An early suspicion of intestinal volvulus allows the clinician to refer the patient to a tertiary center so to confirm the diagnosis and perform an appropriate follow-up in order to identify the proper time of delivery. The prognosis of the babies with prenatal intestinal volvulus depends on the length of the segment involved, on the level of intestinal obstruction, on the presence of meconium peritonitis and on the gestational age at birth. Our experience, according with the literature, suggests that ascites and absence of abdominal peristalsis are ultrasonographic signs that, in the third trimester of pregnancy, correctly lead to an immediate delivery intervention.
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.
Since cryptorchidism can cause infertility and early orchiopexy can improve fertility, we tried to determine whether medical and surgical treatment in the 1st year of life can improve testicular fertility. We concluded that this is the best time to treat cryptorchid tests.
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.
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