+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn

+ Translate
+ Recently Requested

Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome

Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome

American Journal of Medical Genetics 62(4): 415-416

We describe a family which demonstrates and expands the extreme clinical variability now known to be associated with the A-->G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including anal atresia, caudal dysgenesis, and multicystic dysplastic kidneys. His co-twin was normal at birth, but at 3 months of life, presented with intractable seizures later associated with developmental delay. The twins' mother developed diabetes mellitus type I at the age of 20 years and gastrointestinal problems at 22 years. Since age 19 years, the maternal aunt has had recurrent strokes, seizures, mental deterioration and deafness, later diagnosed as MELAS syndrome due to the tRNA(Leu(UUR)) A-->G mutation. A maternal uncle had diabetes mellitus type I, deafness, and normal intellect, and died at 35 years after recurrent strokes. This pedigree expands the known clinical phenotype associated with tRNA(Leu(UUR)) A-->G mutation and raises the possibility that, in some cases, diabetic embryopathy may be due to a mitochondrial cytopathy that affects both the mother's pancreas (and results in diabetes mellitus and the metabolic dysfunction associated with it) and the embryonic/fetal and placental tissues which make the embryo more vulnerable to this insult.

(PDF emailed within 0-6 h: $19.90)

Accession: 033119255

Download citation: RISBibTeXText

PMID: 8723075

DOI: 10.1002/ajmg.1320620405

Related references

Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: Hydrolethalus or acrocallosal syndrome?. American Journal of Medical Genetics 91(3): 231-234, March 20, 2000

A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. European Journal of Pediatrics 151(4): 288-290, 1992

An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. Genetic Counseling 19(2): 237-240, 2008

Recurrent parotitis as a first manifestation of adult primary Sjogren's syndrome. 2007

Recurrent parotitis as a first manifestation of adult primary Sjögren's syndrome. Internal Medicine 45(13): 831-832, 2006

Recurrent parotitis as a first manifestation in a child with primary Sjogren's syndrome. West Indian Medical Journal 60(6): 685-687, 2012

Recurrent submandibular gland swelling as a first manifestation in a child with primary Sjögren syndrome. Journal of Craniofacial Surgery 24(4): E413-E415, 2014

Recurrent optic neuritis as the presenting manifestation of primary hypereosinophilic syndrome: a report of two cases. Journal of Neuro-Ophthalmology 25(2): 116-121, 2005

Recurrent macrophage activation syndrome as the primary manifestation in systemic lupus erythematosus and the benefit of serial ferritin measurements: a case-based review. Clinical Rheumatology 32(6): 899-904, 2014

Recurrent longitudinal myelitis as primary manifestation of SLE. Neurology 63(10): 1976, 2004

Recurrent pleural effusion as a manifestation of primary amyloidosis. Archivos de Bronconeumologia 35(9): 464, 1999

Molecular analysis of a family with Greig cephalopolysyndactyly syndrome and acrocallosal syndrome. American Journal of Human Genetics 59(4 SUPPL ): A96, 1996

Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. American Journal of Medical Genetics 69(1): 17-22, 1997

Recurrent strokes: Manifestation of the POEMS syndrome?. Schweizerische Medizinische Wochenschrift 128(26): 1059-1064, June 27, 1998