A clinical study of mentally retarded children with fragile X syndrome in Saudi Arabia.

BACKGROUND: Studies on fragile X syndrome are scarce in Saudi Arabia and other countries of the Arabian Peninsula. The few studies previously done have either been in the form of case reports or those performed on institutionalized mentally retarded patients. The aim of this study was to determine the prevalence of fragile X syndrome among cases with mental retardation who have been referred to the pediatric neurology clinics of King Khalid University Hospital (KKUH) in Riyadh. PATIENTS AND METHODS: Cytogenetic studies were performed in 94 cases who were referred to the pediatric neurology clinics of KKUH because of mental retardation and/or delayed milestones of development, from July 1995 to December 1997. RESULTS: Six male probands (6.4%) showed the classic fragile X chromosome and another six (including a four year-old girl) were detected, following extension of the cytogenetic studies to all 32 first-degree relatives. Affection of more than one sibling was ascertained in four families. One family had four brothers with fragile X syndrome, whereas another formed part of a large kindred with twelve males and five females who were mentally retarded. A clinical, physical and psychological screening checklist was applied to the eleven affected males. Large testicular size, long face and short attention span were the most frequent features, and each was detected in nine patients (82%). Pes planus and history of delayed speech were found in eight patients (73%). CONCLUSION: The study showed that the fragile X syndrome clinical screening checklist that has been applied in other populations might equally be valuable and applicable among the population of Saudi Arabia. However, the presence of pale blue eyes can be excluded and more weight given to positive family history of mental retardation. The study also highlighted the need for further emphasis on the orientation of primary care physicians to the most common clinical diagnostic features of fragile X syndrome.

Pattern of febrile illnesses in children seen at a pediatric ambulatory care setting.

BACKGROUND: Fever is the most common sign of childhood illnesses and febrile children constitute a substantial proportion of the practice of pediatrics and family medicine. OBJECTIVES: To highlight the pattern of febrile illnesses in children attending pediatric ambulatory health-care settings. METHODS: A one-year prospective study was conducted on febrile children who were consecutively seen and managed at two walk-in primary-care clinics in Sulaimania Children's Hospital, Riyadh. Data collection and analysis were structured around the principal study objectives. RESULTS: Among the 16,173 children seen, 4086 (25.3%) were identified as having a fever and evaluated to determine the aetiology of their febrile illness. Boys outnumbered girls and a significant increase in the frequency of febrile illnesses was noted in children 4 to 24 months of age. Upper respiratory tract infections were the commonest cause of fever (75%) and most of these infections were viral rhinopharyngitis. Viral gastroenteritis and pneumonia were prominent diagnoses, each accounting for 5% of febrile illnesses. Notably of low frequency were serious bacterial infections, such as meningitis (0.5%), cellulitis and bone or joint infection (1.8%) and urinary tract infection (0.7%). Only 9% of the febrile children required hospitalization. The ambulatory management of the other febrile children included the prescription of oral antibiotics to 64% of them. CONCLUSION: The proper clinical assessment of these febrile children and the prudent use of laboratory tests and antimicrobials remain the most important management strategies in primary health-care practice.

Rett syndrome in Saudi Arabia: report of six patients.

Six girls (five Saudis and one Sudanese) aged between 3.5 and 12 years demonstrated the classic features of Rett syndrome (RS), including developmental regression with dementia, loss of acquired speech and hand function, and stereotypic hand movements. Myoclonic seizures were observed in two of them. Electroencephalography showed diffuse slowing in three cases generalized epileptic discharges in one, and normal findings in two. Cranial computed tomography revealed normal findings, except in the 12-year-old girl who had mild bilateral frontal lobe atrophy. Except for mildly elevated blood ammonia in three patients, associated with slightly elevated blood lactate in two of them, results of neurometabolic screening tests were normal. There are, as yet, no laboratory markers pathognomonic for RS. Hence, adherence to current diagnostic criteria is essential. To prevent unnecessary and costly investigations, especially in developing countries, wider knowledge of the clinical features of the syndrome is warranted.

Nephrolithiasis in children and adolescents in the South Western region of saudi arabia.

We reviewed 71 cases of children and adolescents with nephrolithiasis over a 9 year period (1982-1991). The mean age was 12.3 years. The male: female ratio was 2.5:1. Twelve patients (16.9%) had bilateral stones. Fifteen patients (21%) had documented urinary tract infection. Escherichia coli was the most common organism growing in the urine cultures. Five patients had metabolic abnormalities and four had genitourinary developmental anomalies. Of the 45 calculi recovered for analysis, 17 (37.8%) were predominantly calcium oxalate, 14 (31.1%) were mixed calcium oxalate and uric acid stones, two (4.4%) were uric acid, two (4.4%) were calcium phosphate, two (4.4%) were cystine and eight (17.8%) were struvite stones. Four patients passed their stones spontaneously. Forty-eight underwent open surgery, with complete stone clearance in 45 patients. Two patients needed nephrectomy, seven had their stones removed by endourological procedures, nine patients were referred to other centers for extra corporeal shock wave lithotripsy, while two did not need any intervention. After the initial hospitalization, 57 patients continued follow up for a mean period of 3.3 years. Of them sixteen patients (28.1%) had recurrence of stone disease. We conclude that renal stone disease in children in our area was not uncommon. The majority were calcium oxalate stones. The clinical manifestations were not specific. Open surgery was needed in the majority of patients. Due to significant recurrence rate, long term follow-up was essential. Follow up by a pediatric nephrologists and/or urologist would be advisable.

The haematological manifestations of visceral leishmaniasis in infancy and childhood.

The haematological manifestations were reviewed in 94 patients (55 males and 39 females) with visceral leishmaniasis. Their ages ranged from 4 months to 12 years (mean per cent 1.8 years). All patients had splenomegaly and were anaemic, while (73 per cent) were neutropenic and (56 per cent) thrombocytopenic. Coagulation abnormalities were encountered in 10 (11 per cent) patients; in four patients this was associated with disseminated intravascular coagulopathy. Bone marrow was hypercellular in (90 per cent), normocellular in (5 per cent), and hypocelluar in (4 per cent). Also variable degrees of erythrophagocytosis and leukophagocytosis were noted with preponderance of histiocytes (46 per cent) and granulomatous formation (25 per cent). Low haemosiderin content in the bone marrow was noted, which together with the finding of high serum ferritin is consistent with anaemia of chronic inflammation. Hypersplenism, haemophagocytosis and granulomatous lesions of the bone marrow, chronic inflammation, and dietary factors appear to be the most important factors in the causation of the haematological changes in visceral leishmaniasis.

Prevalence of intestinal parasites in Saudi children: a community-based study.

A community-based study was undertaken to determine the prevalence and types of intestinal parasites in the pediatric population of Al-Baha region, Saudi Arabia. Stool samples were randomly collected from 19,939 children of whom 4208 (21.1%) were found to harbour intestinal parasites. The most affected age group was 5-9 years and the sex distribution was almost equal in all age groups. Specific prevalence rates were Giardia lamblia 9 per cent, entamoeba histolytica 5 per cent, Hymenolepis nana 2 per cent, and Enterobius vermicularis 2 per cent. The findings of this survey confirm the extremely complex nature of parasitic profile in developing communities, and indicate that relationships exist between cultural and ecological factors, sanitation, and observed pattern of intestinal parasites.

Effect of moderately high altitude on the pattern of lung disease.

In high altitude areas, inspired atmosphere oxygen decrease proportionally to the vertical distance from sea level. Population in these areas some adaptive mechanisms to cope with the relatively hypoxic environment. This study compares populations who live in highland areas (2500 meters above sea level) with those in lowland areas (close to sea level). No differences were observed in the prevalence or mortality rate of respiratory diseases between these two groups. It is concluded that even if adaptive mechanisms can be observed in dwellers of moderately high altitude (<3000 m above sea level), such altitude does not adversely affect the pattern of respiratory disease in these populations. However, partial pressure of oxygen (PaO2) tends to be lower in individuals of high altitude areas, leading to marked oxygen desaturation when such individuals encounter a significant respiratory illness. Physicians are advised to introduce early and effective therapeutic measures before such deterioration occurs.

Childhood bacterial diarrhoea in a regional hospital in Saudi Arabia: clinico-aetiological features.

Over a one-year period, 210 paediatric patients, who were admitted with acute diarrhoea to a regional hospital in the south-western region of Saudi Arabia, were retrospectively reviewed for bacterial enteropathogens. Bacterial pathogens were isolated from 66 (31.4%) patients, with Shigella being the most common (17.1%), followed by Salmonella (10.5%), and enteropathogenic Escherichia coli (EPEC) (3.8%). Major clinical findings associated with bacterial diarrhoea are similar to those reported before. Our results suggest that bacterial pathogens constitute a major cause of acute childhood diarrhoea in hospitalized children in Al-Baha province. Further prospective community based studies are needed to identify the pattern and risk factors of acute childhood diarrhoea in the region.

Management of acute childhood diarrhoea in Saudi Arabia: practices versus the WHO recommendations.

The fluid management of 247 infants and children who were admitted to King Fahad Hospital at Al Baha, Saudi Arabia with acute diarrhoea was reviewed. Half of them were infants and 25% were exclusively breast fed. Although dehydration was mild in 149 (60.3%) patients and 227 (92.7%) were at the most moderately dehydrated, as many as 95.8% were given intravenous (IV) hydration at least initially. This indicates that the WHO recommendation to prescribe oral rehydrating solution (ORS) for the control of diarrhoeal diseases, is still not implemented at some of the regional hospitals in Saudi Arabia, and emphasizes the need for urgent and effective efforts to rectify this situation.

PIP: Acute diarrhea remains a major cause of morbidity and mortality among infants and children in developing countries accounting for up to 20% of admissions to pediatric wards in Saudi Arabia. Oral rehydration therapy is recognized by the WHO as being a safe and effective way to treat this manifestation of infectious disease, but many physicians are reluctant to adopt its practice. 247 of the infants and children admitted to King Fahad Hospital at Al Baha, Saudi Arabia between July 1, 1990 and June 30, 1991, suffered from acute diarrhea. This paper reviews the fluid management of these patients to determine whether and to what extent WHO guidelines are being followed. Half of the patients were infants and 25% were exclusively breastfed. The mean duration of diarrhea at the time of presentation was 3.8 days in a range of 1-8 days. Although only mild dehydration was observed in 149 of the patients and moderate dehydration in 227, 95.8% were nonetheless given intravenous hydration initially for the first 24 hours. These findings suggest that the WHO recommendation to prescribe oral rehydration solution to control diarrheal diseases is not being implemented at some regional hospitals in Saudi Arabia.

Pancytopenia in children with brucellosis: clinical manifestations and bone marrow findings.

Among 276 paediatric cases of brucellosis seen over a 7-year period, 16 patients (5.8%) with pancytopenia were identified. The most frequent presentations were fever, malaise, anorexia, weight loss, arthralgia, and hepatosplenomegaly. Fourteen patients (87.5%) had positive blood and/or bone marrow cultures for Brucella melitensis. Bone marrow aspiration specimens showed hypercellularity in 14 patients and normocellularity in 2. Histiocytes, eosinophils and plasma cells were increased in every marrow aspirate, and haemophagocytosis was observed in 14 patients (87.5%). Non-caseating granulomas were present in the bone marrow biopsy of 11 patients (68.8%). The pancytopenia was transient, and resolved on treatment of the Brucella infection.

Childhood bacterial meningitis in Al-Baha province, Saudi Arabia.

A retrospective review of 71 paediatric patients admitted with bacterial meningitis to the King Fahad Hospital at Al-Baha, Saudi Arabia, during an 8-year period revealed a preponderance of males (67.6%) and young subjects with 88.7% being below 24 months of age. The commonest cerebrospinal fluid pathogens in the series were Haemophilus influenzae type B (HIB), Streptococcus pneumoniae and Group B-beta haemolytic streptococcus, which were responsible for 47.3, 34.5 and 9.1% of cases respectively. Neisseria meningitidis which is a major cause of meningitis in most other reports was uncommon in the present series, and was isolated from only two patients. All the children with Group B-beta haemolytic streptococcal meningitis were below 3 months of age while 96.2% of the children with HIB meningitis were younger than 2 years. Mortality was highest (40%) among the infants with Group B-beta haemolytic streptococcal meningitis. Six (23.1%) of the HIB isolated were resistant to ampicillin and two (7.7%) were resistant to both ampicillin and chloramphenicol. There is a need for greater emphasis on prevention through the use of available vaccines including the newly introduced conjugate vaccines against HIB which are capable of eliciting immune responses in infants as young as 2 months.

Visceral leishmaniasis in infancy and childhood epidemiology and clinicopathological study of 63 cases in Al-Baha Province, Saudi Arabia.

The epidemiology, clinicopathological features, and response to therapy of 63 Saudi patients with visceral leishmaniasis are described. The clinical features in our cases were similar to those described from Asir province, India, and Ethiopia, except for the presence of lymphadenopathy. Fever, hepatosplenomegaly, pancytopenia, and liver dysfunction were common findings. The unusual feature is the seasonal variation in the distribution of the disease. The response to sodium stibogluconate was excellent and the mortality rate was low (less than 1 per cent).

Seropositivity to hepatitis C virus in Saudi haemodialysis patients.

Seropositivity to hepatitis B, C and D viruses was studied in 66 Saudi haemodialysis patients from Al Baha region, south of Saudi Arabia, and was compared to that in 380 healthy Saudis from the same region. The results showed that HCV is endemic in this region (3.6%) and the prevalence of anti-HCV in the haemodialysis patients was 45.5%, which is the highest reported so far in this group of patients. Anti-HCV was related to the amount of blood transfused (greater than 5 units) and the duration of dialysis (greater than 3 years). The region is also hyperendemic for hepatitis B virus (67.4% overall exposure rate in controls compared to 75.7% in haemodialysis patients) and hepatitis D virus (HDV; 11.4% in controls compared to 12.5% in haemodialysis patients). The similarity in profile of HBV markers and HDV between haemodialysis patients and controls indicates that the current strategy regarding HBV is quite effective, in preventing the transmission of HBV and hence HDV but not HCV in haemodialysis patients. A strategy for preventing HCV is recommended.

Intrafamilial transmission of hepatitis C virus (HCV): a major mode of spread in the Saudi Arabia population.

Age-specific prevalence of antibody to hepatitis C virus (anti-HCV) was studied in 831 Saudis (441 males, 390 females; 1-53 years old) from Al Baha region, south-west Saudi Arabia. There was a gradual exposure to HCV early in life with a gradual increase with age, reaching a peak of 5.3% in the 30-40 years age group. The overall prevalence was 3.6% and 3.1% in males and females, respectively, with no statistical difference. Comparison of positivity in family members of seven anti-HCV-positive index cases (15/44) with those of five anti-HCV-negative index cases (2/44) showed a statistically significant association (chi 2 10.5 with Yates' correction). This points to intrafamilial transmission of HCV as a route of spread among the Saudi population.

PIP: Over 90% of transfusion-related hepatitis is caused by non-A, non-B (NANB) hepatitis which has been diagnosed serologically by means of the recently cloned NANB agent designated hepatitis C virus (HCV) using a recombinant based assay. The age-specific prevalence of anti-HCV was studied in healthy Saudis, since silent carriers of NANB hepatitis occur among healthy blood donors as evidenced by a 10% rate of post transfusion hepatitis. In a prospective hospital-based study 381 children aged 1-14 treated for other ailments, 253 blood donors aged 15-53, and 192 pregnant women aged 15-38 were included who had no percutaneous exposure to blood. Also, 44 household members of 7 persons found anti-HCV positive were compared with 44 enzyme-linked immunosorbent assay (ELISA). Age-specific exposure to HCV peaked at 5.3% in the 20-40 age group after early childhood exposure. The prevalence of anti-HCV was 3.6% in males and 3/1% in females. A father and mother were found anti-HCV positive among household members of 7 anti-HCV positive cases. A 4-year old boy and a 7-year old boy in 2 families were found anti-HCV positive among household members of 5 anti-HCV-negative persons. Anti-HCV positivity in family members of HCV+index cases (15/44) was statistically significant compared with HCV index cases (2/44). Routine screening of donated blood is urged because of the high endemicity of HCV in Saudis, and the modes of transmission of HCV also requires further research.

Childhood brucellosis: a study of 102 cases.

One hundred two children, 45 days to 14 years of age, with proven brucellosis were studied to illustrate the epidemiologic, clinical and laboratory findings and to assess the outcome of antimicrobial therapy. The main source of infection was the consumption of raw milk in 80% of the patients. The predominant presenting symptoms and signs were fever, arthralgia, malaise, weight loss, arthritis, hepatosplenomegaly and lymphadenopathy. Brucella melitensis was isolated from 75% of 87 patients. Diverse hematologic and biochemical abnormalities were found. Different durations and combinations of trimethoprim-sulfamethoxazole or tetracycline plus streptomycin or rifampin were used for therapy. Eight-five patients were followed for an average of 14 months. Twelve (85.7%) of 14 patients treated with two-antibiotic combinations for 3 weeks relapsed, as did 5 (8%) of 62 patients treated for at least 6 weeks (P less than 0.001). No relapses occurred in 9 patients treated with trimethoprim-sulfamethoxazole and rifampin for 8 to 12 weeks plus streptomycin for the first 3 weeks. Longer duration and combination of antibiotic therapy seem warranted to improve outcome and to prevent relapses.

Nosocomial bacteraemia in a teaching hospital in Saudi Arabia.

During a period of one year, 117 episodes of nosocomial bacteraemia were documented at King Khalid University Hospital, an incidence of 5 per 1000 admissions. Sixty-two percent were gram-negative organisms with Escherichia coli, Klebsiella spp., Serratia spp. and Pseudomonas spp. being the most frequent. Staphylococcus aureus was the most common gram-positive organism isolated. The source of infection was identified in 75% of patients. Intravenous lines accounted for a high proportion of cases (22%). Most deaths occurred in infants and patients with serious underlying disease.