Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema

Bonkowsky et al. (2004) reported 2 brothers with leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia. Both presented initially with seizures in the early postnatal period. Examined at ages 6 and 3, respectively, they exhibited significant developmental delay, and brain MRIs showed leukoencephalopathy characterized by profound hypomyelination. They developed arthritis, for which 1 brother required chronic treatment, and persistent intermittent diarrhea, necessitating treatment for inflammatory bowel disease. Multiple hospitalizations for sepsis prompted an immunologic analysis which revealed IgG1-subclass hypogammaglobulinemia and low B-cell levels. There was no family history of similar problems, and the brothers had an unaffected brother. Extensive investigations failed to uncover an underlying metabolic or genetic abnormality. Bonkowsky et al. (2004) stated that this constellation of symptoms represents a unique syndrome, which they symbolized LACH.