Preferred Label : Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema;
Symbol : LACH;
CISMeF acronym : LACH;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : 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. *FIELD* RF 1. Bonkowsky, J. L.; Bohnsack, J. F.; Pennington, M. J.;
Viskochil, D.; Thompson, J. A.: Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia
(LACH) in two brothers: a novel syndrome? Am. J. Med. Genet. 128A: 52-56, 2004. *FIELD*
CS Autosomal recessive; X-linked;
Inheritance : Autosomal recessive; X-linked;
Laboratory abnormalities : Increased erythrocyte sedimentation rate (ESR);
Prefixed ID : 608809;
Origin ID : 608809;
UMLS CUI : C1837329;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
