Rita L. Romaguera

MULTIVISCERAL TRANSPLANTATION FOR MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME

BACKGROUND Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive disorder causing a functional neonatal bowel obstruction. Its etiopathogenesis is not fully understood. The prognosis is poor in the majority of cases; most patients die before the age of 6 months. In this report, we describe our experience with three patients with MMIHS in whom multivisceral transplantation was performed. METHODS Three patients with MMIHS underwent multivisceral transplantation. All patients were females with a history of long-term total parenteral nutrition (TPN) with TPN-related cholestatic liver disease. RESULTS Patient 1 died 17 months after transplantation because of aspiration after revision of her feeding gastrostomy. At the time of death, the graft was functioning and the patient was completely off TPN. Patient 2 is alive 17 months after transplant. She is a fully functional, active 2-year-old and has also recently begun oral feeding after intensive rehabilitation. Patient 3 died on day 44 of multisystem failure. CONCLUSIONS This is the first report in the literature of multivisceral transplantation for MMIHS. Although one of the three patients died 44 days after surgery from multiorgan system failure, the other two patients had long-term survival after transplant and both grew well on enteral feeding alone. One patient died 17 months from a non-transplant-related complication, while the other is living at home off of TPN, with almost complete dietary rehabilitation 17 months after transplant. Our case reports suggest that multivisceral transplantation is a valuable therapeutic option for patients affected by MMIHS with TPN-induced liver failure.

Sonographic diagnosis of caudal regression in the first trimester of pregnancy.

Caudal regression syndrome (CRS) represents a continuum of congenital anomalies that may include incomplete development of the sacrum and, to a lesser extent, the lumbar vertebrae, disruption of the distal spinal cord, and extreme lack of growth of the caudal region. 1 First-trimester prenatal diagnosis of CRS is challenging because of incomplete ossification of the sacrum at that time.2 Most case reports of CRS have occurred during the second trimester. 3-10 We report a case of CRS diagnosed during the first trimester on the basis of transvaginal sonography.

A Hydatidiform Mole in a Postmenopausal Woman A Case Report and Review of the Literature

Gestational trophoblastic disease occurs in less than 1 per 1200 pregnancies in the United States. The spectrum of this disease ranges from benign hydatidiform mole to trophoblastic malignancy (placental-site trophoblastic tumor and choriocarcinoma). Benign gestational trophoblastic disease generally occurs in women of reproductive age and is extremely rare in postmenopausal women. To our knowledge, our case represents only the third description in the world literature of a benign complete hydatidiform mole in a woman with a history of amenorrhea greater than 1 year. We describe the case of a 61-year-old postmenopausal woman who underwent an emergent total abdominal hysterectomy due to uncontrollable vaginal bleeding associated with an increased serum beta-human chorionic gonadotropin level. The resected uterus contained an endometrial, cystic, grapelike tumor. Microscopic examination demonstrated hydropic degenerated villi with a circumferential trophoblastic cell proliferation and moderate atypia, consistent with a complete hydatidiform mole. The morphologic and immunophenotypic characteristics are presented, as well as the results of a literature review.

Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum?

Caudal dysplasia syndrome (CDS) is associated with hypoplastic lower extremities, caudal vertebrae, sacrum, neural tube, and urogenital organs. Sirenomelia is characterized by a single lower extremity, absent sacrum, urogenital anomalies, and imperforate anus. There is controversy in the medical literature about whether sirenomelia and CDS are part of the spectrum of the same malformation. Patients with CDS and sirenomelia were identified from our pathology files from 1991 to 2006. Maternal history, pathologic examination, and radiographs were collected and tabulated. We found 9 cases with CDS and 6 with sirenomelia. Fully 7 of 9 patients with CDS (77.7%) versus none of sirenomelic babies were infants of diabetic mothers. Congenital heart disease was present in 5 patients with CDS (55.5%) and none of the infants with sirenomelia. Of 9 children with CDS 2 (22.2%) had bilateral renal agenesis versus 66% of sirenomelics. Single umbilical artery was found in 33% of cases with CDS and 100% of children with sirenomelia. External genitalia were ambiguous in 2 of 9 patients (22.2%) with CDS and in all patients with sirenomelia. Imperforate anus was found in 10 cases (66.6%) divided as 4 of 9 babies with CDS (44.4%) and all patients with sirenomelia. Three patients with CDS had concomitant maternal diabetes mellitus and chronic hypertension. These babies also had cleft lip and palate. Congenital heart disease was found in 55.5% of cases with CDS and none of the children with sirenomelia. We conclude that although CDS and sirenomelia share many similar features, they are two different entities.

Angiosarcoma of the Bladder: Case Report and Review of the Literature

Our objective was to present a new case of angiosarcoma of the bladder after therapeutic radiation of the prostate, and discuss the treatment and clinical course of this rare tumor; the role of multimodality treatment is also discussed. We report a case of angiosarcoma of the bladder. Presentation, clinical course, and treatment were outlined and discussed. A MEDLINE search of all reported cases of angiosarcoma in the English language literature was performed. Thirteen previous cases of bladder angiosarcoma have been reported and three previous cases have been reported after therapeutic radiation. Hematuria was the most common presentation. Overall survival is poor, with 5-year survival rates at 35%. Longer-term survival has been demonstrated in patients who have had a multimodal approach to treatment, which combines radical surgery with chemotherapy and radiotherapy. Angiosarcoma of the bladder is a rare disease with overall poor prognosis. Optimal treatment has not been defined, but multimodality approaches appear to have a survival benefit.

Pulmonary embolism with bone fragments following vertebral body marrow infusion for tolerance induction

Protocols of donor bone marrow infusion for tolerance induction are receiving increasing attention in clinical trials of organ allotransplantation. We report pulmonary embolism with bone fragments following vertebral body marrow infusion in a recipient of a liver and intestinal transplant. Even though pulmonary embolism with bony microfragments has been widely described following bone marrow transplantation, the use of single, high-dose donor bone marrow infusion and/or multiple infusions currently under clinical investigation for induction of donor specific unresponsiveness, may warrant the implementation of additional steps in the vertebral body marrow processing technique to decrease or eliminate the component of bony microfragments in the final preparation.

Invasive fungal adenoiditis

Acute fulminant invasive fungal sinusitis (AFIFS) is an uncommon infection of the paranasal sinuses, yet a feared pathologic entity given reports of its high mortality rate (18%-100%) and visual or neurologic morbidity derived from resection of involved tissues surrounding the sinuses. We report a case of invasive fungal adenoiditis as a separate, noncontiguous focus of disease in a patient treated for AFIFS.

Open lung biopsy in pediatric patients with respiratory failure after abdominal transplantation.

Abstract:  To understand the utility of open lung biopsy (OLB) in the evaluation of respiratory failure in pediatric abdominal organ transplant we reviewed the records of nine children in this patient population who underwent an OLB. Eight of nine patients had undergone a previous non‐diagnostic bronchoalveolar lavage. Biopsies were performed at the bedside in the pediatric intensive care unit and tissue was processed by the Department of Pathology with special stains for infectious agents. There were no significant complications of OLB. A specific treatable etiology was identified in four patients (respiratory syncytial virus, adenovirus, graft‐vs.‐host disease and post‐transplant lymphoproliferative disease), leading to a change in therapy and survival in two. Overall survival was 44%. Given the low morbidity, OLB as performed in this study appears appropriate in this patient population.