Epidermoid Splenic Cyst in Children Treated by Laparoscopic Partial Splenectomy.

ABSTRACT: Epidermoid splenic cyst is a rare benign tumour in children, accounting for 10% of all cystic lesions of the spleen and is the most common diagnosis of non-parasitic splenic cysts. Its discovery could be incidental or happen after an imaging workup for a mass or abdominal pain. Since total splenectomy exposes a patient to the occurrence of overwhelming post-splenectomy infection, laparoscopic partial splenectomy has been increasingly popular over the past two decades because it preserves the immune function of the spleen. This technique should only be performed by a well-trained team because of the high risk of bleeding. The authors report the cases of three patients who underwent laparoscopic partial splenectomy: a 7-year-old girl with no relevant history with a 4.5-cm epidermoid cyst involving the lower pole of the spleen, a 13-year-old boy, type 1 diabetic on insulin therapy, with a 7-cm epidermoid cyst of the upper pole of the spleen and a 14-year-old girl, with no previous history, with a 6-cm upper pole epidermoid splenic cyst. Operating times were 2 h 30 min, 3 h and 4 h 30 min, respectively. The intraoperative blood loss was 100 mL, 350 mL and 300 mL, respectively. The length of hospital stay was 6 days for each patient. No blood transfusion was performed perioperatively. With a mean follow-up duration of 21 months (32 months, 21 months and 10 months, respectively), no complication or recurrence occurred.

Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.

BACKGROUND: Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. There is a large clinical and also genetic heterogeneity in BBS. Here, we report a patient with polydactyly, hyperechogenic kidneys increased in size with normal corticomedullary differentiation, anal imperforation, and malformation of genitals with presence of a genital tubercle with ventral urethral meatus associated with two unfused lateral genital swelling and absent urethral folds, in the context of 46, XY karyotype. METHODS: Karyotype and solo exome sequencing were performed to look for a genetic etiology for the features described in our patient. RESULTS: We identified a homozygous in-frame deletion of exons 4 to 6 in the BBS4 gene (NM-033028 (BBS4-i001): c.[(157-?)_(405 +?)del] p.(Ala53-Trp135del), which is classified as pathogenic variant. This analysis allowed the molecular diagnosis of BBS type 4 in this patient. CONCLUSION: Complex genital malformations are only reported in female BBS6 patients yet, and genital abnormalities and anal imperforation are not reported in male BBS4 patients to date. We discuss the possible hypotheses for this phenotype, including the phenotypic overlap between ciliopathies.