A. Franchella

Carcinoid tumors of the appendix in children

Abstract We report ten cases of carcinoid tumor of the appendix observed in children from 1988 to 1996. The patients included six females and four males with an average age of 13 years at presentation. They were admitted after complaining of pain in the lower abdominal quadrant. In eight children who presented with symptoms of acute appendicitis, the tumor was located at the tip of the appendix. Diagnosis was performed after appendicectomy (AE) and pathologic examination, which revealed a tumor slightly under 1 cm in size. Two other children were admitted with clinical signs of peritonitis due to larger tumors measuring more than 2 cm on the base of the appendix. One patient underwent a cecectomy, the other a right hemicolectomy. For all patients follow-up was 3 years, and all recovered fully. According to these findings and a review of the literature, we suggest conservative surgical procedures in children. More than 70% of these tumors are localized at the tip of the appendix and represent an incidental pathologic finding during AE; AE alone is curative. Patients with a bulky tumor of the appendicular base measuring 2 cm and invading the serosa and mesoappendix without metastases may be treated with a cecectomy; ileocecal resection may be indicated in cases where the tumor has infiltrated tissue beyond the cecum with localized metastases and in patients with incomplete gross resection. Right hemicolectomy is questionable in this age group and restricted to rare conditions.

Autosomal recessive Bethlem myopathy

Background: Bethlem myopathy is a well-defined clinical entity among collagen VI disorders, featuring proximal muscle weakness and contractures of the fingers, wrists, and ankles. It is an early-onset, slowly progressive, and relatively mild disease, invariably associated to date with heterozygous dominant mutations in the 3 collagen VI genes. We have characterized the clinical, laboratory, and genetic features of autosomal recessive Bethlem myopathy in 2 unrelated patients. Methods: This study is based on clinical, histochemical, immunocytochemical, and electron microscope evaluation of the muscle and dermal fibroblasts, CT imaging of the muscles, and biochemical and molecular analysis. Results: Both patients carry a truncating COL6A2 mutation (Q819X; R366X) associated with missense changes in the partnering allele lying within the C2 domain of the α2(VI) chain (D871N; R843W-R830Q). They show decreased amounts of collagen VI in the basal lamina of muscle fibers and in dermal fibroblast cultures and altered behavior of collagen VI tetramers. Biochemical studies supported the pathogenic effect of identified amino acid substitutions, which involve strictly conserved residues. Conclusions: The reported patients illustrate the occurrence of Bethlem myopathy with a recessive mode of inheritance. This observation completes the hereditary pattern in collagen VI myopathies with both Ullrich congenital muscular dystrophy and Bethlem myopathy underlined by either recessive or dominant effecting mutations. This finding has relevant implications for genetic counseling and molecular characterization of patients with Bethlem myopathy, as well as for genotype-phenotype correlations in collagen VI disorders.

Cystathionine beta‐synthase c.844ins68 gene variant and non‐syndromic cleft lip and palate

Non‐syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with substantial clinical and social impact and whose causes include both genetic and environmental factors. Folate and homocysteine (Hcy) metabolism have been indicated to play a role in the etiology of CL/P, and polymorphisms in folate and Hcy genes may act as susceptibility factors. We investigated a common polymorphism in the cystathionine beta‐synthase (CBS) gene (c.844ins68) in 134 Italian CL/P cases and their parents using the transmission disequilibrium test (TDT). Although no overall linkage disequilibrium was observed, considering the parent‐of‐origin transmission of the CBS 68 bp insertion a significant (P = 0.002) transmission distortion was detected. When children receive the c.844ins68 allele from the mother compared to the father, they show a 18.7‐fold increase in risk for CL/P. This evidence suggests CBS as a candidate gene for CL/P and supports a role of maternal‐embryo interactions in the etiology of CL/P.

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.

Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5–9, received 3–5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P = 0.01) in 5 of the 6 patients. Motor function did not change. Respiratory function deteriorated in all. CsA treatment corrected mitochondrial dysfunction, increased muscle regeneration, and decreased the number of apoptotic nuclei. Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients, and that it is well tolerated. These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised.

Eosinophilic cystitis and nephrogenic adenoma of the bladder: a rare association of 2 unusual findings in childhood

Neither eosinophilic cystitis nor nephrogenic adenoma is often diagnosed in children, with few pediatric cases being reported in the literature. Although these maladies share the same predisposing conditions, namely, chronic irritation or injury to the urothelium and lower urinary tract and symptoms such as dysuria, hematuria, and urinary frequency, their concomitance is exceptional. Herein, we report the case of an 8-year-old boy with a previous history of bladder surgery presenting histologically diagnosed eosinophilic cystitis and nephrogenic adenoma.

A radiopharmaceutical in the diagnosis of congenital biliary atresia.

Diethyl-HIDA, a new hepatobiliary radiopharmaceutical labeled with99mTc, was used in the preoperative diagnosis of biliary atresia and in the postoperative evaluation of hepatic-porto-enterostomy function. The good results obtained in the four first cases suggest extensive use of the method, with the aim of a more precocious and more attendable diagnosis.

Intraoperative scrotal expansion before prosthesis insertion

The use of an intraoperative sustained limited expansion (ISLE) tissue expander before placing a testicular prosthesis in a hypoplastic scrotum is described.

Suction lipectomy of a congenital lipomatous hamartoma

A 4-month-old baby with a diffuse lipomatous hamartoma of the lower limb was operated upon by repeated suction lipectomies. The result 2 years later was satisfactory.