1/4. Galactosaemia in an infant: case report.Galactosaemia is a disorder of galactose metabolism in which raised levels of galactose and galactose-l-phosphate damage various organs. It is a very rare disease (incidence 1 in 60,000) and the diagnosis is often missed, leading to poor prognosis. A case of clinical galactosaemia that was diagnosed at the age of 11 months is reported. It is important to be aware of this condition as early treatment may prevent some of the complications.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/4. autoimmunity to munc-18 in Rasmussen's encephalitis.Rasmussen's encephalitis (RE) is a rare disease of the central nervous system characterized by severe epileptic seizures, progressive degeneration of a single cerebral hemisphere, and autoimmunity directed against glutamate receptor subunit, GluR3. We report here the identification of high-titer autoantibodies directed against munc-18 in the serum of a single patient with RE previously shown to have anti-GluR3 antibodies. Munc-18 is an intracellular protein residing in presynaptic terminals, which is required for secretion of neurotransmitters. These findings are consistent with the possibility of intermolecular epitope spreading between GluR3, a postsynaptic cell surface protein, and munc-18, a presynaptic intracellular protein. Immune attack on these two proteins, which participate at distinct steps of synaptic transmission, could act in an additive or synergistic manner to impair synaptic function and lead to seizures and neuronal death.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/4. neurocysticercosis. Case report.In the present review we report a case of a 53-year-old woman affected with a cyst solitary cerebral hemispheric lesion causing acute generalized seizure. Clinical and neuroradiologic diagnosis of cystic astrocytoma was performed and the patient was operated. Microscopic analysis of the surgical specimen led to a diagnosis of parasitic infection, consistent with neurocysticercosis (NCC). NCC is the most frequent parasitosis of the central nervous system (CNS) in the world. The infective agent is taenia solium larvae. It is endemic in latin america, africa and some Asiatic countries, such as india. In europe, many cases have been reported in portugal, spain, poland and romania. In italy NCC is a rare disease. In recent years no cases have been described, but with high rate of immigration from endemic areas (africa and East europe) this parasitosis will be found in our country too, particularly affecting communities where hygienic conditions are poor. In conclusion we briefly analyze the relationship between pathogenesis of this parasitosis and its clinical symptoms.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/4. Phakomatosis pigmentovascularis type IIb associated with sturge-weber syndrome.We describe a 23-month-old child with phakomatosis pigmentovascularis type IIb associated with sturge-weber syndrome. Phakomatosis pigmentovascularis type IIb is a rare cutaneous malformation characterized by the simultaneous occurrence of nevus flammeus and melanocytic nevi. A brief review of the literature is presented and classification of this rare disease is discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |