Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastrointestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313ΔTATC; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.

Donor CYP3A5 genotype, recipient age and, to a lesser extent, donor gender appear to be associated with tacrolimus disposition on day 1 after transplant. This suggests that increasing the starting tacrolimus doses in paediatric patients under 6 years of age who receive a graft from a male extensive metabolizer may enhance the possibility of their tacrolimus levels reaching the therapeutic range sooner.

We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From her diagnosis at age 2 she had shown autistic behavior, was unable to walk unaided and her sight was impaired by cataracts. By age 7 she developed end‐stage liver disease. After a soul‐searching discussion within the transplantation team, she was treated with LT as this represented her only lifesaving option. At 1‐year follow‐up, her lathosterol levels had returned to normal (0.61 mg/dL from 13.04 ± 2.65) and her nutrition improved. She began exploring her environment and walking by holding onto an adult's hand and then independently. Her brain magnetic resonance imaging (MRI) had shown a normal picture at age 1, whereas a volume reduction of white matter with ex vacuo ventricular dilatation and defective myelinization were observed before transplant. At 5‐year follow‐up, a complete biochemical recovery, an arrest of mental deterioration and a stable MRI picture were achieved, with a return to her every day life albeit with limitations. Timely liver transplant in defects of cholesterol biosynthesis might arrest the progression of neurological damage.

Benign intra-abdominal cystic masses in infancy are fairly uncommon and their etiopathogenesis, histology and clinical presentation differ significantly. Our aim is to report our experience in their treatment in order to discuss the best diagnostic and treatment modality. The medical records of 5 children (2M, 3F) with cystic intraabdominal masses referred to our hospital between November 2012 and September 2016, were retrospectively reviewed. All patients underwent open surgery and subsequent histopathologic analysis. Different clinical presentations, localizations of the masses, diagnostic tools, surgical approaches, histological examinations and outcomes were reviewed. Patients mean age was 5.4 years (range: 8 months-9 years). Two patients presented recurrent abdominal pain and abdominal distension; 1 patient had a palpable mass discovered incidentally and 2 complained acute abdominal pain. Routine laboratory tests, tumor markers and abdominal ultrasound were immediately done in all patients. Three patients underwent MRI and 1 abdominal CT. At laparotomy 2 hepatic cysts, 2 mesenteric cyst and 1 retroperitoneal cyst were discovered. Histology reports described: 1 hepatobiliary cystadenoma, 1 benign hepatic hamartoma and 3 cystic lymphangiomas (1 retroperitoneal and 2 mesenteric). There were no major postoperative complications, deaths, or recurrences in our series (follow-up 3-24 months). Despite the rarity of these lesions, benign cystic abdominal masses in children are not so uncommon and should be considered as causes of acute abdominal pain. The differential diagnosis is not always possible preoperatively. In our series, radical excision of the lesions was possible in all cases, allowing reliable histological results and avoiding recurrences.