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Renal insufficiency is a component of COACH syndrome.
Am J Med Genet. 1996 Jan 11; 61(2):122-6.AJ

Abstract

Two sisters, ages 23 years and 6 years, respectively, were found to have congenital ataxia, bilateral coloboma, mental retardation and abnormal liver function. Magnetic resonance imaging showed cerebellar vermis hypoplasia in the younger girl and liver biopsy showed hepatic fibrosis in the older sister. This combination of findings suggested a diagnosis of COACH syndrome which is characterized by hypoplasia of cerebellar vermis, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. COACH syndrome is a newly recognized condition. So far, five cases have been reported from three sibships. We report two additional cases from one sibship and suggest that several other cases may already exist in literature that were not recognized as having COACH syndrome. The occurrence of multiple cases in single sibships suggests autosomal recessive inheritance. In addition to previously described findings typical of COACH syndrome, the older of our patients showed progressive renal insufficiency with fibrocystic changes on renal biopsy. Renal function has not been described consistently in previous reports of COACH syndrome but has been abnormal in all cases in which it has been investigated. We suggest that renal insufficiency should be considered a common manifestation of COACH syndrome.

Authors+Show Affiliations

University of Oklahoma Health Sciences Center, Oklahoma City.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8669436

Citation

Kumar, S, and R Rankin. "Renal Insufficiency Is a Component of COACH Syndrome." American Journal of Medical Genetics, vol. 61, no. 2, 1996, pp. 122-6.
Kumar S, Rankin R. Renal insufficiency is a component of COACH syndrome. Am J Med Genet. 1996;61(2):122-6.
Kumar, S., & Rankin, R. (1996). Renal insufficiency is a component of COACH syndrome. American Journal of Medical Genetics, 61(2), 122-6.
Kumar S, Rankin R. Renal Insufficiency Is a Component of COACH Syndrome. Am J Med Genet. 1996 Jan 11;61(2):122-6. PubMed PMID: 8669436.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Renal insufficiency is a component of COACH syndrome. AU - Kumar,S, AU - Rankin,R, PY - 1996/1/11/pubmed PY - 2000/6/20/medline PY - 1996/1/11/entrez SP - 122 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 61 IS - 2 N2 - Two sisters, ages 23 years and 6 years, respectively, were found to have congenital ataxia, bilateral coloboma, mental retardation and abnormal liver function. Magnetic resonance imaging showed cerebellar vermis hypoplasia in the younger girl and liver biopsy showed hepatic fibrosis in the older sister. This combination of findings suggested a diagnosis of COACH syndrome which is characterized by hypoplasia of cerebellar vermis, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. COACH syndrome is a newly recognized condition. So far, five cases have been reported from three sibships. We report two additional cases from one sibship and suggest that several other cases may already exist in literature that were not recognized as having COACH syndrome. The occurrence of multiple cases in single sibships suggests autosomal recessive inheritance. In addition to previously described findings typical of COACH syndrome, the older of our patients showed progressive renal insufficiency with fibrocystic changes on renal biopsy. Renal function has not been described consistently in previous reports of COACH syndrome but has been abnormal in all cases in which it has been investigated. We suggest that renal insufficiency should be considered a common manifestation of COACH syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8669436/Renal_insufficiency_is_a_component_of_COACH_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=61&issue=2&spage=122 DB - PRIME DP - Unbound Medicine ER -