Rare clinical entity Perlman syndrome: Is cholestasis a new finding?

Abstract

Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor. Here we report on a newborn with a prenatal history of polyhydramnios who presented with nephromegaly, hypotonia, macrosomia, facial dysmorphism, cholestasis and characteristic ultrasonographic and computed tomographic appearances of renal abnormalities that are observed with Perlman syndrome. Perlman syndrome is a rare entity with a high neonatal mortality rate. This is the first case in which cholestasis has been observed. Close follow-up should be carried out for early detection of Wilms tumor.

<p>Perlman Syndrome with Deletion of <em>DIS3L2</em> Gene</p>

“…Prenatal suspicion and diagnosis is possible with the findings of macrosomia, polyhydramnios and renal anomalies or nephromegaly. 9 High neonatal mortality has been reported and >53% die within 28 days from birth. The high mortality has been linked to renal involvement and associated pulmonary disease.…”

Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2

“…By 2005 a total of 21 cases of Perlman syndrome were described [Piccione et al, ] and 3 years later Alessandri et al [] summarized the clinical features of 28 patients reported in the world literature.<QS>Perlman syndrome was recognized to be an autosomal recessively inherited condition. By 2005 a total of 21 cases of Perlman syndrome were described and 3 years later Alessandri et al summarized the clinical features of 28 patients reported in the world literature.</QS> Table provides a summary of the most common clinical features of Perlman syndrome (>50% of informative reports (presence or absence of features not available in all cases)) derived by combining the data presented by Alessandri et al [] with that from four further patients [Liban and Kozenitzky, ; Perlman et al, ; Neri et al, ; Greenberg et al, ; Henneveld et al, ; Alessandri et al, ; Demirel et al, ; Astuti et al, ]. In addition the frequency of the findings in the subset of patients known to have DIS3L2 mutations is recorded.…”

İntravenöz İmmünoglobulin ve Eritrosit Transfüzyonu ile Tedavi Edilen Bir Anti-C izoimmünizasyonu: Vaka Takdimi

“…Rh ve ABO izoimmünizasyonunda İVİG ile tedavinin etkinliğini inceleyen çalışmalar değerlendirildiğinde, İVİG tedavisinin kan değişimi sıklığını azalttığı bildiren yayınlar yanında (13) kan değişimi, eritrosit süspansiyonu gereksinimi ve hastanede yatış süresi üzerinde etkisi olmadığını bildiren yayınların da mevcut olduğu görülmektedir (14). Etki mekanizması tam bilinmemekle birlikte Fc reseptörüne bağlanan immunglobulinlerin retüküloendotelyal sistem aracılığı ile gerçekleşen eritrosit yıkımını engellediği düşünülmektedir (7).…”