medigraphic.com
Órgano Oficial del Instituto Nacional de Pediatría

2024, Number 4

<< Back Next >>

Acta Pediatr Mex 2024; 45 (4)

Wolf-Hirschhorn syndrome and pigment vascular phacomatosis: coincidence or association? Case report

González GSS, Lomelí VR, Martínez GLS, Méndez GV, Orozco CML

Language: Spanish
References: 24
Page: 294-300
PDF size: 329.98 Kb.


ABSTRACT

Background: Wolf-Hirschhorn syndrome (WHS) is a chromosomal disorder caused by a deletion in the distal region of the short arm of chromosome 4 (4p16.3). It is characterized by the presence of "Greek warrior helmet" facies, intrauterine growth retardation and postnatal stages, delayed psychomotor development, epilepsy, and cardiac abnormalities. Pigmentovascular phakomatosis (FPV) is a syndrome characterized by the association of capillary vascular malformations and congenital cutaneous pigmentary abnormalities.
Clinical case: A 37-weeks female newborn, obtained by cesarean section due to intrauterine growth restriction type I and loss of fetal well-being. Prenatal diagnosis of WHS was performed by multiplex ligation dependent probe amplification (MLPA) technique and fluorescence in situ hybridization (FISH) at birth. Intrauterine growth restriction was confirmed at birth (weight below the 3rd percentile), characteristic facies, cyanogenic cardiopathy, encephalogram and neuroimaging alterations and unexpectedly aberrant Mongolian spot and cutaneous capillary malformations.
Conclusion:: Presence of WHS and phakomatosis pigmentovascularis in the same patient is documented for the first time. The genetic study in complex syndromes is essential to understand its etiopathogenesis.


REFERENCES

  1. Blanco-Lago R, Málaga I, García-Ron A. Síndrome de Wolf-Hirschhorn. Serie de 27 pacientes: características epidemiológicasy clínicas. Situación actual de los pacientes yopinión de sus cuidadores respecto al proceso diagnóstico.Rev Neurol. 2013; 57:49-56.

  2. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F,Selicorni A, Buttè C, Memo L, Capovilla G, Neri G. Mappingthe Wolf-Hirschhorn syndrome phenotype outsidethe currently accepted WHS critical region and defininga new critical region, WHSCR-2. Am J Hum Genet. 2003Mar;72(3):590-7.

  3. Cooper H, Hirschhorn K. Deletion of short arms of chromosome

  4. 4-5 in a child with defects of midline fusion. MammChromosom Newsl. 1961;4(14):479–82.4. Wolf, U., Reinwein, H., Porsh, R., Schroter, R., & Baitsch,H. Defizienz am den kurze Armen eines chromosomes nr.4. Humangenetik. 1965. 1, -397–413.

  5. Battaglia A, Carey JC. The delineation of WHS over six decades:advances in phenotype analysis and cytogenomictechnology. Am J Med Genet 2021.

  6. DOI:10.1002/ajmg.a.62341.

  7. Sifakis S, Manolakos E, Vetro A, Kappou D, Peitsidis P,Kontodiou M, et al. Prenatal diagnosis of Wolf-Hirschhornsyndrome confirmed by comparative genomic hybridizationarray: report of two cases and review of the literature.Mol Cytogenet. 2012;5(12):1-7.

  8. Sase M, Hasegawa K, Honda R, Sumie M, Nakata M, SuginoM, et al. Ultrasonographic Findings of Facial Dysmorphismin Wolf-Hirschhorn Syndrome. Am J Perinatol. 2005;2: 99-102. DOI 10.1055/s-2005-837275.

  9. Xing Y, Holder J, Liu Y, Yuan M, Sun Q, Qu K, et al. Prenataldiagnosis of Wolf–Hirschhorn syndrome: from ultrasoundfindings, diagnostic technology to genetic counseling.Arch Gynecol Obstet. 2018;298(2):289-295. https://doi.org/10.1007/s00404-018-4798-1.

  10. Aviña JA, Hernández A. Síndrome de Wolf-Hirschhorn:Microdeleción distal del brazo corto del cromosoma 4.Rev. Chil. Pediatr. 2008;79(1):50-53.

  11. Blanco-Lago R, Málaga-Diéguez I, Granizo-Martínez JJ, Carrera-García L, Barruz-Galián P, Lapunzina P, et al. Síndrome deWolf-Hirschhorn. Descripción de una cohorte española de 51casos y revisión de la bibliografía. Rev Neurol. 2017; 64: 393.

  12. Vidaurri-de la Cruz H, Tamayo-Sánchez L, Durán-McKinsterC, Orozco -Covarrubias M de L, Ruiz -Maldonado R. Phakomatosispigmentovascularis II A and II B: clinical findings in24 patients. J Dermatology 2003 May 30 (5):381-8.

  13. Viada Peláez MC, Stefano PC, Cirio A, et al. Facomatosispigmentovascular tipo cesioflammea: a propósito de uncaso. Arch Argent Pediatr 2018;116(1):e121-e124.

  14. Fernández-Guarino M, Boixeda P, de Las Heras E, Aboin S,García-Millán C, Olasolo PJ. Phakomatosis pigmentovascularis:Clinical findings in 15 patients and review of theliterature. J Am Acad Dermatol. 2008;58:88–93.

  15. Esparza-García E, Cárdenas-Conejo A, Huicochea-MontielJC, Aráujo-Solís MA. Cromosomas, cromosomopatías y sudiagnóstico. Rev Mex Pediatr 2017; 84(1):30-39.

  16. Ferreres García K, Viñuela Beneítez MC, Cervantes ReynaD, Blanco Soto P y Gámez Alderete F. Retraso del crecimientointrauterino de causa genética: síndrome deWolf- Hirschhorn. Prog Obstet Ginecol. 2017;60(1):75-78.

  17. Battaglia A, Carey JC. Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome. Brain Dev. 2005; 27(5): 362–364. https://doi.org/10.1111/j.1469-8749.2008.03233.x.

  18. Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ,et al. Chromosomal microarray testing identifies a 4p terminalregion associated with seizures in Wolf-Hirschhornsyndrome. J Med Genet. 2016;53(4):256–63. http://dx.doi.org/10.1136/ jmedgenet-2015-103626.

  19. Battaglia A, Carey JC, South ST. Wolf-Hirschhorn Syndrome:A review and update. Am J Med Genet C. 2015; 169C: 216-223. https://doi.org/10. 1002/ajmg.c.31449/.

  20. Shannon NL, Maltby EL, Rigby AS, Quarrell OW: An epidemiologicalstudy of Wolf-Hirschhorn syndrome: life expectancyand cause of mortality. J Med Genet. 2001; 38: 674-9.

  21. Ota M, Kawamura T, Ito N. Phakomatosis pigmentovascularis.Jpn J Dermatol 1947;57:1-3.

  22. Kumar A, Zastrow DB, Kravets EJ, Beleford D, RuzhnikovMRZ, Grove ME, et al. Extracutaneous manifestations inphacomatosis cesioflammea and cesiomarmorata: Caseseries and literature review. Am J Med Genet A. 2019Jun;179(6):966-977. doi:10.1002/ajmg.a.61134.

  23. Sheth F, Akinde OR, Datar C, Adeteye OV, Sheth J. Genotype-Phenotype Characterization of Wolf-HirschhornSyndrome Confirmed by FISH: Case Reports. Case RepGenet. 2012;2012:878796. doi: 10.1155/2012/878796.Epub 2012 Nov 22. PMID: 23227376; PMCID: PMC3512217.

  24. Happle R. Phacomatosis pigmentovascularis revisited andreclassified. Arch Dermatol. 2005 Mar;141(3):385-8. doi:10.1001/archderm.141.3.385. PMID: 15781681.




2020     |     www.medigraphic.com