It has previously been reported that in adult patients with sickle-cell anemia the serum phosphate value and the maximum tubular reabsorption of phosphate per liter of glomerular filtrate (TmP/GFR) were significantly higher than in normal controls. This does not appear to have been studied in children with sickle cell anemia (young sicklers) and this prompted us to assess renal phosphate reabsorption in this group of patients. We looked at serum phosphate level and calculated renal phosphate reabsorption (TP/GFR) in children taking random urine and blood samples at the same time and using the formula TP/GFR = Sp – Up × SCr: UCr, in 30 young sicklers all of whom had normal renal function (mean age 7.3 years) and 40 normal matching controls (mean age 6.5 years). The mean serum phosphate value in young sicklers was significantly lower than in controls (4.3 against 5.3 mg/dl) while the mean value of TP/GFR was 4.09 ± 0.74 mg/dl in young sicklers compared to 4.65 ± 0.75 mg/dl in the control group (p = 0.0026). Therefore, the TP/GFR in young sicklers was also significantly lower (p = 0.0026) than in the control group. This may be explained by the high serum level of parathyroid hormone reported previously in patients with sickle cell anemia which is expected to lower phosphate reabsorption (TmP/GFR and TP/GFR are identical in children). The lower serum phosphate value and TP/GFR in younger sicklers seems to be in contrast with the relatively high serum phosphate value and TP/GFR previously reported in adults with sickle cell anemia.

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Forty six attacks of acute rheumatic fever (ARF) in forty patients were diagnosed between November 1987 and August 1995. Thirty four were initial attacks and 12 were recurrences. Arthritis was the commonest feature, 84.8%. Carditis occurred in 65.2% of the group, 67.6% of the initial attacks and 58.3% of the recurrences; however, the frequency of moderate/severe carditis was higher in recurrences, 25% versus 11.8%. Of those with carditis, mitral regurgitation occurred in 93.3%, aortic regurgitation in 16.7% and significant tricuspid regurgitation in 6.7%. Mitral stenosis was not encountered. No mortality occurred during ARF. Chorea, erythema marginatum and subcutaneous nodules were infrequent. These data are similar with those from a previous study which demonstrated the mild nature of ARF in Saudi Arabia, but showed higher frequency of carditis and suggested the frequency of carditis was not significantly higher during recurrences as compared to frequency of moderate/severe carditis.

BACKGROUND The aim of this study was to assess the frequency of various forms of congenital heart disease (CHD) among affected children in the Southwestern region of Saudi Arabia. PATIENTS AND METHODS During the study period (July 1994 to June 1996), 608 children were referred to Asir Central Hospital as having CHD. All the children were evaluated by a pediatric cardiologist and had electrocardiogram and echocardiogram. RESULTS Of the 608 patients, only 335, comprising 162 males and 173 females, had CHD. The male to female ratio was 0.9:1. The frequency of various forms of CHD was as follows: ventricular septal defect (VSD) 32.5%; patent ductus arteriosus 15.8%; atrial septal defect 10.4%; pulmonary stenosis 10.1%; atrioventricular septal defect and mitral valve prolapse, 3.6% each; aortic coarctation/interruption 3.3%; obstructive aortic valve lesions 2.7%; tetralogy of Fallot 4.5%; common ventricle 2.7%; pulmonary atresia (PA) with VSD 1.8%; D-transposition of the great arteries 1.5%; Ebstein anomaly 1.5%; and isolated PA 1.2%. Other lesions were extremely rare. CONCLUSION The distribution in this study is similar to that reported in previous studies from other parts of the world, except for the lower incidence of obstructive aortic valve lesions.

We reviewed a total of 169 deaths among 969 infants referred from various health institutions in the Asir Region to the neonatal intensive care unit of Asir Central Hospital, Abha, Saudi Arabia, during a four-year period (January 1992 to December 1995). The results showed that the major causes of neonatal mortality in the region were low birth weight (LBW) (45%), congenital malformations (CM) (30.8%), infection (13.6%), and birth asphyxia (7.7%). The majority of the LBW infants died from respiratory insufficiency, sepsis, and necrotizing enterocolitis. The alimentary, central nervous and cardiovascular systems were the parts most commonly involved in CM, with cardiac defect accounting for the highest fatality rate due to lack of facilities for cardiac surgery in the region, and delay in effecting a transfer. Klebsiella, Serratia and E. coli are the predominant organisms causing neonatal sepsis, in contrast with the group B streptococcus dominating in America and the United Kingdom. Generally, factors causing neonatal deaths in the Asir region are similar to those reported in other tertiary hospitals in Saudi Arabia, and tally closely with observations in America and Europe, where the standard of health care is excellent. Nevertheless, the study indicates the need for upgrading of facilities, as well as for more trained personnel for obstetric and neonatal care in Asir region. It may be necessary to consider the need for the establishment of a regional cardiac surgery center in the region.

The authors describe an infant with Down's syndrome who had a prepyloric web complicated by severe gastric outlet obstruction. The delay in diagnosis was responsible for malnutrition and the early postoperative complications of hypothermia and hypoglycemia. Awareness of the association of gastrointestinal abnormalities with Down's syndrome will enable appropriate evaluation for early diagnosis of this surgically correctable malformation.

Case ReportHepatopulmonary Syndrome in a Child Benny Benjamin and FRCP(Ed) Fuad AbbagFRCP(C) Benny Benjamin Search for more papers by this author and Fuad Abbag Search for more papers by this author Published Online:1 Nov 1995https://doi.org/10.5144/0256-4947.1995.643SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutIntroductionThe respiratory system may be involved in a variety of ways in patients with chronic liver disease. Hepatopulmonary syndrome is a term used to designate hypoxemia related to pulmonary vascular changes associated with chronic liver disease, and which is reversible with restoration of liver function, usually following liver transplantation.1 Though the association of cyanosis and clubbing with liver disease was recognized as early as 1884,2 understanding about the nature of the problem has evolved in recent years and there remain many unanswered questions.The paper describes an eight-year-old female with idiopathic chronic liver disease and portal hypertension who developed progressive cyanosis, platypnea and clubbing. Investigations excluded intrinsic cardiopulmonary defect and suggested the presence of intrapulmonary vascular dilatation and shunt. The hypoxemia showed partial response to supplemental oxygen and followed a progressive course leading to severe restriction of activity.In this era of liver transplantation, and with a liver transplantation program established in the Kingdom of Saudi Arabia, we consider it apposite to report this case to enhance awareness of an interesting, life-threatening, but potentially curable problem. The condition has only rarely been recognized in children.3 We believe that this is the first such report from the Middle East.Case ReportAn eight-year-old Yemeni female presented at Asir Central Hospital (ACH), Abha, with increasing cyanosis, dyspnea and platypnea of 12 months’ duration. She had been treated at ACH and in London for bleeding esophageal varices from the age of six years. Evaluation at that time showed portal hypertension secondary to intrahepatic portal obstruction of uncertain etiology and otherwise intact hepatic architecture and normal liver function tests (LFT). As the patient continued to have significant bleeding from the esophageal varices despite several treatments with sclerotherapy, a mesocaval shunt was done at the age of seven years with no further problems from the varices. She was first noted to be mildly hypoxemic at this time.On examination, she was thin and wasted with weight in the 3rd percentile for age and height in the 50th percentile. She had central cyanosis, moderate clubbing of the fingers and toes and spider nevi. The abdomen showed a soft, smooth, nontender liver palpable 1 cm below the right costal margin; the spleen was not palpable and there was no ascites. The cardiovascular system showed a blood pressure of 110/70 mmHg, heart rate of 104/minute, normal heart sounds and a grade I/VI soft pulmonic ejection systolic murmur. The respiratory rate was 30/minute, there was mild subcostal recession and the lung fields were clear.Investigations revealed a hemoglobin of 151 g/L, leukocyte count of 9.8 × 109/L and platelet count of 93 × 109/L. LFT showed a total serum bilirubin of 37.4 μmol/L, conjugated bilirubin of 17 μmol/L, total protein of 660 g/L, albumin of 340 g/L, alanine aminotransferase of 20 mU/mL, aspartate aminotransferase of 22 mU/mL and alkaline phosphatase of 208 mU/mL. The prothrombin time was 15 seconds (control 12 seconds) and partial thromboplastin time was 44 seconds (control 30 seconds). The serology for schistosoma and hepatitis A, B and C and cytomegaloviruses were negative. The arterial blood gas showed a pH of 7.42, pCO2 of 31 mmHg, HCO3 of 20 mmol/L, pO2 of 36 mmHg and O2 saturation of 60% on room air. The calculated alveolar-arterial O2 gradient was 76 mmHg. The pO2 increased to 55 mmHg and the O2 saturation to 86% with the patient breathing 100% O2.The chest radiograph showed prominent interstitial markings, particularly in the mid and lower zones (Figure 1). The computed tomography (CT) chest scan showed dilated pulmonary vessels extending to the periphery, most prominent in the lower lobes (Figure 2). The electrocardiogram showed sinus rhythm, QRS axis of +90 and normal atrial and ventricular complexes. The echocardiogram revealed normal pulmonary venous drainage and pulmonary arterial pressures, and mild left ventricular dilatation with good contractility. There was no evidence of right-to-left shunt across any defect. The contrast echocardiogram revealed that microbubbles entrapped in isotonic saline solution injected through the right basilic vein appeared first in the right heart chambers and, after a further three seconds, were visualized in the left atrium (Figure 3).FIGURE 1 Chest radiograph showing prominent interstitial markings, most marked in the mid and lower zones.Download FigureFIGURE 2 CT scan of the chest showing dilated pulmonary vessels extending to the periphery and most prominent in the lower lobes.Download FigureFIGURE 3 Contrast 2D echocardiogram after intravenous injection of saline showing microbubble contrast in the left atrium (arrow), which appeared three seconds after initial visualization of contrast in the right heart.Download FigureOver the next 12 months of her hospital stay, the patient showed progressive effort intolerance, platypnea and orthodeoxia with increasing oxygen requirements and marked restriction of activity. There was also evidence of worsening LFT during this period. She was therefore referred back to London for further evaluation and management. The father later reported that the child expired during the liver transplantation.DiscussionHypoxemia in chronic liver disease may be related to lung pathology associated with the primary disease process, as in alpha 1 antitrypsin deficiency or secondary to compromised pulmonary function from the complications of cirrhosis such as massive ascites or effusion.4 The term hepatopulmonary syndrome (HPS) was first coined in 1977 to describe a subgroup of patients with chronic liver disease who became hypoxemic in the absence of intrinsic cardiopulmonary disease.5Autopsy studies have shown that pulmonary vascular abnormalities such as dilatation or fistulae form the anatomic basis for the syndrome.6 More recently, in vivo studies using the multiple inert gas elimination technique have helped delineate the complex pathophysiological changes contributing to the hypoxemia in HPS.1,7 These include extreme pulmonary vascular dilatation, blunted hypoxic pulmonary vasoconstriction and increased cardiac output. These result in a combined diffusion-perfusion defect in the setting of essentially normal alveoli. In most patients, the hypoxemia improves with supplemental oxygen by increasing the oxygen diffusion gradient. The few patients who do not improve with oxygen may have true arteriovenous shunts.8The pulmonary vascular abnormalities of HPS may be demonstrated by pulmonary angiography or perfusion scans or, as in our patient, they may be visible on chest radiographs or CT scans.1,9–11 However, these conventional imaging techniques may fail to reveal the pulmonary vascular changes in the early stages and indirect evidence of intrapulmonary shunt should be sought by radionuclide macroaggregated albumin scan or contrast-enhanced 2-D echocardiography.8,12,13 The latter method has the advantage of distinguishing between intracardiac and intrapulmonary right-to-left shunt. The appearance in the left heart chambers of peripherally injected contrast is abnormal; its appearance three to six seconds after its initial visualization in the right heart indicates the presence of pulmonary vascular dilatation or shunt, while its simultaneous appearance in both right and left chambers indicates intracardiac shunt. In the appropriate clinical setting, such demonstration of pulmonary vascular abnormality and exclusion of other cardiopulmonary pathology is essential for establishing the diagnosis of HPS.1,8The common features of increased dyspnea and cyanosis in the upright position (platypnea and orthodeoxia), noted also in our patient, can be explained by augmentation of the shunt because of diversion of blood to the predominantly affected basal segments.1,8,9,11The pulmonary vascular abnormalities of HPS are postulated to be caused by a circulating vasodilator originating in the mesenteric bed and bypassing normal degradation in the liver, or by inhibition or deficiency of a vasoconstrictor.8,14,15 There appears to be good correlation between the severity of the pulmonary and peripheral cutaneous vascular changes (spider nevi),7 but not necessarily with the laboratory parameters of hepatic dysfunction.3,9,11 The development and progression of the syndrome after the portosystemic shunt procedure in our patient may be explained by the increased bypass across the shunt into the general circulation of a gut-related vasodilator.With attempts at medical management of HPS having met with little success,8,11,16 attention has focused on the role of liver transplantation. There is accumulating evidence that the clinical and pathophysiological abnormalities of the syndrome may reverse completely following liver transplantation and may recur with graft failure.3,17,18 These observations demonstrate the functional relationship between the liver and the lung, support the vasodilator bypass theory of origin of the pulmonary vascular changes and justify the use of the descriptive term “hepatopulmonary syndrome”.14,17 Though hypoxia would constitute a significant risk factor for a major procedure such as liver transplantation, it is no longer considered an absolute contraindication.8Our patient presented initially with complications of portal hypertension and later developed progressive hypoxemia and hepatic dysfunction. She fulfilled the criteria proposed by Rodriguez-Roisin et al.1 for the diagnosis of HPS, namely: 1) evidence of chronic liver disease, 2) absence of intrinsic cardiopulmonary disease, 3) pulmonary gas exchange abnormality with hypoxemia and increased alveolar-arterial oxygen gradient and 4) positive contrast-enhanced echocardiogram suggesting pulmonary vascular dilatation or shunt. The partial response to oxygen suggested a combination of perfusion-diffusion defect and true arteriovenous shunt in this patient. The progressive deterioration in her hypoxemic status prompted her referral to a higher center for consideration of liver transplantation.ARTICLE REFERENCES:1. Rodriguez-Roisin R, Agusti AG, Roca J. "The hepatopulmonary syndrome: new name, old complexities" . Thorax. 1992; 47:897-902. Google Scholar2. Fluckiger M. "Vorkommen von trommelschlagelformigen fingerend phalangen ohne chronische Veranderungen an der lungen oder am herzen" . Wien Med Wschnschr. 1884; 34:1457. Google Scholar3. Krowka MJ, Cortese DA. "Severe hypoxemia associated with liver disease: Mayo Clinic experience and the experimental use of almitrine bismesylate" . Mayo Clin Proc. 1987; 62:164-73. Google Scholar4. Krowka MJ, Cortese DA. "Pulmonary aspects of chronic liver disease and liver transplantation" . Mayo Clin Proc. 1985; 60:407-18. Google Scholar5. Kennedy TC, Knudson RJ. "Exercise-aggravated hypoxemia and orthodeoxia in cirrhosis" . Chest. 1977; 72:305-9. Google Scholar6. Berthelot P, Walker JG, Sherlock S, Reid L. "Arterial changes in the lung in cirrhosis of the liver - lung spider nevi" . N Engl J Med. 1966; 274:291-8. Google Scholar7. Rodriguez-Roisin R, Roca J, Agusti AG, Mastai R, Wagner PD, Bosch J. "Gas exchange and pulmonary vascular reactivity in patients with liver cirrhosis" . Am Rev Respir Dis. 1987; 135:1085-92. Google Scholar8. Krowka MJ, Cortese DA. "Hepatopulmonary syndrome: an evolving perspective in the era of liver transplantation" . Hepatol. 1990; 11:138-42. Google Scholar9. Ruth AB, Wolfe J. "Case report. An 11-year-old boy with severe liver disease, cyanosis, and clubbing" . Current Opinion Ped. 1994; 6:280-5. Google Scholar10. Shijo H, Sasaki H, Sakata H, Kusuhara H, Ueki T, Okumura M. "Reversibility of hepatopulmonary syndrome evidenced by serial pulmonary perfusion scan" . Gastroenterol Jpn. 1993; 28:126-31. Google Scholar11. Krowka MJ, Dickson ER, Cortese DA. "Hepatopulmonary syndrome: clinical observations and lack of response to somatostatin analogue" . Chest. 1993; 104:515-21. Google Scholar12. Genovesi MG, Tierney DF, Taplin GV, Eisenberg H. "An intravenous radionuclide method to evaluate hypoxemia caused by abnormal alveolar vessels: limitation of conventional techniques" . Am Rev Respir Dis. 1976; 114:59-65. Google Scholar13. Krowka MJ, Tijik AJ, Dickson ER, Wiesner RH, Cortese DA. "Intrapulmonary vascular dilatations (IPVD) in liver transplant candidates: screening by two-dimensional contrast-enhanced echocardiography" . Chest. 1990; 97:1165-70. Google Scholar14. Eriksson LS. "Hypoxemia in patients with liver cirrhosis" . Acta Gastroenterol Belg. 1990; 53:209-15. Google Scholar15. Yanagisawa M, Kurihara H, Kimura S, et al. "A novel potent vasoconstrictor peptide produced by vascular endothelial cells" . Nature. 1988; 332:411-5. Google Scholar16. Krowka MJ, Cortese DA. "Severe hypoxemia associated with liver disease: Mayo Clinic experience and the experimental use of almitrine bismesylate" . Mayo Clin Proc. 1987; 62:164-73. Google Scholar17. Eriksson LS, Soderman C, Ericzon BG, Eleborg L, Wahren J, Hedenstierna G. "Normalization of ventilation/perfusion relationships after liver transplantation in patients with decompensated cirrhosis: evidence for a hepatopulmonary syndrome" . Hepatol. 1990; 12:1350-7. Google Scholar18. Stoller JK, Moodie D, Schiavone WA, et al. "Reduction of intrapulmonary shunt and resolution of digital clubbing associated with primary biliary cirrhosis after liver transplantation" . Hepatol. 1990; 11:54-8. Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 15, Issue 6November-December 1995 Metrics History Accepted22 February 1995Published online1 November 1995 InformationCopyright © 1995, Annals of Saudi MedicineThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.PDF download

Summary A rare association of ‘absent pulmonary valve’ syndrome, midmuscular ventricular septal defect and aneurysmatic dilation of the ascending aorta without pathology of the aortic valve is described in a 10-month-old infant. The diagnosis was established by echocardiography and angiography.