Case Report
Volume: 1 | Issue: 1 | Published: May 23, 2017 | Pages: 10 - 13 | DOI: 10.24911/ejmcr/1/3
An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report
Authors: Archana Murugan , Mohamed O E Babiker , Ruth Newbury-Ecob
Article Info
Authors
Archana Murugan
Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.
Mohamed O E Babiker
Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.
Ruth Newbury-Ecob
. Department of Clinical Genetics, St Michaels Hospital, Bristol, UK.
Publication History
Received: May 23, 2017
Accepted: January 01, 1970
Published: May 23, 2017
Abstract
Background: Many children with multiple congenital organ defects have a genetic etiological basis. Periventricular nodular heterotopia (PVNH) is a neuronal migrational disorder that can be seen in isolation or in association with other neurological and non-neurological features. Mutations in the FLNA gene may result in X-linked dominant bilateral PVNH, a condition that is predominately seen in females due to its in-utero lethality for males. Associated features may include cardiovascular defects and thrombocytopenia. Case presentation: We present an 8 year old girl with multiple congenital heart defects and longstanding unexplained low platelets counts. There were no neurodevelopmental concerns but she was incidentally found to have bilateral PVNH. Targeted genetic testing confirmed a mutation in the FLNA gene. Conclusion: Testing for mutations in this gene in any child with bilateral symmetrical PVNH is recommended. If mutations are found, then other associations should be searched for if not already evident.
Keywords: FLNA gene, cardiac defects, periventricular heterotopia, thrombocytopenia, case report, green
