Wolf-Hirschhorn syndrome and pigment vascular phacomatosis: Coincidence or association? Case report; [Síndrome de Wolf-Hirschhorn y facomatosis pigmento vascular: ¿coincidencia o asociación? Reporte de caso]
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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 phacomatosis (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. CONCLUSIÓN: 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.
