Jerome Loveland

Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report

Liver transplantation is an accepted treatment modality in the management of MSUD. To our knowledge, ours is only the second successful case to date of a patient with MSUD receiving an allograft from an RLD who is a heterozygous carrier for the disease. In view of the worldwide shortage of available organs for transplantation, heterozygote to homozygote transplantation in the setting of MSUD may provide a viable alternative for those awaiting transplantation. We report on the case of a two‐yr‐old infant with MSUD, who received a left lateral segment (segments II and III) liver transplant from his mother, a heterozygote carrier of one of the three abnormal genes implicated in MSUD. Post‐operative BCAA levels normalized in our patient and remained so on an unrestricted protein diet and during times of physiological stress. To date, this is only the second case of a successful RLD liver transplant in a child with MSUD. Preliminary results indicate that RLD liver transplants are at least equivalent to deceased donor liver transplants in the treatment of MSUD, although longer term follow‐up is required. Heterozygote to homozygote RLD transplant in patients with MSUD presents a new pool of potential liver donors.

Bowel obstruction in an infant with AIDS

AIDS accounted for approximately one quarter of all deaths in South Africa in 2000 and has become the country’s single biggest cause of death.1 Paediatric HIV infection is now a common cause of admission to hospital and a major contributor to childhood mortality.2 A recent study reported that 60% of admissions to an academic hospital in Durban (Kwa-Zulu Natal) were infected with HIV.3 We report a case of intestinal obstruction in an infant with HIV infection, the cause of which was only diagnosed at postmortem examination. A 2 month old female presented with a three day history of constipation, anorexia, and progressive abdominal distension. The child had been a full term, normal vaginal delivery to an otherwise well mother. Examination revealed a mildly dehydrated baby with a grossly distended but soft abdomen; no masses were palpable. Abdominal x ray examinationshowed multiple distended loops of small bowel, ultrasound examination was non-diagnostic, and contrast enema revealed a normal colon but was unable to adequately define the ileocaecal region. Repeat plain abdominal films 24 hours later showed features consistent with distal small bowel obstruction. At laparotomy, an inflammatory stricture …

Esophegeal replacement in children with AIDS

We report 2 human immunodeficiency virus-positive patients with refractory esophageal strictures secondary to candidiasis. They presented with progressive dysphagia and had suffered from oropharyngeal and/or esophageal candidiasis within the preceding 3 months. Both failed conservative management of these strictures, including systemic antifungal therapy, administration of proton pump inhibitors, and numerous attempts at stricture dilation, ultimately progressing to open transhiatal esophagectomy. Although challenging in the immunocompromised host, successful treatment of these strictures by gastric interposition is achievable with minimal morbidity.

Birth Prevalence of Anorectal Malformation in the Referral Area for the University of the Witwatersrand Tertiary Hospitals, South Africa

BACKGROUND Anorectal malformations (ARMs) are a major congenital anomaly in neonates. There is significant geographical variation in the birth prevalence varying from 1:1,500 to 1:5,000 live births. There is no published literature on the birth prevalence of ARM occurring within the referral area for The University of Witwatersrand tertiary hospitals in South Africa. METHODS Retrospective data were collected from the Pediatric Surgical Department, University of the Witwatersrand. Patient records for a 6-year period from January 2005 to December 2010 were obtained from Chris Hani Baragwanath Academic Hospital and Charlotte Maxeke Johannesburg Academic Hospital. The number of live births per year for a specific municipal district was obtained from the National Department of Health. The χ(2) test for trend test was used to determine statistically significance. RESULTS The birth prevalence for ARM in 2010 was shown to be 1:3,989 live births (2.5/10,000 live births) for the University of Witwatersrand tertiary hospital referral area. A statistically significant overall increase in the birth prevalence of ARM from January 2005 till December 2010 was demonstrated (p < 0.0001). The municipal districts of Johannesburg (p = 0.0015) and Ekurhuleni (p = 0.0066) revealed the greatest increase in birth prevalence. CONCLUSION This study has provided current statistics on the birth prevalence of ARM in the University of Witwatersrand tertiary hospital referral area, as well as demonstrating a positive incremental trend in the occurrence of this condition over a 6-year period. Future studies will examine the birth prevalence in several other provinces of South Africa. Results from the collective data will then be used to form conclusions regarding any regional or national changes in the birth prevalence of ARM as well as to identify any epidemiological trends.

Paediatric liver transplantation in Johannesburg: Initial 29 cases and prospects for the future

BACKGROUND The Wits Donald Gordon Medical Centre paediatric liver transplant programme is the second such unit in sub-Saharan Africa. Initiated in November 2005, it forms part of the centres solid organ transplant unit, comprising kidney, liver and simultaneous kidney-pancreas arms. Initially established in the private sector, we recently received government approval to expand our programme into the provincial sector and have performed transplants on several provincial-sector patients. Current challenges relate to the lack of appropriately trained paediatric sub-specialists, specifically critical care practitioners and hepatologists. METHODS Subsequent to institutional approval, a retrospective chart analysis of all paediatric liver transplants performed at our facility to date was conducted. RESULTS Defining children as those under 18 years of age, 29 patients have received a cadaveric liver transplant since 2005, using 16 whole livers, 10 reduced-size grafts, and 3 split segments; 13 were transplanted with biliary atresia, 3 hyperoxalurea, 3 autosomal recessive polycystic disease, 2 alpha-1 antitrypsin deficiency, and 2 idiopathic, with the remainder for a wide spectrum of other pathologies. Seven patients received combined liver-kidney transplants. There were 3 in-hospital mortalities. The remaining 26 patients are all long-term survivors. We describe 7 acute surgical morbidities in 6 patients, and 8 long-term surgical morbidities. One patient was subsequently re-transplanted in Cape Town. CONCLUSIONS Despite a shortage of organs, we have overcome a steep learning curve, with results comparable with other early series. The current threat to the continued viability of our unit is the lack of appropriately trained paediatric hepatologists and intensivists.

Mortality in paediatric burns victims: A retrospective review from 2009 to 2012 in a single centre

BACKGROUND Childhood mortality is high in low- and middle-income countries. Burns are one of the five leading causes of childhood injury mortality in South Africa (SA). While there is an abundance of literature on burns in the developed world, there are far fewer publications dealing with childhood mortality related to burns in Africa and SA. OBJECTIVE To describe the mortality of children admitted to a dedicated paediatric burns unit, and investigate factors contributing to reducing mortality. METHODS A retrospective review was performed of patients admitted to the Johnson and Johnson Paediatric Burns Unit, Chris Hani Baragwanath Academic Hospital, Johannesburg, SA, between May 2009 and April 2012. RESULTS During the study period, 1 372 patients aged ≤10 years were admitted to the unit. There were 1 089 admissions to the general ward and 283 admissions to the paediatric burns intensive care unit (PBICU). The overall mortality rate was 7.9% and the rate for children admitted to the PBICU 29.3%; 90.8% of deaths occurred in children aged ≤5 years. Of children admitted with an inhalational injury, 89.5% died. No child with a burn injury >60% of total body surface area (TBSA) survived. CONCLUSIONS Our overall mortality rate was 7.9%, and the rate declined significantly over the 3-year study period from 11.7% to 5.1%. Age ≤5 years, the presence of inhalational injury, burn injury >30% of TBSA and admission to the PBICU were significant risk factors for mortality.

Pediatric multifocal myofibroblastic tumors with involvement of the gallbladder: HIV- and Epstein-Barr virus–associated smooth muscle cell tumors

Epstein-Barr virus associated smooth muscle cell tumors are commonly found in immunocompromised patients. These tumors occur most commonly in patients with AIDS and with greater incidence in children. The incidence of gallbladder tumors in these patients is rare, however. We report the case of a 10-year-old female patient who presented to our unit. She is HIV positive and on antiretroviral treatment. She required an emergency cholecystectomy to relieve external compression of the common bile duct where an empyematous gallbladder was found. Histopathology confirmed the presence of an Epstein-Barr virus-associated smooth muscle tumor. She is noted to have other asymptomatic lesions. Surgical intervention is reserved for symptomatic lesions and improves the immunocompromised state, although there is a propensity for local recurrence of the tumor.

Favourable outcomes for the first 10 years of kidney and pancreas transplantation at Wits Donald Gordon Medical Centre, Johannesburg, South Africa

BACKGROUND It is important for centres participating in transplantation in South Africa (SA) to audit their outcomes. Wits Donald Gordon Medical Centre (WDGMC), Johannesburg, SA, opened a transplant unit in 2004. The first 10 years of kidney and pancreas transplantation were reviewed to determine outcomes in respect of recipient and graft survival. METHODS A retrospective review was conducted of all kidney-alone and simultaneous kidney-pancreas (SKP) transplants performed at WDGMC from 1 January 2004 to 31 December 2013, with follow-up to 31 December 2014 to ensure at least 1 year of survival data. Information was accessed using the transplant registers and clinical records in the transplant clinic at WDGMC. The Kaplan-Meier method was used to estimate 1-, 5- and 10-year recipient and graft survival rates for primary (first graft) kidney-alone and SKP transplants. RESULTS The overall 10-year recipient and graft survival rates were 80.4% and 66.8%, respectively, for kidney-alone transplantation. In the kidney-alone group, children tended towards better recipient and graft survival compared with adults, but this was not statistically significant. In adults, recipient survival was significantly better for living than deceased donor type. Recipient and graft survival were significantly lower in black Africans than in the white (largest proportion in the sample) reference group. For SKP transplants, the 10-year recipient survival rate was 84.7%, while kidney and pancreas graft survival rates were 73.1% and 43.2%, respectively. CONCLUSION Outcomes of the first 10 years of kidney and pancreas transplantation at WDGMC compare favourably with local and international survival data.

Repair of tracheo-oesophageal fistula secondary to button battery ingestion: A combined cervical and median sternotomy approach

A three-year-old child developed a large tracheo-oesophageal fistula secondary to a button battery being lodged in the upper oesophagus for 36 hours. The diagnosis was confirmed with a contrast swallow. Operative access was gained through a combined right cervical incision and complete median sternotomy. Repair of the fistula required a segmental resection of both the trachea and oesophagus followed by primary anastomosis.

Reversible small bowel obstruction in the chicken foetus.

Background: Ligation of the embryonic gut is an established technique to induce intestinal obstruction and subsequently intestinal atresia in chicken embryos. In this study, we modified this established chicken model of prenatal intestinal obstruction to describe (1) the kinetics of morphological changes, (2) to test if removal of the ligature in ovo is possible in later embryonic development and (3) to describe morphological adaptations following removal of the ligature. Materials and Methods: On embryonic day (ED) 11, small intestines of chick embryos were ligated micro surgically in ovo. In Group 1 (n = 80) gut was harvested proximal and distal to the ligation on ED 12-19. In Group 2 (n = 20) the induced obstruction was released on day 15 and gut was harvested on ED 16-19. Acetyl choline esterase staining was used as to assess resulting morphological changes. Results: A marked intestinal dilatation of the proximal segment can be seen 4 days after the operation (ED 15). The dilatation increased in severity until ED 19 and intestinal atresia could be observed after ED 16. In the dilated proximal segments, signs of disturbed enteric nervous system morphology were obvious. In contrast to this, release of the obstruction on ED 15 in Group 2 resulted in almost normal gut morphology at ED 19. Conclusion: Our model not only allows the description of morphological changes caused by an induced obstruction on ED 11 but also-more important - of morphological signs of adaptation following the release of the obstruction on ED 15.