Services on Demand
Journal
Article
Indicators
- Cited by SciELO
- Access statistics
Related links
- Similars in SciELO
Share
Acta pediátrica de México
On-line version ISSN 2395-8235Print version ISSN 0186-2391
Abstract
HUERTA-URIBE, Nidia and VILLARROEL-CORTES, Camilo. Prolonged survival in Casamassima Morton Nance Syndrome: Case report and review of the literature. Acta pediatr. Méx [online]. 2015, vol.36, n.2, pp.89-96. ISSN 2395-8235.
Casamassima Morton Nance Syndrome (CMNS) is an extraordinary entity, of unknown aetiology and poor prognosis, which belongs to the heterogeneous group of spondylocostal dysostosis. The syndrome is characterized by costal and vertebral anomalies, anal atresia and genitourinary defects, such as cryptorchidism, hydrocele, hydronephrosis, renal agenesis, cloaca and urinary fistula, among others. In this work we report a 6 year-old girl, no history of consanguinity and with normal karyotype, presenting costovertebral, anal and urogenital congenital defects, consistent with CMNS. In the evolution of the disease, the patient presented severe psychomotor delay, epilepsy and relapsing renal lithiasis. These findings have not been mentioned in the previous reports, probably due to short survival. The causal mechanisms proposed are autosomal recessive inheritance, de novo mutations and chromosomal rearrangements, present in at least two cases. This report illustrates the possibility of achieving a longer survival, up to scholar age, by an early multidisciplinary approach, although the syndrome may cause severe psychomotor delay. The aetiology remains unknown, perhaps being heterogeneous, which makes these patients suitable for comparative genomic hybridization to microarrays or exome sequencing.
Keywords : Casamassima Morton Nance Syndrome; spondylocostal dysostosis; urogenital malformation; relapsing renal lithiasis; psychomotor delay.