype.

[One thing begets another].

In this article the signs and symptoms as well as the course and complications are described of a feverish disease contracted by a fourteen year old boy after spending summer-holidays in the southern part of France. In retrospect this disease could be diagnosed as 'Mediterranean spotted fever' In the same period of these manifestations also a partial loss of sight at one eye occurred; although serology tests of antibody titers were negative, it was attributed to chorioretinitis due to activation of a congenital toxoplasmosis. The course was further complicated by an acute renal insufficiency during treatment of the chorioretinitis with high doses sulfadiazine.

[An infant with 5 weeks of fever of unknown origin and a reasonably good clinical condition; leishmaniasis].

In a Dutch infant, aged 10 months, with fever of unknown origin for 5 weeks and a relatively good clinical condition splenomegaly was present. Visceral leishmaniasis was diagnosed. The parasite is found in (sub)tropical regions and had in this case been acquired in Southern Spain.