Congenital afibrogenaemia in a Kenyan child: case report.

Congenital afibrinogenaemia (CA), is a rare inherited bleeding disorder characterised by complete deficiency of fibrinogen in the plasma. Blood clotting tests are indefinitely prolonged in patients. The mode of inheritance is autosomal recessive. Typically patients present with excessive cord bleeding after birth with intracerebral haemorrhages reported in childhood. Other manifestations include musculoskeletal haemorrhages, mucocutaneous bleeds with poor wound healing reported occasionally. In females, menorrhagia, repeated early pregnancy loss and post-partum haemorrhages are common. We present a four year old female who initially presented with severe cord bleeding after birth, warranting a blood transfusion. Currently she experiences recurrent epistaxis, easy bruising and excessive post-traumatic haemorrhages. All her clotting times are markedly prolonged. Her plasma fibrinogen and fibrinogen antigen are undetectable. An older sibling died from excessive cord haemorrhage after birth. Bleeds in CA respond very favourably to fibrinogen concentrates, cryoprecipitate and fresh plasma. To date, 242 cases of CA have been reported worldwide, none of them in Kenya. Our aim in reporting this case is to document the disorder, and also to raise the index of suspicion of the condition.

Clinico-pathologic characteristics and treatment outcomes in children with neuroblastoma at the Kenyatta National Hospital, Nairobi.

OBJECTIVE: To determine clinical-pathologic characteristics, treatment modalities and treatment outcomes of children diagnosed with neuroblastoma. DESIGN: Cross-sectional descriptive study based on secondary data from patient records. SETTING: Records department of Kenyatta National Hospital (KNH), a tertiary teaching and referral hospital based in Nairobi. SUBJECTS: Children aged 15 years and below, admitted with the diagnosis of neuroblastoma, between January 1997 and December 2005. MAIN OUTCOME MEASURES: Presenting clinical features, diagnostic modalities including laboratory and imaging data, treatment modalities, response to treatment and patient survival. RESULTS: Twenty six patients were eligible for the study; 13 males and 13 females giving a M:F ratio of 1:1. The age range was 5 days to 12 years, with a median age of five years. Abdominal swelling (53.8%), inability to walk due to bone pains, (50%), and cranial or periorbital swelling, (38.5%) were the commonest presenting features. Diagnosis of neuroblastoma was based on tissue biopsy in 50% (95% CI 40.6-79.8%) of the patients, and on fine needle aspiration cytology of mass or bone marrow in the rest. Bone marrow involvement was present in 16, (75%). Anaemia, was common with 72.7% patients having a haemoglobin (HB) <8 g/dl at presentation. Immunohistochemistry and cytological grading were done in two, (8%), patients. Urinary vanilly 1 mandelic acid (VMA), screening was positive in 50% (95% CI 29.9%-70.1%). The most frequently involved organs were abdomen (88.9%), and skeleton, (84.6%). Majority of patients, (92.3%), presented with advanced stage IV disease. Three patients died before commencement of treatment. All treated patients (100%), received cytotoxic therapy. Only two patients (8.6%) had surgery as part of treatment while one, (4.3%) was treated with radiotherapy. The initial treatment regimen was similar for all the patients. Although most patients had a complete initial response to treatment, early relapse, treatment failure, death or loss to follow up of patients with progressive disease were common. Overall survival (OS) at one year and two years were 19.2% (95% CI 6.6-39.4%) and 7.7% (95% CI 0.9%-25.1%) respectively. Only one patient was alive, (also free of disease), five years after diagnosis. CONCLUSION: Although other clinical-pathologic findings of the patients were similar to those reported elsewhere, virtually all study patients presented with advanced stage IV disease, which would be associated with poor prognosis irrespective of quality of care. Priority must therefore be on ensuring early diagnosis and referral of patients with neuroblastoma before any other interventions can be expected to positively impact on outcome. The limited role of surgery and radiotherapy observed over the study period may be attributed to late presentation of the patients. Pathologic evaluation of important information could have been availed at minimal extra cost. To be at par with current internationally accepted treatment approaches that have been associated with improved survival, there is need to base choice of regimens for individual patients on clinical and readily accessible pathologic markers.

Prevalence of cytomegalovirus antibodies in blood donors at the National Blood Transfusion Centre, Nairobi.

BACKGROUND: Cytomegalovirus (CMV) infection in susceptible patients is associated with serious morbidity and a high mortality. Transmission of cytomegalovirus infection through blood transfusion is markedly reduced by transfusion of CMV seronegative blood products, or by transfusion of leucodepleted blood products. OBJECTIVE: To determine the prevalence CMV IgG and IgM antibodies among blood donors at the National Blood Transfusion Services (NBTS), Nairobi. DESIGN: Cross-sectional descriptive study. SETTING: Four hundred participants were recruited from blood donors at the NBTS and testing was done at the Kenyatta National Hospital (KNH) immunology laboratories and the NBTC. MAIN OUTCOME MEASURES: Social demographic data and the CMV serologic status for the participants was determined and documented as being positive or negative for immunoglobulin G (IgG) and immunoglobulin M (IgM). The age, gender, marital status, education level and geographical area of residence of the participants were documented. Corresponding results of HIV, hepatitis B antigen, hepatitis C antibody from the patients were obtained from the NBTS. RESULTS: Majority of the blood donors recruited were male at 57.9%. Most blood donors were aged 16-20 years (42.5%) and only 17.2% were above 30 years of age. Unmarried blood donors, those with secondary school education and an income between Kshs 5000 (US $67) and KShs 50,000 (US$ 667) monthly were the majority at 78.5%, 54.8% and 66.1% respectively. Sexually active blood donors constituted 60.5% of the donors recruited. Positivity for transfusion transmissible infections (TTI) tested was 1.3%, 0.3%, 2.3% and 1.0% for human immunodeficiency virus (HIV), syphilis, hepatitis B and hepatitis C respectively. Anti- CMV IgG and IgM positivity was 97.0%, (95% CI 96.45-97.53%), and 3.6% (95% CI 1.7-5.2%), respectively. There was no statistical difference between different ages, marital status, salary, individual's sexuality in the prevalence of CMV antibodies. However females had a higher prevalence of CMV antibodies. CONCLUSION: There is a very high prevalence of cytomegalovirus antibodies among blood donors at the NBTS, with virtually all blood donors having been exposed to the virus. Since the CMV remains latent within leucocytes after infection inspite of the prescence of antibodies in seropositive individuals, leucoreduction of blood products is recommended before transfusion to seronegative susceptible patients. In Kenya, susceptible groups of patients include very low birthweight babies, patients with acquired immune deficiency syndrome (AIDS) due to human immunodeficiency virus infections (HIV) patients, patients on myelosuppressive cancer therapy and recipients of kidney transplants. Further studies are recomended to determine the prevalence of CMV antibodies in these patients in order to establish the magnitude of the demand for CMV safe blood.

Radiation synovectomy: treatment option for haemophilia patients with chronic haemarthrosis: a review.

BACKGROUND: Ablation of the synovium with radiopharmaceuticals, referred to as radiation synovectomy, (RS), has emerged as a simple affordable and safe procedure that is highly effective in preventing chronic disabling end stage arthritis in haemophilia patients. OBJECTIVE: To provide a review of the principles and role of radiation synovectomy, (RS), in the management of haemophiliac patients with chronic haemarthrosis, and to consider the possibility of this treatment option in Kenyan patients with haemophilia. DATA SOURCES: A literature search through the internet using Boolean commands, PubMed interface to MEDLINE, Evidence, the Cochrane library. Papers from reputable haematology and radiation medicine journals, as well as conference presentations of the World Federation of Hemophilia were also included. DATA SELECTION: The searches for papers, abstracts and reviews were limited to English language, haemophilia, haemarthrosis, synovectomy, RS, radiopharmaceuticals for RS and safety of RS. DATA EXTRACTION: All abstracts, and most of the papers were reviewed. Only those abstracts, papers and conference materials from reputable sources were used for this paper. DATA SYNTHESIS: All available papers and abstracts were reviewed for the most up to date information. The indications, requirements, procedure and safety aspects of RS were examined. The merits of alternative forms of synovectomy were considered. In the light of this information, the feasibility of RS as a treatment option for haemophilia patients in Kenya was considered. CONCLUSION: Radiation synovectomy has been carried out on thousands of haemophilia patients with chronic haemathrosis over the last 20 years. Experience accumulated in numerous centres in America, Europe, Asia, North and South Africa indicates that majority of haemophilia patients undergoing RS are spared life long crippling arthritis and deformity. The principle safety concern of the potential for late radiation-related malignancy has been mitigated by appropriate choice of radiopharmaceuticals, and carefully executed procedure. The effectiveness, simplicity and affordability of RS make it particularly suitable for treatment of haemophilia patients in developing countries like Kenya.

Hereditary haemorrhagic telangiectasia in a black adult male: case report.

Hereditary haemorrhagic telangiectasia, (HHT) or Rendu-Osler-Weber disease is a genetic autosomal dominant disorder that is characterised by telangiectasias, (small vascular malformations), in mucocutaneous tissues and arterial venous malformations, (AVMs), in various internal organs. Although HHT is relatively common in whites, the disorder has been reported to be rare in people of black African descent. Majority of HHT patients present with recurrent epistaxis, which in a significant proportion of patients is severe, warranting repeated blood transfusions and iron supplementation. Telangiectasias are most frequent on the tongue, hands, nose, lips and the gastrointestinal tract (GIT). AVMs occur in internal organs, particularly the lungs, brain, and the liver. Early and correct diagnosis of HHT is crucial as patients derive benefit from certain specific treatment modalities. Besides, AVMs which occur in various organs pose serious complications that may lead to death and therefore require early detection. We report a 55 year old black African male with HHT who presented with severe recurrent epistaxis and haematochezia leading to severe anaemia requiring repeated blood transfusions. His son, daughter and a maternal uncle experience milder recurrent epistaxis. The management of this patient and a brief review of the clinical features and management of HHT is presented. Our aim is to raise awareness of the occurrence of HHT in Kenya, in order to enhance early diagnosis and appropriate management.

Chédiak-Higashi syndrome: a case report on an African infant.

An African Kenyan female infant was born with very light skin and ashen grey, scanty hair. At 18 months she presented with a bluish skin pigmentation, hepatosplenomegaly, generalised lymphadenopathy and non-responsive fever. A bone marrow aspirate and peripheral blood examination done revealed characteristic features of the Chédiak-Higashi Syndrome. This is a rare disorder, to our knowledge not previously described in Africans. The case is presented with a brief review of the literature.

The role of needle aspiration cytology in the differential diagnosis of accessible paediatric tumours.

In the period 1985-88, 171 fine needle aspirates from paediatric patients with malignant and non-neoplastic masses were processed and evaluated in the Department of Haematology, Kenyatta National Hospital, Nairobi. Sixty-five needle aspirates had the diagnosis corroborated by histological reports. The rest had relevant clinical and laboratory information to support the cytological diagnosis. The histological diagnosis confirmed cytological diagnosis in 100% for neuroblastoma, 96% for Burkitt's lymphoma, 75% for carcinoma, 68% for sarcoma cases, 53% non-Hodgkin's lymphoma and 50% for Hodgkin's lymphoma. There were no false positives. It is therefore concluded that fine needle aspiration is a useful tool. It may obviate diagnostic surgery, help in planning the course of management of patients and it is diagnostic in Burkitt's lymphoma and neuroblastoma. Fine needle aspiration cytology is an easy, cheap and quick investigation compared to surgical biopsy.