Red Cross Children's Hospital Research Articles

Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype.

Only one study has reported on the genetic basis of spinal muscular atrophy (SMA) in South African subjects. This was conducted in the Johannesburg region and has suggested that black South Africans only (indigenous Africans) differ from the norm. We have explored this further by DNA studies in 30 unrelated and racially diverse patients who reside in the Western Cape, and who were assessed as SMA subjects according to the internationally accepted inclusion criteria for SMA. These subjects were seen at the neurology clinic at Red Cross Children's Hospital in Cape Town during the period 1980-2001. Four had the type 1 form of SMA, 16 had type 2 and 10 had type 3. All patients were found to be homozygous for the loss of either exon 7 or exons 7 and 8 of the SMN1 gene. Six additional patients had anterior horn cell disease but were negative for the SMN1 gene deletion. All six had exclusion features listed in the international guidelines. This study shows that all patients from the Western Cape, which included 12 black South Africans, are no different genetically or phenotypically from the internationally recognized form of typical SMA.

Intrahepatic fetus-in-fetu: A case report and review of the literature

The authors report the third case since 1964 of fetus-in-fetu presenting at Red Cross Children's Hospital. A fetal liver abnormality was detected during routine antenatal ultrasound scan, and the postnatal diagnosis of an intrahepatic, multiple fetus-in-fetu was made with abdominal ultrasound scan, plain radiograph of the abdomen and computed tomography. The mass was removed surgically by hemihepatectomy when the patient was 4 months of age. Imaging and the macroscopic and microscopic appearances of the abnormality confirmed the diagnosis and amplified it to include an adjacent teratoma. Multiple small subcapsular and perimass vascular hamartomas were coincidentally discovered in the liver. Two of the 3 nodules within the amniotic-lined cavity of the intrahepatic mass individually comply with the accepted criteria for fetus-in-fetu, and the third nodule has the accepted features of a benign teratoma. The existence of multiple fetus-in-fetu and fetus-in-fetu combined with a teratoma, is recorded in the medical literature. The imaging as well as the macroscopic and microscopic features are illustrated.

Are children with clefts underweight for age at the time of primary surgery?

Children with clefts, especially those with a cleft palate, have an impaired sucking mechanism and are therefore prone to nutritional problems. This study was undertaken to determine whether children with clefts of the lip and/or palate are underweight for age at the time of primary surgery. Underweight for age was defined as being less than 80 percent of expected weight for age or below the 3rd percentile as plotted on standard percentile charts. The records of all children with clefts seen at the Red Cross Children's Hospital between 1976 and 1996 were reviewed. Of these 740 records, 100 were excluded for inadequate data (47), severe systemic syndrome (27), no operation done (22), or craniofacial cleft (4). The records of 640 children were thus included; 195 (30.5 percent) were underweight for age. By comparison, only 13.7 percent of a similar group of noncleft controls (n = 872) were underweight for age. The difference between these two groups was highly significant (p < 0.01). Factors that influenced weight at the time of primary surgery were type of cleft and age at the time of surgery. Children with cleft palate, whether associated with a cleft lip or not, were found to be more underweight for age than those with an isolated unilateral cleft lip (p = 0.008). Children who had surgery after the age of 1 year were 1.5 times more likely to be underweight for age than children who had surgery under 1 year of age (p < 0.01). Children with isolated cleft palates who were underweight for age had a tendency toward a higher fistula rate (36 percent) than those of normal weight (24 percent) (p = 0.18).

Are Children with Clefts Underweight for Age at the Time of Primary Surgery?

Children with clefts, especially those with a cleft palate, have an impaired sucking mechanism and are therefore prone to nutritional problems. This study was undertaken to determine whether children with clefts of the lip and/or palate are underweight for age at the time of primary surgery. Underweight for age was defined as being less than 80 percent of expected weight for age or below the 3rd percentile as plotted on standard percentile charts. The records of all children with clefts seen at the Red Cross Children's Hospital between 1976 and 1996 were reviewed. Of these 740 records, 100 were excluded for inadequate data (47), severe systemic syndrome (27), no operation done (22), or craniofacial cleft (4). The records of 640 children were thus included; 195 (30.5 percent) were underweight for age. By comparison, only 13.7 percent of a similar group of noncleft controls (n = 872) were underweight for age. The difference between these two groups was highly significant (p < 0.01). Factors that influenced weight at the time of primary surgery were type of cleft and age at the time of surgery. Children with cleft palate, whether associated with a cleft lip or not, were found to be more underweight for age than those with an isolated unilateral cleft lip (p = 0.008). Children who had surgery after the age of 1 year were 1.5 times more likely to be underweight for age than children who had surgery under 1 year of age (p < 0.01). Children with isolated cleft palates who were underweight for age had a tendency toward a higher fistula rate (36 percent) than those of normal weight (24 percent) (p = 0.18). (Plast. Reconstr. Surg. 103: 1624, 1999.)

Southern Africa report

One aspects of paediatric trauma medicine that really appealed to me when I entered this field just over 10 years ago, was the challenge of non-operative management of blunt injuries....

Pulmonary artery banding: adequacy and long-term outcome.

Pulmonary artery banding remains a palliative option for patients with congenital heart disease and excessive pulmonary blood flow, if there is unfavourable anatomy or frail condition. In contrast to more developed countries, our patients at Red Cross Children's Hospital, Cape Town, often present to medical services late and in poor nutritional condition. We retrospectively reviewed patients undergoing pulmonary artery banding to determine major variables that influenced long-term outcome. In a 10-year period ending June 1992, 135 consecutive patients underwent pulmonary artery banding; 89 with ventricular septal defect type non-mixing disorders, and 46 with mixing or complex disorders. The median age was 3.0 months and weight 3.5 kg with 74.8% of patients weighing less than the third percentile (NCHS adapted), and 39.3% had an additional serious medical illness. Pulmonary banding mortality was 8.1%, and was higher in neonates (22.2%), P = 0.04) but was not related to congenital disorder, associated medical illness, or associated coarctation or interrupted aortic arch. The pulmonary band was inadequate at follow-up in 28.9%, which occurred more commonly if banding was necessary before 3 months of age (41.5%, P = 0.003) but was not related to weight, congenital disorder or associated respiratory infection. Sixty patients (44.4%) have now proceeded to definitive repair with a mortality of 23.3%, which was increased if the pulmonary band was inadequate at the time of definitive repair (44.4%: P = 0.02), but was not related to the congenital disorder. An inadequate pulmonary artery band adversely affects outcome and demands further aggressive management prior to definitive repair.

The aetiology of learning disability in preschool children with special reference to preventability.

The aims of the study were to determine the aetiology of moderate and severe learning disability in preschool children in Cape Town, to consider the causes by race and to assess the degree of preventability. All children under the age of 6 years who presented to the Developmental Assessment Clinics at the Red Cross Children's Hospital with a developmental quotient of less than 50 over a 1-year period were included. The Development Assessment Clinics form a regional multidisciplinary service for the evaluation of preschool children with development disabilities. Over the 12-month period, 232 children were identified, of whom 65% were Coloured, 32% African and the remaining 3% white. This roughly corresponds with teh breakdown of births by race in the region. Regarding the aetiology, in 45% the disability was prenatal in origin, in 17% perinatal, in 9% postnatal and in a quarter it was idiopathic. In the Coloured and white children, the cause in over a half arose prenatally and in 8.3% postnatally. In contrast, the cause in less than a third of the African cases arose in the prenatal period, but 36% resulted from perinatal complications. More of the African children had multiple disabilities and additional disabilities were more common in the perinatal and postnatal categories. Forty per cent of all cases were considered to be preventable, 16% with existing knowledge and current practice. There was no significant difference in preventability between the races.

Comparison of total immunoglobulin G and subclass response (IgG I — IV) to Helicobacter pylori infection in children versus adults : [formula omitted]1, N. Israel 1, A. Lastovica 2, and B.D. Gold 1. Department of Pediatrics, Emory University School of Medicine, Centers for Disease Control and Prevention, Atlanta, GA 1; Dept. of Med. Microbiology, Red Cross Children's Hospital, Cape Town,

Comparison of total immunoglobulin G and subclass response (IgG I — IV) to Helicobacter pylori infection in children versus adults : [formula omitted]1, N. Israel 1, A. Lastovica 2, and B.D. Gold 1. Department of Pediatrics, Emory University School of Medicine, Centers for Disease Control and Prevention, Atlanta, GA 1; Dept. of Med. Microbiology, Red Cross Children's Hospital, Cape Town,

Long-term clinical, manometric, and histological evaluation of obstructive symptoms in the postoperative Hirschsprung's patient

One hundred seventy-eight of 326 patients had surgery for Hirschsprung's disease at Red Cross Children's Hospital (1957 to 1990) agreed to participate in a recall follow-up study. Assessment of the postoperative outcome of the Swenson, Duhamel, and Soave procedures included manometric evaluation in 43 patients by perfused-tube and balloonseries techniques. Rectal suction biopsies were performed for patients who had persistent problems with stool evacuation. One hundred fifteen of the 178 patients were more than 4 years of age, and long-term functional outcome could be assessed. Although good results were obtained in 94% overall, 16 had clinical evidence of a degree of perrsisting obstruction. Results of manometric assessment of anorectal function in these patients were not significantly different from those of 28 patients who had normal stool evacuation. A biopsy was performed in 14 of the 16 patients who had symptoms of obstruction postoperatively, and abnormal histological features were noted. There was aganglionosis in four, features of neuronal intestinal dysplasia in nine, ganlioneuromatosis of the colon in one. The results of two biopsies were entirely normal. Implications of Postoperative dysfunction after surgery for Hirschsprung's disease are discussed, and a protocol for investigation and management is proposed.

Tracheobronchial foreign bodies experience at red cross children's hospital, 1985–1990: A.G. Linegar, U.O. van Oppel, S. Hegemann, et al. S Afr Med J 82: 164–167, (September), 1992

Tracheobronchial foreign bodies experience at red cross children's hospital, 1985–1990: A.G. Linegar, U.O. van Oppel, S. Hegemann, et al. S Afr Med J 82: 164–167, (September), 1992

Acquired aganglionosis following surgery for Hirschsprung's disease: a report of five cases during a 33-year experience with pull-through procedures.

Acquired Hirschsprung's disease is a rare and controversial form of colonic aganglionosis. Little is known about its aetiology and pathogenesis. We report five cases encountered amongst 173 long-term follow-up patients treated for classical Hirschsprung's disease between 1957 and 1990 at the Red Cross Children's Hospital, Cape Town, and review the current literature. The clinical and pathological findings of the cases have been studied to explore possible aetiological mechanisms. Our cases, like most of those previously reported, developed obstructive symptoms and acquired aganglionosis in pulled-through bowel which had been previously confirmed as ganglionated. Two patients had histological evidence of hyaline fibrosis of blood vessels in the segment of bowel with acquired aganglionosis. Such fibrosis and other features attributable to regional hypoxia were not found in the other three cases. It is suggested that ischaemia with fibrosis may have a pathogenetic role in some, but not all, cases of acquired Hirschsprung's disease. A plea is made for patients developing recurrent symptoms of Hirschsprung's disease, after adequate surgical correction, to be fully studied with repeated sequential biopsies in order to gain a better understanding of the entity.

Abdominal wall and psoas abscesses in children

Seventy-seven cases of pyogenic abdominal wall abscess and 33 cases of psoas abscess admitted to the Red Cross Children's Hospital are reviewed separately. The difficulty encountered in diagnosis, particularly in deep-seated abdominal wall abscesses, is emphasised as resulting in delays in treatment. Ultrasound accurately delineated the abscess in 80% of cases submitted for this investigation. Surgical drainage proved effective therapy, and Staphylococcus aureus was the causative organism in more than 80%. No long-term sequelae were encountered.

Abdominal tuberculosis in children ? surgical management

During the period 1980–1989, 95 patients, mean age 5 years, with abdominal tuberculosis (ATB) were seen at the Red Cross Children's Hospital. Eighty per cent were malnourished. Apart from fever, loss of weight, and failure to thrive, symptoms of abdominal pain, vomiting, and diarrhoea predominated. Abdominal distension (86%) and a palpable mass (57%) were the most common physical findings. Sixty-three per cent had radiological evidence of chest disease. Abdominal ultrasound was useful in identifying ascites and distribution of lymph node masses. Fifty of the 95 patients were managed on the surgical unit and the predominant involvement was: peritoneal 21, nodal 15, enteric 11, and undetermined 3. Thirteen of this group developed one or more complications — perforation (4), obstruction (7), abscess or fistulae (5), and haemorrhage (1). Surgery involved diagnostic laparotomy, extra-abdominal biopsy, and management of the complications. Emergency surgery was conservative. Definitive surgery for stricture-plasty, resection, and stoma closure was delayed at least 8 weeks to allow for chemotherapeutic effect. Uncomplicated TB responded rapidly to therapy. There were no deaths in this group. Thirty-seven of the 45 “medical” cases made an uncomplicated recovery on anti-TB therapy. Three died due to generalised disease, 5 had complications (chylous ascites 2, protein-losing enteropathy 3) and 3 had relapse of disease due to poor compliance. The morbidity and mortality of this ubiquitous disease can be greatly reduced by timely diagnosis, which often requires early recourse to diagnostic laparotomy, and appropriate surgery and supportive care for complicated disease.

Abdominal complications of Ascaris lumbricoides in children

Human infestation with Ascaris lumbricoides is common in tropical and subtropical areas and is responsible for 20% of acute admissions annually to the surgical wards of the Red Cross Children's Hospital. Of the 225 children with symptomatic ascariasis seen during the 5-year period 1985–1989, 66% were intestinal, 30% hepato-biliary, and 4% pancreatic. Real-time ultrasound was the method of choice for diagnosis of invasion of the biliary and pancreatic systems. Eighty-four per cent resolved within 3 days after a short transient illness. Endoscopic retrograde cholangio-pancreatography was performed 15 times in 13 children when conservative measures failed and hepato-biliary infestation persisted. Complete removal of common bile duct worms was achieved in 55%. Thirty-seven (16%) were operated upon for deteriorating intestinal obstruction or persistent biliary and complicated hepatic disease. Indications for surgery are suspicion of ischaemic bowel, persistence of common bile duct worms for more than 4–6 weeks, liver disease, and persisting pseudocyst of the pancreas.

Diaphyseal Primary Subacute Osteomyelitis in Children

Six patients with subacute diaphyseal osteomyelitis of 200 with acute osteomyelitis who were seen and treated at the Red Cross Children's Hospital in a 3-year period (1985-1987) are reported. All six patients had a history of a minimum of 2 weeks' duration and the radiographic picture of a linear periosteal reaction, which was either single or laminated. This radiographic picture was indistinguishable from round cell tumors of bone. The final diagnosis was established by a histology consistent with a subacute osteomyelitis. In two patients, a positive culture of Staphylococcus aureus was obtained. All of the patients healed after treatment with cloxacillin. Radiographic resolution was noted in all patients within 6 months of treatment.

Circumcision in South Africa

Still remains the commonest reason. The arguments for requesting circumcision by the mother are the same as outlined by King and coauthors. In this country most circumcisions are performed privately. In our public hospitals, circumcision are supposed to be performed only for medical reasons. The following are the statistics from the Red Cross War Memorial Children's Hospital and the Mowbray Maternity Hospital in Cape Town, both teaching hospitals of the University of Cape Town. During a 4-year period 1985-1988, 276 circumcisions were performed at the Red Cross Children's Hospital. The ages ranged from 3 months to l0 years none in the neonatal period. The reasons for circumcision and the complications are shown in Table 1. Despite the policy in our public hospitals of performing circumcisions for medical reasons only, the most common reason was request by mother and several were for Muslim ritual reasons. There were 30 referrals for complications following a circumcision performed elsewhere. There were 40 complications, as shown in Table 1, for which 32 revision circumcisions were

Tracheostomy in children — The Red Cross War Memorial Children's Hospital experience 1980–1985

During the 6 years (1980–1985) at The Red Cross Children's Hospital 293 children required a tracheostomy during treatment of a variety of disorders. Of these children 44% were under 1 year of age. Indications are discussed of which the commonest was LTB. Of the 3500 children seen with laryngotracheobronchitis (LTB) 4.6% had a tracheostomy—28% of those requiring airway intervention. Overall 67% of the children were decannulated within 10 weeks and 92% within a year. For 56% one or more further procedures prior to decannulation were required, including 34 children who required a laryngotracheoplasty. Obstructing stomal granulation tissue had to be removed from 51 children and suprastomal collapse was a cause of decannulation failure in 52 children. Use of an expiratory valve as an aid to decannulation is discussed. Five children died of tracheostomy airway complications and 25 children of a medical disorder. One complication, laryngeal incompetence, was particularly associated with herpetic laryngeal ulceration. Staphylococcus aureus and Hemophilus influenzae were the main organisms cultured in the early weeks, with Pseudomonas and Streptococcus species predominating later.

Pelvic rhabdomyosarcoma in children

From 1961 to 1986, 29 patients with pelvic rhabdomyosarcoma (including pelvic retroperitoneal rhabdomyosarcoma) were admitted to the paediatric surgical service at the Red Cross Children's Hospital, Cape Town. During the period 1961–1970, the mainstay of treatment was radical surgery with or without subsquent chemotheraphy and radiotherapy. Of the 13 patients, only 2 have survived long-term (15%). From 1971 a new management policy of pre-treatment with chemotherapy and in some instances radiotherapy followed by conservative limited surgery was commenced. Twelve of the 16 patients have survived (75%). One patient with stage III prostatic tumour had treatment with only chemotherapy and radiotherapy and is surviving 8 years after diagnosis; another with a vaginal tumour, also stage III, whose parents refused surgery is alive tumour-free 4 years after similar treatment. Chemotherapy has not only significantly improved survival in pelvic rhabdomyosarcoma but has permitted limited surgery and in some instances has resulted in survival without surgical excision.

Cloacal exstrophy: a long-term follow-up with faecal continence

Of 24 infants with cloacal exstrophy admitted to the Red Cross Children's Hospital in Cape Town since 1956, 8 underwent surgery. Six died after the first phase of surgical repair, and only 2 have survived long-term. A 19-year follow-up of these 2 patients is described. One of them has had a remarkable end-result, with complete faecal continence and a palpable sphincter. She had an exstrophied colonic field, in contrast to the caecal plate found in the majority of cases. Although she had vertebral and sacral abnormalities, there was no evidence of myelomeningocoele. An ileal urinary conduit was performed after excision of the exstrophied half of the bladder. She has developed fully as a female and has not required genital re-construction. Our second patient followed the usual pattern in that she has severe neurological deficits due to the myelomeningocoele, a urinary conduit, and a colostomy. She has been reared as a female after removal of intra-abdominal testes. Although she is on replacement oestrogen therapy, she has not has genital reconstruction as yet. Some of the theories on aetiology are mentioned and the operative procedures are outlined.

Concept of a paediatric emergency ward for the cities of a developing country.

Children's hospitals in developing countries carry an enormous patient load. Available facilities must be organized to provide essential care for all. At the Red Cross Children's Hospital in Cape Town this has been achieved by the development of an emergency ward attached to the outpatient department. It is suggested that this concept should be applied in large hospitals of other developing countries.