M. Messina

Herlyn–Werner–Wunderlich syndrome: An “early” onset case report and review of Literature

Highlights • We describe a case of a 3 years old girl, with all features of Herlyn–Werner–Wunderlich syndrome (HWWS) who came to our attention for lower abdominal mass.• Only six cases are reported in Literature with early onset of this syndrome under 5 years.• The aim of this article is to share our experience and focus the attention on the importance of high level of suspicion of HWWS in neonatal period to early diagnosis and treatment.• The possible early presentation of this syndrome should be suspected in all neonates (females) with renal agenesia confirmed postnatally or with prenatal diagnosis.• An error of evaluation with planning of removal of mass, that can damage patients in term of chance for a successful reproductive outcome.• Our team consider HWWS as differential diagnosis in newborn with prenatal ultrasonography of a cystic mass behind the urinary bladder in the absence of a kidney and plan a pelvic ultrasound (with aim to identify an uterus, normal or dydhelfus, and presence or absence of pelvic mass), an examination under anesthesia and cisto-vaginoscopy, if it is necessary. A high level of suspicion, indeed, is the key to early diagnosis.

Pediatric Presentation of a Celiaco-mesenteric Trunk in Association with a Pelvic Bilateral Renal Ectopia: An Undescribed Association

Background: The celiac trunk presents its normal trifurcation in the 87% of cases reported in autoptic and radiological studies. Among variants the anatomical conformation known as celiaco-mesenteric trunk has an incidence of 1-2.8%. Case Report: We hereby report a 6 years old girl who presented with recurrent abdominal pain and bilious vomiting. MRI and CT scan, performed with the diagnostic suspicion of an aorto-mesenteric compass, showed the presence of a common origin of the celiac trunk and superior mesenteric artery. In addition, images revealed also the presence of a bilateral pelvic ectopia of kidneys, with renal arteries which took origin from iliac bifurcation. The patient, two months after, was submitted to surgery, during which we found the presence of an intestinal malrotation, instead of an aorto-mesenteric compass. Conclusion: An adequate evaluation of radiologic images and the use of 3D reconstruction permits to diagnose anatomic variants of celiac-mesentric artery.

Immunohistochemical detection of myosin heavy chain isoforms in human cremaster muscle

Cremaster muscle (CM) forms a thin network of fascicles, around the spermatic cord and testis, connected by loose areolar tissue forming the cremasteric fascia. CM has a non somitic embryologic origin, as it derives from mesenchymal differentiation of the gubernacular tip (1).Thus it is not to be considered a passive extension of internal oblique muscle. CM is composed both of striated and smooth muscle cells; it is innervated by genitofemoral nerve (2). Its striated fibres, in contrast with skeletal muscles, present with a multifocal innervation by multiple neuromuscular synapses (3). Myosin isoforms are the major determinant of the contractile and biochemical heterogeneity of skeletal muscle fibers. Non somitic muscles, such as extrinsic ocular muscles, show a distinct pattern of myosin heavy chains distribution. The aim of our study was to characterize the expression of myosin isoforms in CM fascicles; biopsy samples were obtained from cases of cryptorchidism, retractile testis and inguinal hernia, undergoing surgery. Immunohistochemistry confirmed the previously identified type 1 predominance (1) and showed a high occurrence of hybrid fibres, coexpressing two or more myosin isoforms. In contrast with age-matched limb muscles, persistence of developmental/neonatal myosin heavy chains was detected, beyond the determined timecourse of physiological shifting from immature isoforms (4). On the basis of shared peculiar embryological derivation, expression of superfast extraocular myosin MyH13 was also investigated on CM specimens, showing sarcoplasmic reactivity, undetectable in limb muscles. The high share of hybrid fibres, the persistence of immature myosin and MyH13/MyHCslow coexpression are peculiar features, suggesting a functional/biochemical individuality of CM, related with multiple innervation and distinct embryological development.