Salvatore Garofalo

The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life

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.

Successful medical treatment for ranula in children

OBJECTIVES We compare the outcome of medical treatment for ranula versus surgery in children. STUDY DESIGN Multicentric cohort study. METHODS The case series includes 37 children with ranulas (diameter 2.7 ± 1.5 cm). Eighteen patients, including 3 who had relapsed after either simple marsupialization or ranula removal alone, received oral nickel gluconate, mercurius heel, and glandula submandibularis suis D10/D30/D200. Fifteen cases underwent marsupialization with packing, and 2 underwent sublingual gland and ranula en-bloc excision. Two patients who recovered spontaneously shortly after diagnosis were excluded. RESULTS No recurrences occurred among medical patients. Of the 17 surgical patients, 3 treated with marsupialization with packing relapsed. With the 3 surgical failures from other centers a total of 6 of 20 relapses were considered. Swelling or tension was common in surgical cases but unusual in medical patients. CONCLUSIONS In this case series oral medical treatment for ranula was very effective and more effective than marsupialization with packing.

Laparoscopic versus Open Surgery in Complicated Appendicitis in Children Less Than 5 Years Old: A Six-Year Single-Centre Experience

Introduction. Acute appendicitis is the most common surgical emergency in the pediatric population. The peak incidence occurs in the first decade of life, while it is uncommon to face appendicitis in children younger than 5 years of age. Laparoscopy is now demonstrated to be the optimal approach also to treat complicated appendicitis, but in very young children this standardized operation is not always easy to perform. Material and Methods. From January 2009 to December 2015 we operated on 525 acute appendicitis, with 120 patients less than 5 years of age. Results. 90 children had a complicated appendicitis (localized or diffuse peritonitis): 43 (48%) were operated on by open approach and 47 (52%) by laparoscopy. The overall incidence of postoperative complications was greater in the open appendectomy group (63% versus 26%) and all severe complications requiring reintervention (6% of cases: 3 postoperative abscesses resolved with ultrasound guided percutaneous abscess drainage; 1 tubal surgery for salpingitis; 1 adhesion-related ileus requiring relaparotomy) were mostly associated with open surgery. Conclusions. Laparoscopic surgery resulted as the best approach for treating complicated appendicitis also in younger children, with minor and less severe postoperative complications compared to open surgery.

Biliary complications after hepatic trauma in children

Aim of the Study: In pediatric patients with liver trauma and hemodynamic stability, conservative treatment is acknowledged as the gold standard. Patients and Methods: We conducted a retrospective analysis of 116 consecutive pediatric patients (<14-year-old) observed at our institution for closed abdominal trauma from January 2010 to January 2016. Among these, 16 patients (13%) had hepatic trauma Grade II or more, according to Moore liver trauma injury score. Results: Only one patient underwent surgery for hemodynamic instability; all others children received conservative treatment according to the American Paediatric Surgical Association guidelines. Three patients had a biliary complication (2, 5%). two patients treated surgically by drainage insertion and one was managed conservatively. Conclusions: Biliary complications of liver trauma in children may require aggressive surgical approach in selective patients.

Fine tuning of nutritional therapy by using continuous glucose monitoring in an infant with a gastrointestinal malformation

A 4-month-old infant came to our attention for hyperglycemia during hospitalization for rectal bleeding and diarrhea. The baby was born at 35 weeks of gestation, with low weight (2290 g) and polyhydramnios. A diagnosis for longgap type 1 esophageal atresia, a very rare malformation, was made. Nutrition was performed through gastrostomy from the second day after birth, obtaining good growth and weight gain. The infant underwent traction of esophageal pouches (Foker technique) and gastrostomy at 3 months of age. One month after surgery, the baby was admitted to the emergency department for rectal bleeding and diarrhea. During rehydration with a solution containing glucose (5 %) and other electrolytes, hyperglycemia (395 mg/L or 20.8 mmol/L) and hyponatremia (128 mEq/L) were found. Glycemic measurements before and 2 h after meals showed a slight increase in glycemic values; viral studies in stool and blood resulted negative. The baby was discharged with a diagnosis of critical illness hyperglycemia during rectal bleeding after gastroenteritis. Clinical and nutritional follow-up was proposed. During a routine visit at 8 months of age, the infant showed low weight (6.140 kg, 2 SDS) and growth (68 cm, 0.94 SDS). According to the hypothesis of a low introduction of calories (60 mL/kg of artificial formula, four times a day through gastrostomy), we suggested an increase in the intake volume of meals. The baby had good milk transit tolerance. Thereafter, the baby developed again diarrhea associated with intense sweating and fine tremors after meals. Hematologic, electrolytes, hormonal profiles and milk protein allergy test resulted normal; we only observed episodes of hypoglycemia (40 mg/dL, 2.2 mmol/L) more than 2 h after meals. HbA1c was 46 mmol/mol (6.3 %), and glucose was present in the urinalyses (????). In order to investigate hypoglycemic episodes, we evaluated insulinemia that resulted elevated (421 mU/L) as well as C-peptide (39.9 ng/mL). To better investigate glycemic profiles, continuous glucose monitoring (CGM, G4 Platinum, Dexcom ), usually prescribed for type 1 diabetes management, was started as a diagnostic tool for a 7-day period. We observed hyperglycemic peaks immediately following meals and then hypoglycemic values after 2 h, with 19 % of time spent in hyperglycemia (above 180 mg/dL or 10 mmol/L) and 43 % in hypoglycemia (below 70 mg/dL or 3.9 mmol/L) (Fig. 1a). During hyperglycemic peaks, we took blood Managed by Antonio Secchi.