Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the beta-glucosidase (betaGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. In one of them a mistarget of the betaGC was demonstrated. We report here the biochemical and molecular findings in a patient diagnosed with progressive myoclonic epilepsy due to a mistarget of the betaGC, probably caused by a LIMP-2 deficiency, providing valuable information for the diagnosis of this rare disorder.

Unusual manifestations of infections due to Mycoplasma pneumoniae in children.

Mycoplasma pneumoniae (Mp) is an important cause of pneumonia in paediatric age, but also other organs or systems can be affected even without pulmonary involvement. The purpose of this study is to stress the unusual clinical features of Mp infection in children. A review of children affected with Mp infection with peculiar pulmonary and/or extra-pulmonary forms is reported. Diagnosis of Mp infection was always confirmed by serum anti-Mp antibody assay. Two patients with infection of the lower airways showed severe respiratory distress; nine cases with only extra-pulmonary manifestations presented urticaria and arthralgia; three patients had severe neuromuscular impairment, one of these resulting in flaccid tetraparesis; one 2-year-old child had anicteric hepatitis, without any sequelae; one case of a 6-year-old child presented severe haemolytic anaemia, and a 5-year-old child with Schonlein-Henoch purpura. In conclusion, Mp infection, a frequent cause of pneumonia at all paediatric ages, may also give rise to extrapulmonary manifestations. Frequently, muscular-articular or neurological systems, skin or other organs are involved. Clinical suspicion of Mp infection is essential in severe cases and the outcome of all pulmonary and/or extra-pulmonary manifestations depends on early diagnosis and specific therapy.