Ribosomal DNA assay of culture-negative Streptococcus pneumoniae meningitis.

Culture-negative bacterial meningitis with secondary complications remains a significant challenge. Optimal treatment requires identification of the infecting organism. While the gold standard for diagnosis remains cerebrospinal fluid culturing, a significant number of cultures remain negative despite clinical evidence of meningitis. This patient illustrates the usefulness of polymerase chain reaction technology in identifying a specific organism, in an otherwise culture-negative bacterial meningitis with spinal cord abscess.

Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance.

The proband, a 9-year-old Hispanic female, presented with hair loss, strabismus, and weight gain. On magnetic resonance imaging (MRI) she was found to have severe primary hypothyroidism and a large pituitary mass. In addition, acanthosis nigricans, obesity, and hyperinsulinism were observed. Findings were similar in three of four siblings. Thyroid peroxidase antibodies were detected in the father and three of four siblings. Although all family members were obese, and hyperinsulinemia with high proinsulin and C-peptide was found in all except one sibling, only the mother and one child had overt type 2 diabetes mellitus. Because of the unusual association of autoimmune thyroid disease, insulin resistance and obesity rather than insulin deficiency, we searched for possible genetic abnormalities. The HLA haplotypes did not cosegregate with autoimmune thyroid disease or insulin resistance. Mutational analysis of known obesity genes was done. Leptin was not deficient, and sequencing of the proband's DNA showed no mutations in the perixisome proliferator activated receptor (PPAR)-gamma, PPAR-gamma(2), PPAR-alpha or melanocortin 4 receptor genes. Maternally inherited diabetes and deafness was ruled out since no mutations were found in mitochondria DNA. Insulin receptor antibodies were not detected. In conclusion, the remarkably high incidence of childhood autoimmune hypothyroidism, pituitary enlargement, insulin resistance and obesity in this family is not linked to known HLA types or known gene defects.

Amebic encephalitis caused by Balamuthia mandrillaris: report of four cases.

We report four fatal cases of amebic encephalitis in children caused by the free-living pathogenic ameba Balamuthia mandrillaris. The clinical course ranged from subacute to fulminant. Provisional diagnoses were made either shortly before death or postmortem by an indirect immunofluorescent antibody test. Although the four cases occurred in different geographic locations, their common features may have diagnostic value for recognizing future cases of amebic encephalitis. The cases occurred in children 2 to 7.5 years old who were ostensibly immunocompetent and of Hispanic ethnicity. Three of the four children developed hydrocephalus during their illness. Increased awareness and timely diagnosis of this disease entity might lead to earlier intervention with improved outcome.

Infected cardiac myxoma.

Infected cardiac myxoma is a rare condition with variable presentation. We report a case of infected cardiac myxoma which presented as fever of unknown origin. Diagnostic considerations and treatment of this condition are discussed.