Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this study was to identify the causal mutation in the pellagra-like condition and investigate the mechanism by which niacin confers clinical benefit. Autozygosity mapping and exome sequencing were used to identify the causal mutation, and comet assay on patient fibroblasts before and after niacin treatment to assess its effect on DNA damage. We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex. Importantly, we also show that the previously described dermatological response to niacin is consistent with a dramatic protective effect against ultraviolet-induced DNA damage in patient fibroblasts conferred by niacin treatment. Our findings show the power of exome sequencing in reassigning previously described novel clinical entities, and suggest a mechanism for the dermatological response to niacin in patients with XP/CS complex. This raises interesting possibilities about the potential therapeutic use of niacin in XP.

Outcome of cholelithiasis in Sudanese children with Sickle Cell Anaemia (SCA) after 13 years follow-up.

BACKGROUND: SCA causes chronic haemolysis which is a risk factor for cholelithiasis. OBJECTIVE: To determine the prevalence and outcome of children with SCA complicated with gallstones treated at the sickle cell clinic at the children emergency hospital Khartoum state. METHODS: 261 patients age 4 months to 16 years were studied. AUS examination was carried out. The 30 patients in whom gall stones were detected followed prospectively from June 1996 to September 2009 when a second AUS examination was obtained. RESULTS: Gall stones occurred in 30 patients of whom four were lost to follow up in the first year. The overall prevalence of cholelithiasis was 11.5% and it increased with age. The youngest patient with cholelithiasis was 2 1/2 years old. Haematological variables, bilirubin and sex did not identify a subgroup of patients at higher risk for gallstones. All the patients were asymptomatic at the time of diagnosis. One patient developed symptoms 3years after the diagnosis and he was submitted to surgery. The 25 remaining asymptomatic patients were followed up for 13 years and none of them presented complications related to cholelithiasis during this period. CONCLUSION: The prevalence of cholelithiasis in Sudanese children and adolescents with SCA was significant. The large majority patients remained asymptomatic over a long period.

Rehabilitation of the expanded programme on immunization in Sudan following a poliomyelitis outbreak.

In 1993 a large outbreak of paralytic poliomyelitis occurred in Sudan as a result of an accumulation of large numbers of susceptible children that was accelerated by faltering immunization services. The extent of the outbreak led to the rapid rehabilitation of Sudan's Expanded Programme on Immunization (EPI); the government began financing vaccine purchase, operational aspects of EPI were decentralized, vaccine delivery was changed from a mobile to a fixed-site strategy, a solar cold chain network was installed, inservice training was resuscitated, and social mobilization was enhanced. National immunization days (NIDs) for poliomyelitis eradication were conducted throughout the country, including the southern states during a cease fire in areas of conflict. Measles immunization coverage was increased by offering measles vaccine during the second round of NIDs and subsequently through routine immunization services. Supplemental tetanus toxoid immunization of women of child-bearing age began in three provinces at high risk for neonatal tetanus. From 1994 to 1996 reported immunization coverage increased and the incidence of all EPI target diseases fell. Trends in coverage, disease incidence, financing, and the implementation of WHO-recommended disease-control strategies suggest that more sustainable immunization services have been re-established in Sudan.

PIP: A large outbreak of paralytic poliomyelitis in 1993 in the Sudan prompted rapid rehabilitation of Sudan's Expanded Program on Immunization (EPI). A World Health Organization team visited Sudan in 1993, 1995, and 1996 to review such efforts and their impact. Measures taken to eradicate poliomyelitis, control measles, and eliminate neonatal tetanus included government financing of vaccine purchase, decentralization of EPI operations, a shift from a mobile to a less expensive fixed-site vaccine delivery strategy, installation of a solar cold chain network, resumption of managerial in-service training, and social mobilization. National immunization days were conducted in 1994, 1996, and 1997 throughout the country (during a cease fire in the southern areas). From 1993-96, reported infant immunization coverage increased for all antigens, with a concomitant decrease in the incidence of EPI target diseases. National coverage for the third dose of diphtheria-tetanus-pertussis increased from 51% in 1993 to 79% in 1996, while the proportion of immunizations delivered at fixed sites rose from 35% to 70%. By 1996, 19 of Sudan's 26 states were financing some of the operational costs for EPI.

AIDS and HIV infection in Sudanese children: a clinical and epidemiological study.

HIV surveillance and screening programs were established at Khartoum Teaching Hospital (KTH) following the first identified HIV case diagnosed in a hemophiliac boy in November 1987. As of December 1995, 15 cases of symptomatic HIV infection have been observed in Sudanese children (< or = 16 years) at KTH. An HIV seroprevalence rate of 35.7% was documented in a group of 28 patients (adults and children) with various congenital coagulation defects. The postulated mode of transmission was through contaminated factor concentrate. Screening of 52,000 volunteer male blood donors (March, 1987-1989) showed an HIV-seroprevalence rate of 0.05%. Selected groups, including 1118 children admitted to KTH during the period 1985-1995, were screened for HIV infection. These included aseptic meningitis/encephalitis group (n = 52), high-risk group (n = 523), children with various chronic and malignant diseases (n = 181), and chronic blood recipients (n = 330). A group of 32 displaced homeless children who survived on the streets were also included. Overall, an HIV seroprevalence rate of 1.2% was established. Among the 15 children with symptomatic HIV infection, tuberculosis accounted for the majority of admissions (33.3%) followed by admission for recurrent infections (20.0%). Of the 13 children with nonparental mode of HIV transmission, a vertical mode was documented in 61.5%. The pattern of HIV infection in Greater Khartoum is similar to that in North Africa and the Middle East. However, the geographic influence of high endemicity in neighboring sub-Saharan countries might change it in the future.

Prevalence and risk factors of parasitic infections among under-five Sudanese children: a community based study.

A community based prospective study was conducted among randomly selected 300 children aged less than five years selected from three camps of the police force in Khartoum from 534 households representing a total population of 4962 individuals. The study was planned to determine the prevalence and type of parasitic infestations and the related risk factors in that community. From the 300 children, 298 stools specimens were examined: 116 were positive for a single parasite, while samples from 15 children showed ova and cysts for two types of parasites giving a prevalence rate of 44%. The commonest infestations were Giardiasis (21.1%), Taeniasis (10.4%) and Enterobiasis (7.4%). Non pathogenic E. coli, E. histolytica and Taenia saginata were detected in 2.7%, 0.7% and 1.7% of stools specimen respectively. Children aged between 3 years and above were the most affected group and the infection rate was highest among the illiterate, overcrowded and large sized families. Malnourished children comprised 9.4% of the study group but there was no significant association between undernutrition and the overall prevalence of intestinal infestations, although Giardia lamblia significantly affected the undernourished group.

PIP: Infection with intestinal parasites is a common problem among poor, urban populations in African countries and the Middle East. The authors assessed the prevalence of infection with intestinal parasites among children younger than five years old in an urban community in Khartoum and the factors involved. The community-based prospective study was conducted from March 1990 to February 1991. Soldiers and their families comprise a total of 25,400 individuals residing in ten camps in different areas of Khartoum. Each family has a two-room brick house with kitchen, piped water, and a pit latrine. Most families, however, have no refrigerator, so food is prepared daily and kept in covered containers. Drinking water is kept in large clay pots. 298 stool specimens were examined from 300 randomly selected children under five years old from three police force residential camps in Khartoum representing a total population of 4962 individuals. 116 of the samples were positive for a single parasite, while samples from 15 children showed ova and cysts for two types of parasites, giving a prevalence rate of 44%. The most common infections were giardiasis (21.1%), taeniasis (10.4%), and enterobiasis (7.4%). Nonpathogenic E. coli, E. histolytica, and Taenia saginata were detected in 2.7%, 0.7%, and 1.7% of stool specimens, respectively. Children aged 3 years and older were the most affected group, with the infection rate highest among the illiterate, overcrowded, and large-sized families. Malnourished children comprised 9.4% of the study group, but no significant association was found between undernutrition and the overall prevalence of intestinal infestations, although Giardia lamblia significantly affected the undernourished group.

Nutritional vitamin D deficiency rickets in Sudanese children.

Nutritional vitamin D deficiency rickets was established in 41 Sudanese children aged from 3 months to 7 years by clinical, radiological and therapeutic response supported by biochemical investigations. There were 25 boys and 16 girls, of whom 42% were infants of less than 1 year. Forty-seven per cent of rachitic children were underweight. Six infants had early rickets with no bony swellings but had other clinical features and radiological evidence of rickets. One of them, aged 3 months, presented with hypocalcaemic convulsions. Three children had icthyosis. Serum alkaline phosphatase was raised in 75%, hypophosphataemia occurred in 68% and hypocalcaemia in 54% of patients. Anaemia, mostly hypochromic, was detected in 79%. Possible causes were poor socio-economic background, inadequate dietary intake in both mothers and children, prolonged breastfeeding, prematurity, limited sun exposure and type of residence. Nutritional vitamin D deficiency rickets should be looked for in Sudanese children, especially in preterms and in those living in flats.

Knowledge, attitudes and practices of mothers regarding diarrhoea among children in a Sudanese rural community.

A survey of knowledge, attitudes and practices of mothers in the rural communities of two villages in Sudan regarding diarrhoeal diseases in children was conducted using a focus group research technique. Seven groups of literate mothers (87 mothers) and 13 groups of illiterate mothers (152 mothers) interviewed comprised 85% of mothers with children under 5 years of age in that community. The study showed that mothers can define and describe diarrhoea, however awareness about the aetiology and the importance of germs in its causation was low. The majority of mothers attributed diarrhoea to teething, milk of pregnant women, hot food and salty water. Less than 40% of mothers identify symptoms and signs of "dehydration" and the need for consultation. Only 10% could relate danger signs to severe dehydration. The ORS use rate was very low (2.1-4.3%). Although awareness about ORS was high (100%), only 25% prepared and used it correctly. However, home made fluids including rice water, custard, pap and tabaladi juice were used by 45% of the mothers. 45% of illiterate mothers stop breast feeding and food during diarrhoea compared to 30% of literate mothers. Harmful practices used in caring for children with diarrhoea included: fumigation (50%), cauterization and removal of teeth buds (45% illiterate mothers, 10% literate), withholding of breast feeding and indiscriminate use of drugs and herbs in 30%.

Cutis laxa, growth retardation and hip dislocation in a Sudanese child.

This case report describes the rare variant of autosomal recessive cutis laxa with bone dystrophy in a Sudanese child. The clinical features include cutis laxa, growth and development retardation, facial dysmorphism, hyperextensible joints, dislocation of the hips and a large umbilical hernia.

Features of a large epidemic of group A meningococcal meningitis in Khartoum, Sudan in 1988.

A large epidemic (February-August 1988) of group A sulphonamide resistant, clone III-1 meningococcal meningitis in Khartoum, Sudan is described. A total of 10,099 cases were admitted to treatment centers with 8,397 cases during March and April, corresponding to an annual incidence of 1,679/100,000 inhabitants during this period. The age profile showed a high morbidity in adults (31% of the cases greater than or equal to 20 years). The male dominance was marked especially in the adult cases with a proportion of 3.2:1. The epidemic started during the hot and dry season and declined when the clouds came, humidity rose, temperature fell and a mass vaccination campaign had been implemented together with other epidemic precautions. Vaccination with a combined group A/C polysaccharide vaccine had been given 4 weeks-1 year before hospitalization to 11% of the children, 80% of whom were greater than 18 months of age. The estimated case fatality rate was 6.3%. Since 47% of the cases came from periurban and rural areas, the actual mortality during the epidemic might have been higher when considering those who may have died before reaching any of the treatment centres. Fatal cases had a short history of acute illness and a septic condition. Septicaemia was rare and seen in only 3.7% of the cases, the rest had acute purulent meningitis. Hearing loss/impairment and hemiplegia was diagnosed in 2-3% of the cases. The epidemiology, based on detailed typing/subtyping and restriction enzyme patterns of meningococcal strains, was apparently associated with the Mecca outbreak in August 1987.

Protean manifestations of Wilson's disease: a review of seven Saudi patients.

The clinical picture and laboratory data of five symptomatic and two asymptomatic cases of Wilson's disease in four unrelated Saudi families are reported. More than one member was affected in two families. The oldest and youngest patients were twenty and eight years respectively. The two oldest patients were siblings and presented with neurological disturbance only while the youngest two were unrelated and had predominantly hepatic involvement. A mixture of hepatic cirrhosis and extrapyramidal syndrome was encountered in one patient only and Kayser-Fleischer rings in three. The initial presentation of one patient who subsequently developed cirrhosis closely simulated subacute glomerular nephritis. Although only three patients showed clinical or biochemical evidence of liver disease either initially or in later stages, liver biopsy demonstrated a spectrum of morphological changes in all the seven cases. These findings indicate that a positive family history, Kayser-Fleischer rings and simultaneous hepatic and brain involvement need not be present and that subclinical hepatic involvement may be commoner than is generally realised in Wilson's disease. That seven cases were seen at one centre, which takes a largely unselected patient population, in a four-year period only, suggests that this preventable and treatable disease may be frequent in Saudi Arabia.

Comparison between serum ferritin and computed tomographic densities of liver, spleen, kidney and pancreas in beta-thalassaemia major.

Thirty-seven children with beta-thalassaemia major, eight children with liver cirrhosis, and 20 matched controls were enrolled in this study. Serum ferritin was determined in each subject by radio-immunoassay and liver enzymes by standard methods. The liver, spleen, kidney and pancreas densities were obtained by computed tomography using a Siemens Somatom 2 Scanner with 8-mm slice thickness. The iron content of liver biopsies from 10 patients was graded by staining. The mean serum ferritin of the thalassaemic patients was significantly higher than that of the control group (p = 0.0001). The ferritin of patients with cirrhosis and Wilson's disease was similar to that of the control group. The liver density of the thalassaemic patients was significantly higher than that of the control group (p less than 0.0001) while that of patients with liver cirrhosis and Wilson's disease was similar to the control group. The liver iron content of patients with liver cirrhosis was within the normal range. The spleen and kidney densities of patients with thalassaemia were higher than that of the control group with p values of 0.02 and 0.056, respectively. The density of the pancreas in patients with thalassaemia was not significantly different from that of the control group, (p = 0.52). There was correlation between the liver density and serum ferritin in patients with thalassaemia (r = 0.432, p less than 0.01) while there was no correlation between spleen, pancreas and kidney densities with serum ferritin.

Ultrasound findings in childhood chronic liver parenchymal diseases. An analysis of 41 patients.

Forty-one children with liver disease were studied by ultrasound scan at King Khalid University Hospital, Riyadh, Saudi Arabia. Diagnoses were confirmed either by liver biopsy or specific laboratory tests. Sonograms were studied for liver size, beam penetration, echogenicity, vascularity, and biliary tree abnormalities. Different liver diseases, such as chronic hepatitis, biliary cirrhosis, Wilson's disease, familial idiopathic cirrhosis, type III glycogen storage disease, and secondary haemochromatosis revealed non-specific disease patterns. Four cases of biliary cirrhosis and two cases of glycogen storage disease showed periportal fibrosis. Two cases of familial idiopathic cirrhosis and a case of Wilson's disease revealed thickening of the gall bladder wall, which has not been described in the literature.

Fever in children: diagnosis and management by nurses, medical students, doctors and parents.

Thirty-six nurses, 18 final year medical students, 24 doctors and 36 parents were questioned about their understanding and management of the symptom "fever". There was an obvious tendency to over-diagnose fever by the nursing and medical staff. Antipyretics and sponging were unnecessarily prescribed. Most parents do not have a thermometer and have minimal understanding of fever and its management, and 37% regard fever as a cause of brain damage. Their main sources of information on the subject derive from relatives and friends: only 9% mentioned nurses or doctors as their source of information. Medical students receive little teaching on fever. It is recommended that more time should be devoted to teaching nurses, medical students and junior doctors about fever and they in turn should educate parents on the subject.

Loperamide in acute diarrhoea in childhood: results of a double blind, placebo controlled clinical trial.

Fifty-three young children with acute diarrhoea were included in a hospital-based, double-blind trial of loperamide at two dose levels (0.4 and 0.8 mg/kg/day), given with standard oral rehydration therapy versus placebo plus oral rehydration therapy. The differences in the overall recovery rate were significant (P less than 0.05), the fastest being in the group given 0.8 mg/kg and slowest in the placebo group. Comparison between weights on admission and weights by day 3 showed that more children in the loperamide groups gained weight than in the placebo group (P less than 0.05). No serious side effects of loperamide were observed. The drug was withdrawn in one child because of excessive lethargy and sleep. The results indicate that loperamide in the doses employed is safe and may be a useful adjunct to oral rehydration in certain children.

Meningitis and septicaemia due to a multiply resistant strain of Haemophilus influenzae type b.

A case of meningitis and septicaemia caused by a multiply resistant strain of Haemophilus influenzae in a Saudi infant aged 7 months is reported. Haemophilus influenzae, resistant to ampicillin and chloramphenicol, was isolated from the cerebrospinal fluid, the blood and throat. The minimum inhibitory concentrations (MIC) for ampicillin and chloramphenicol were 64 mg/l and 16 mg/l respectively. After failure of initial therapy with high doses of ampicillin and chloramphenicol, the child made a full and uneventful recovery when treated with cefotaxime. The implications of isolating such a strain on the policy for treating meningitis in our situation are discussed.

Pyogenic liver abscess in children: a report of three patients and review of the literature.

Three children with pyogenic liver abscess seen over a period of 2 years are reported. Their immune status was normal and no underlying causes were detected. The clinical picture was characterized by fever, abdominal pain and tender hepatomegaly. Abscesses were solitary in two children and multiple in the third. One child died within 12 h of admission, the other two recovered completely. Recent literature on pyogenic liver abscess is reviewed.