Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.

Hdl Handle:
http://hdl.handle.net/10147/207421
Title:
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
Authors:
Lynch, N E; Lynch, S A; McMenamin, J; Webb, D
Affiliation:
Department of Neurosciences, Our Lady's Children's Hospital, Crumlin, Dublin 12, , Ireland. nlynch@rcsi.ie
Citation:
Arch Dis Child. 2009 Jul;94(7):553-4. Epub 2009 Mar 25.
Journal:
Archives of disease in childhood
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207421
DOI:
10.1136/adc.2008.155663
PubMed ID:
19321504
Abstract:
BACKGROUND: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. AIMS: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. METHODS AND RESULTS: Six children with a PTEN mutation were identified. All had extreme macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. CONCLUSION: BRRS should be considered in children with extreme macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of macrocephaly.
Language:
eng
MeSH:
Autistic Disorder/etiology/genetics; Child; Child, Preschool; Craniofacial Abnormalities/etiology/genetics; DNA Mutational Analysis; Developmental Disabilities/etiology/genetics; Female; Genetic Predisposition to Disease; Genetic Testing; Hamartoma Syndrome, Multiple/complications/*diagnosis/genetics; Humans; Infant; Infant, Newborn; Lipoma/etiology/genetics; Male; Motor Skills Disorders/etiology/genetics; PTEN Phosphohydrolase/genetics; Retrospective Studies; Skin Diseases/etiology/genetics
ISSN:
1468-2044 (Electronic); 0003-9888 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorLynch, N Een_GB
dc.contributor.authorLynch, S Aen_GB
dc.contributor.authorMcMenamin, Jen_GB
dc.contributor.authorWebb, Den_GB
dc.date.accessioned2012-02-01T10:24:34Z-
dc.date.available2012-02-01T10:24:34Z-
dc.date.issued2012-02-01T10:24:34Z-
dc.identifier.citationArch Dis Child. 2009 Jul;94(7):553-4. Epub 2009 Mar 25.en_GB
dc.identifier.issn1468-2044 (Electronic)en_GB
dc.identifier.issn0003-9888 (Linking)en_GB
dc.identifier.pmid19321504en_GB
dc.identifier.doi10.1136/adc.2008.155663en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207421-
dc.description.abstractBACKGROUND: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. AIMS: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. METHODS AND RESULTS: Six children with a PTEN mutation were identified. All had extreme macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. CONCLUSION: BRRS should be considered in children with extreme macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of macrocephaly.en_GB
dc.language.isoengen_GB
dc.subject.meshAutistic Disorder/etiology/geneticsen_GB
dc.subject.meshChilden_GB
dc.subject.meshChild, Preschoolen_GB
dc.subject.meshCraniofacial Abnormalities/etiology/geneticsen_GB
dc.subject.meshDNA Mutational Analysisen_GB
dc.subject.meshDevelopmental Disabilities/etiology/geneticsen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshGenetic Predisposition to Diseaseen_GB
dc.subject.meshGenetic Testingen_GB
dc.subject.meshHamartoma Syndrome, Multiple/complications/*diagnosis/geneticsen_GB
dc.subject.meshHumansen_GB
dc.subject.meshInfanten_GB
dc.subject.meshInfant, Newbornen_GB
dc.subject.meshLipoma/etiology/geneticsen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMotor Skills Disorders/etiology/geneticsen_GB
dc.subject.meshPTEN Phosphohydrolase/geneticsen_GB
dc.subject.meshRetrospective Studiesen_GB
dc.subject.meshSkin Diseases/etiology/geneticsen_GB
dc.titleBannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.en_GB
dc.contributor.departmentDepartment of Neurosciences, Our Lady's Children's Hospital, Crumlin, Dublin 12, , Ireland. nlynch@rcsi.ieen_GB
dc.identifier.journalArchives of disease in childhooden_GB
dc.description.provinceLeinster-

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