Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

Purpose: Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized.

Methods: Exome sequencing and positional mapping in seven families with cholestatic liver disease and negative clinical testing for known disease genes.

Results: KIF12, which encodes a microtubule motor protein with a tentative role in cell polarity, was found to harbor three homozygous likely deleterious variants in three families with sclerosing cholangitis.

Fetus-in-fetu. Imaging and pathology.

Fetus-in-fetu (FIF), also known as endoparasitic twin, is a form of asymmetric fetal duplication in which the abnormal developing embryo parasitizes the normal co-twin by attaching internally. Here, we report a case of FIF presented as an intra-abdominal cystic mass, which was first detected during an antenatal ultrasound examination of a 32-year-old Saudi mother. At 34 weeks and 4 days of gestation, she had spontaneous labor and delivered a baby boy.

Colonic neuroendocrine carcinoma in a child.

A 10-year-old boy with congenital immunodeficiency (X-linked agammaglobulinaemia) presented with loss of appetite and weight, right-sided abdominal pain, diarrhoea and low-grade fever. Radiological investigations with barium follow-through, CT, PET and octreotide scans revealed a primary caecal/ascending proximal colonic mass with liver and bony metastases. Urine screen for 5HIAA was positive.