medigraphic.com
ISSN 2221-2434 (Electronic)

2022, Number 4

<< Back

Finlay 2022; 12 (4)

Baller-Gerold syndrome. About a clinical case and review of the literature

Piña RAN, Intento GO, Montes AS

Language: Spanish
References: 10
Page: 491-495
PDF size: 172.80 Kb.


ABSTRACT

Baller-Gerold syndrome is secondary to mutations in the RECQL4 gene (8q24.3). This gene belongs to the RecQhelicase family and is implicated in other diseases predisposing to cancer. Diagnosis is based on clinical criteria and due to the high number of differential diagnoses, finding a mutation in the gene can help to specify the diagnostic spectrum, genetic counseling and treatment. Around 30 cases have been described in the literature, although it is known that it has occurred in less than 200,000 people in the world, being considered a rare clinical condition. We present the case of a newborn, who at birth was found to have multiple musculoskeletal malformations: radial aplasia, aplastic thumbs, malformations of the rib cage, clinodactyly of all the fingers of the upper limbs, hypoplastic forearms, clinodactyly of the left lower limb. She was given parenteral feeding for several days, it was impossible to establish an adequate oral route due to the absence and/or incoordination of the sucking-swallowing reflexes as an expression of her malformations at the central nervous system level. The case is presented due to its low incidence and prevalence, which is why it is considered a rare disease.


REFERENCES

  1. Haddadi K, Zare A, Asadian L. Dandy-Walker Syndrome: A Review of New Diagnosis and Management in Children. J Pediatr Rev. 2018;6(2):47-52.

  2. Auqui DA, Espinoza EE, Cahuasqui JS, Espín PA. Diagnóstico prenatal del Síndrome de Dandy Walker reporte de un caso. Dom Cien[Internet]. 2020[citado 15/11/2021];6(4):[aprox. 4p.]. Disponible en: Disponible en: https://www.dominiodelasciencias.com/ojs/index.php/es/article/view/1615 2. .

  3. Rahmani R, Lotfian N, Rahmani M, Amiri M, Darafshi R. Dandy-walker syndrome: a rare case report. J Mazandaran Univer Med Scien. 2018;27(156):218-25.

  4. Monteagudo A. Dandy-Walker Malformation. Am J Obstet Gynecol. 2020;223(6):B38-41.

  5. Zamora EA, Ahmad T. Dandy Walker Malformation[Internet]. Bethesda:National Library of Medicine;2019[citado 4/7/2021]. Disponible en: Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK538197/ 5. .

  6. Santoro M, Coi A, Barišić I, Garne E, Addor MC, Bergman JE, et al. Epidemiology of Dandy-Walker malformation in Europe: a EUROCAT population-based registry study. Neuroepidemiology. 2019;53(3-4):169-79.

  7. Zacharis K, Kravvaritis S, Papakonstantinou A, Charitos T, Chrysafopoulou E, Fouka A. Dandy-Walker Malformation: Prenatal sonographic diagnosis. HJOG. 2020;19(2):101-4.

  8. Orphanet. Malformación de Dandy-Walker aislada[Internet]. Paris:Orphanet;2022[citado 21/9/2022]. Disponible en: Disponible en: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=ES&Expert=217 8. .

  9. Rodríguez OL, Villafuerte D, Melo ZA, Gil M. Presentación de un caso con síndrome de Dandy Walker. CCM[Internet]. 2017[citado 27/3/2021]. Disponible en: Disponible en: https://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1560-43812017000400025 9. .

  10. Dastoli PA, Nicácio JM, Da Costa MD, Suriano IC, Da Silva MC, Cavalheiro S. Hydrocephalus and Dandy-Walker Malformation: a review. Arch Pediatric Neurosur. 2020;2(3):e442020.




2020     |     www.medigraphic.com