Hidrocefalia por hiperplasia de plexos coroideos en un paciente con mosaicismo de trisomía 9. Un verdadero reto diagnóstico y terapéutico

Choroid plexus hyperplasia and chromosome 9p gains

“…The results of cytogenetic analyses are only available for eight patients with CPH and hydrocephalus. Of these, seven patients have gain of chromosome 9p (Hallaert et al, ; Norman et al, ; Puerta‐Roldán et al, ; Taute et al ). Patients 3 and 4 have not been diagnosed with hydrocephalus to an extent that requires surgical management, however, they both have ventriculomegaly and enlarged choroid plexus.…”

“…CPH with communicating hydrocephalus has been reported in only 24 patients (Anei et al, ; Aziz, Coleman, Morokoff, & Maixner, ; Britz, Kim, & Loeser, ; Bucholz, ; Cataltepe, Liptzin, Jolley, & Smith, ; D'Ambrosio, O'toole, Connolly, & Feldstein, ; Davis, ; Demselben, ; Fujimoto, Lin, & Schwartz, ; Hallaert et al, ; Hirano et al, ; Hong, Xu, Maimaiti, Ye, & Chen, ; Iplikcioglu, Bek, Gokduman, Bikmaz, & Cosar, ; Kadyrov, Khukhlaeva, Gorelyshev, & Nikulina, ; Madhukar, Choudhary, Boal, Dias, & Iantosca, ; Norman, Harrison, Poskitt, & Kalousek, ; Philips, Shanno, & Duhaime, ; Puerta‐Roldán et al, ; Puvabanditsin et al, ; Smith et al, ; Tamburrini et al, ; Taute, Friedman, & Reid, ; Warren, Hendson, & Cochrane, ; Welch, Strand, Bresnan, & Cavazzuti, ). The distinction between CPH and bilateral choroid plexus papillomas may be difficult (D'Ambrosio et al, ; Welch et al, ).…”

“…The results of cytogenetic analyses have been reported in only six of the patients with CPH and hydrocephalus. Of these, three patients with tetrasomy 9p (triplication) (Hallaert et al, ; Norman et al, ; Taute et al, ), one patient with trisomy 9p (duplication) (Norman et al, ), one patient with trisomy 9 mosaicism (Puerta‐Roldán et al, ), and one patient with monosomy 1p36 (deletion) (Puvabanditsin et al, ) were described.…”