Septic arthritis caused by an emerging ST121 methicillin-susceptible, PVL-negative Staphylococcus aureus harbouring a variant of bone sialoprotein-binding protein gene.

ST121/agr-IV methicillin-susceptible Staphylococcus aureus was isolated from a patient of septic arthritis (synovial fluid, blood, skin and nasal cavity). Although the Panton-Valentine leukocidin (PVL) gene was negative, this isolate harboured a gene encoding a variant of bone sialoprotein-binding protein with a shortened SD-repeat region.

Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.

We describe a simple and technically feasible method for mutation screening of the phenylalanine hydroxylase (PAH) gene and its application to Japanese and Chinese patients with hyperphenylalaninemia. The strategy is based on the identification of a nucleotide substitution by restriction enzyme analysis, coupled with PCR and direct sequencing of exon 7 of the PAH gene. Because the detection of various mutations can proceed simultaneously using the same technique, it is quite rapid and reproducible, making it possible to perform effective molecular diagnosis and carrier screening in most laboratories. Using this procedure, we found that the most common molecular defects were R413P in Hokkaido, Japan (35 %) and R243Q in Heilongjiang, China (50%). R111X, IVS4nt-1, and five mutations in exon 7 (R241C, R243Q, R252W, A259T, and S273P) accounted for 55% of phenylketonuria (PKU) alleles in Hokkaido. In Heilongjiang, the R111X, Y356X, and R408W mutations accounted for 35% of PKU alleles. Clinically, homozygotes or compound heterozygotes of null alleles, which express nonfunctional enzyme activity, were all associated with classic PKU. On the other hand, patients heterozygous for the R241C allele had a benign phenotype of mild hyperphenylalaninemia. The DNA diagnosis in early infancy can predict various PKU phenotypes, and can prove useful in decision-making concerning dietary therapy.

Mutation screening of phenylketonuria in the Far East of Russia.

We analyzed mutant genotypes at the human phenylalanine hydroxylase (PAH) locus among phenylketonuria (PKU) patients in the Far East of Russia. A total of 60 variant alleles from 30 PKU families were analyzed for prevalent Caucasian mutations and restriction fragment length polymorphism/variable number of tandem repeats (RFLP/VNTR) haplotypes. Seventy-eight percent of all variant alleles carried six mutations. The most prevalent mutation was R408W (63%), with a haplotype background of 2.3. It also showed a very high degree of homozygosity (43%). The other five mutations (R158Q, R261Q, R252W, R261X, and IVS12nt-1) accounted for 1.7%-6.7% of all PKU alleles, and a single haplotype was associated with each genotype, except for R261Q. The genetic structure of PKU patients in the Far East of Russia seems to be relatively homogeneous, compared with that in the other Slavic and Oriental populations of surrounding countries. Prediction of a clinical phenotype and carrier detection will be feasible using DNA tests.

"Obtundation status (Dravet)" caused by complex partial status epilepticus in a patient with severe myoclonic epilepsy in infancy.

PURPOSE: We report a 1-year 7-month-old boy with severe myoclonic epilepsy in infancy (SME) who exhibited complex partial status epilepticus (CPSE), which was confirmed by ictal video-EEG analysis. This boy first had a hemiconvulsion in a hot bath at age 3 months. Thereafter, he exhibited both partial and generalized seizures that were extremely intractable. At age 9 months, he had a prolonged episode of impaired consciousness that fit the "obtundation status in SME" defined by Dravet et al. METHODS AND RESULTS: Ictal EEG revealed persisting irregular spike-and-wave complexes over the left hemisphere, predominantly in the occipitotemporal area, and confirmed CPSE. The EEG abnormalities with decreased level of the consciousness continued approximately 6 h after onset of the symptoms even with AED administration. CONCLUSIONS: Because SME features both generalized and focal seizures, both types of nonconvulsive status may be seen in SME. Although Dravet et al. already reported long-lasting atypical absences in patients with SME as "obtundation status," we demonstrated CPSE in an infant with SME who exhibited a prolonged stuporous state.

Complex partial status epilepticus in childhood.

We report 5 pediatric patients (2 male, 3 female; age range: 4-8 years) with complex partial status epilepticus (CPSE). Four patients had previous illnesses and mild motor or mental retardation. In 2 patients, CPSE was induced by inappropriate management or selection of antiepileptic drugs. Clinical features varied and automatisms were observed in 3 patients. In 1 patient, decreased physical tone with syncope and impaired consciousness with amaurosis were observed. The episodes of CPSE were continuous in 3 patients and recurrent in 2 patients. In 4 patients, ictal electroencephalographic (EEG) findings, including video-EEG analyses of 3 patients, demonstrated persistent focal epileptic features. Intravenous diazepam abolished CPSE in 3 patients with brief periods of definite EEG localizations remaining. In 4 patients, seizure prognoses were favorable after appropriate treatments; in 1 patient, seizures were intractable even after antiepileptic drug administration.

Ictal video-EEG analysis of infantile neuroaxonal dystrophy.

A 4-year-old boy with infantile neuroaxonal dystrophy (INAD) showed gradual deterioration from age 9 months with seizure development at age approximately 36 months. Sural nerve biopsy performed at age 42 months confirmed INAD. The seizure, recorded by video-EEG, consisted of a series of symmetrical tonic spasms of both upper extremities after a prodrome period of staring and akinesis. Each spasm had phonation, and episodic autonomic symptoms such as hypertension and flushing of the face occurred throughout the seizure. Ictal EEG with each tonic spasm, showed diffuse 1-s, irregular sharp and high-voltage slow wave complexes followed by desynchronization.

Clinical and histologic studies of neuronal intestinal dysplasia.

Over a period of 10 years we have treated 10 patients with neuronal intestinal dysplasia (NID), including 3 in whom the entire intestinal tract was affected by NID, and one in whom small intestinal NID coexisted with total colonic aganglionosis. Three of these 4 patients have died and the one survivor requires parenteral feeding. The six patients with less extensive NID have all been treated successfully; three have required surgery (Duhamel procedure in 2 and colostomy in 1), but 3 responded to conservative measures. We have made detailed histologic studies, including acetylcholinesterase activity in all cases, silver impregnation studies in 4, and immunohistochemical investigation of the peptidergic innervation of the bowel in one case. Follow-up rectal biopsies have not shown any significant morphological changes with time, but functional improvement does occur and we suggest that the myenteric ganglia in NID may have the capacity for functional maturation.