[Surgical treatment of achalasia - endoscopic or laparoscopic? : Proposal for a tailored approach]. / Operative Therapie bei Achalasie ­ endoskopisch oder laparoskopisch? : Vorschlag für die maßgeschneiderte Verfahrenswahl.

Primary idiopathic achalasia is the most common form of the rare esophageal motility disorders. A curative therapy which restores the normal motility does not exist; however, the therapeutic principle of cardiomyotomy according to Ernst Heller leads to excellent symptom control in the majority of cases. The established standard approach is Heller myotomy through the laparoscopic route (LHM), combined with Dor anterior fundoplication for reflux prophylaxis/therapy. At least four meta-analyses of randomized controlled trials (RCTs) have demonstrated superiority of LHM over pneumatic dilation (PD); therefore, LHM should be used as first line therapy (without prior PD) in all operable patients. Peroral endoscopic myotomy (POEM) is a new alternative approach, which enables Heller myotomy to be performed though the endoscopic submucosal route. The POEM procedure has a low complication rate and also leads to good control of dysphagia but reflux rates can possibly be slightly higher (20-30%). Long-term results of POEM are still scarce and the results of the prospective randomized multicenter trial POEM vs. LHM are not yet available; however, POEM seems to be the preferred treatment option for certain indications. Within the framework of the tailored approach for achalasia management of POEM vs. LHM established in Würzburg, we recommend long-segment POEM for patients with type III achalasia (spasmodic) and other hypercontractile motility disorders and potentially type II achalasia (panesophageal compression) with chest pain as the lead symptom, whereas LHM can also be selected for type I. For sigmoid achalasia, especially with siphon-like transformation of the esophagogastric junction, simultaneous hiatal hernia and epiphrenic diverticula, LHM is still the preferred approach. The choice of the procedure for revisional surgery in case of recurrent dysphagia depends on the suspected mechanism (morphological vs. functional/neuromotor).

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.

Muscular dystrophy associated with beta-Dystroglycan deficiency.

beta-Dystroglycan, a 43-kd transmembrane dystrophin-associated glycoprotein, plays an important role in linking dystrophin to the laminin-binding alpha-dystroglycan. alpha-/beta-Dystroglycan is encoded by a single gene on chromosome 3p21 and ubiquitously expressed in muscle and nonmuscle tissues. No known human diseases have been mapped to this locus. Here, we describe the selective deficiency of beta-dystroglycan in a 4-year-old Saudi boy with muscular dystrophy. The patient had a borderline elevation of serum creatine kinase level and early-onset proximal symmetrical muscle weakness and wasting without calf hypertrophy. The milder phenotype may suggest a secondary deficiency of beta-dystroglycan; however, the unique immunofluorescence labeling suggests that the patient may present a novel form of muscular dystrophy.

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.

Horizontal versus vertical transmission of human immunodeficiency virus type 1 (HIV-1). Experience from southwestern Saudi Arabia.

Twenty-five confirmed cases of human immunodeficiency virus type 1 (HIV-1) infection due to blood transfusion have been documented at King Fahad Hospital (KFH) in Al-Baha, southwestern Saudi Arabia since 1986, but complete follow-up was only possible on 19 of these cases and their contacts. Seventeen cases were diagnosed as having acquired immunodeficiency syndrome (AIDS) or AIDS-related complex (ARC) after admission to the hospital due to the deterioration of their health status. Two cases were found to be anti-HIV-1 positive on routine screening for blood donation. This cluster of HIV-1 infected patients through blood transfusion allowed us to study the efficiency of sexual transmission of HIV-1 infection between spouses, the rate of perinatal transmission of HIV-1 infection, and to see whether intrafamilial transmission is a possible route of spread of the virus. Firstly, the present results confirm our earlier observation that transmission of HIV-1 infection was more efficient from the infected husband to his wife(s) in contrast to the inefficient transmission of the infection from the infected wife to her husband. Secondly, by the age of 16 months, all nine newborns to HIV-1 infected mothers became HIV-1 infected. This highlights the importance of medical advice to those mothers regarding conception and/or breast-feeding, particularly as breast-feeding up to 2 years is not an uncommon practice among Saudi women. Finally, none of the household contacts of the 19 cases was infected until now, indicating that intrafamilial spread of HIV-1 did not occur among the population studied.

PIP: In June 1986, screening for anti-HIV using enzyme immunoassay (EIA) started on all donated blood at King Fahad Hospital (KFH) in Al-Baha, southwestern Saudi Arabia. In December 1988, an HIV clinic was established at KFH and 25 adult cases were identified as HIV-1 positive who had a history of blood transfusion between 1982 and 1986. Follow-up was only possible in 19 of these cases and their contacts. When a person was found to be anti-HIV-1 positive, all family members were called for HIV testing. Contacts of HIV-1 positive patients were followed-up on a monthly basis, and those who were anti-HIV-1 positive were started on zidovudine therapy. Serum testing for anti-HIV and for HIV-Ag was done by enzyme-linked immunosorbent assays (ELISA) and confirmed by Western blot. The majority of cases were diagnosed as having AIDS (10/19) or ARC (5/19) after admission to the hospital. All AIDS cases died within 2 months after diagnosis, while those with ARC died within 1-2 years after the diagnosis. Two of the cases (cases 1 and 2) were found anti-HIV-1 positive on routine screening for blood donation, and 3 cases (cases 11, 17 and 18) were detected when their respective children were admitted and diagnosed as having AIDS. In case 6, as in case 7, the husband infected both wives. All children born before the mother had the blood transfusion and hence the infection were anti-HIV-1 negative and were still negative after 3-7 years of follow-up. In contrast, all 9 children born to HIV-1-positive mothers became infected. Although some of the infants had no evidence of infection up to 9 months of age or more, all became anti-HIV-1 positive and HIV-Ag positive by 16 months of age. These children had no blood transfusion during the 16 months period.

4-Hydroxybutyric aciduria.

The clinical findings in six patients from three families with 4-hydroxybutyric aciduria are described. The onset of disease was in early infancy in all cases. All infants presented with severe global delay and severe hypotonia, and all patients had seizure disorder. Eye findings included optic atrophy in two patients, and retinitis pigmentosa in one. Three patients had choreoathetosis, two had myoclonus and one had severe dystonia. The urine 4-hydroxybutyric acid was 300-1000 times that of normal, and other organic acids related to its further metabolism or to its inhibitory effect on beta-oxidation were also increased. The administration of vigabatrine rapidly reduced the excretion of 4-hydroxybutyric acid promptly, and in the long-term its excretion could be kept at 80-200 times that of normal. However, the clinical course of the disease improved in only two, remained the same in two, and worsened in the remaining two patients.

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.

The antenatal diagnosis of cephalothoracopagus Janiceps conjoined twins.

A case of cephalothoracopagus conjoined twins (Janiceps twins) is presented. The abnormality was detected antenatally by the use of ultrasonography and confirmed postnatally, clinically and by computed tomography (CT scan).

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.

Haematological manifestations of childhood brucellosis.

Very few data on the frequency and diversity of haematological abnormalities occurring in brucellosis in children have been reported. In the present study 110 children (56 boys and 54 girls; age range, 2 months to 14 years) with proven brucellosis were investigated to determine the haematological changes during the active course of this infection. Anaemia was detected in 48 (44%) patients, of whom four had evidence of haemolysis. Leukopenia occurred in 33% of the cases, with neutropenia and/or lymphopenia being the most striking features encountered. Thrombocytopenia was found in six (5%) patients and pancytopenia in 15 (14%) patients, of whom one developed disseminated intravascular coagulation. Clinically detectable bleeding occurred in five (4.5%) patients whose platelet counts were significantly low. Hypersplenism, haemophagocytosis and granulomatous lesions of the bone marrow appear to play a fundamental role in producing these abnormalities of the peripheral blood. Brucellosis may be considered in patients whose blood picture reveals haemolytic anaemia, leukopenia, thrombocytopenia or pancytopenia, particularly when the disease is epidemiologically suspected.

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.