Screening for glucose-6-phosphate dehydrogenase deficiency can prevent severe neonatal jaundice.

Infants with the severe variant of glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop hyperbilirubinaemia sufficiently severe to cause kernicterus and death, acute haemolysis on exposure to oxidant stress, congenital non-spherocytic haemolytic anaemia and, rarely, increased susceptibility to bacterial infection. In spite of these potential problems, G6PD deficiency is often not included among screening programmes for inherited disorders. In a comprehensive screening and educational programme, we tested around 34,000 infants for G6PD deficiency. Of the total group, 18.4% (24.5% boys and 11.8% girls) were deficient. Forty-two of the 6246 (0.67%) G6PD-deficient infants required exchange transfusion. None of them developed kernicterus. By contrast, of 4755 infants who had not been screened because they were born at home, three developed kernicterus. In addition, four G6PD-deficient infants had developed kernicterus in the 20-month period prior to the screening programme. None of the hyperbilirubinaemic infants had blood group incompatibility or any other identifiable cause of hyperbilirubinaemia. To avoid this disastrous result, we believe that neonatal screening for G6PD deficiency, together with a comprehensive education programme, is advisable in those parts of the world where the severe variant of G6PD deficiency is prevalent.

Cystic fibrosis presenting with recurrent vomiting and metabolic alkalosis.

Between January 1980 and December 1987, ten Saudi Arabian children at Saudi Arabian Oil Co. (Saudi Aramco) health care facilities in the Eastern Province of Saudi Arabia had cystic fibrosis (CF). The incidence of CF in Saudi Arab children less than or equal to 14 years was 1 in 4243. Five of the ten children had hypoelectrolytaemia and metabolic alkalosis on initial presentation. Two of the five had recurrent vomiting, hypoelectrolytaemia and metabolic alkalosis alone and initially no chest symptoms. Early exclusion of CF should be part of the workup in any child, especially in an infant with hypoelectrolytaemia and metabolic alkalosis.

Acute splenic sequestration crises in Saudi children with sickle cell disease.

Sickle cell disease (SCD) is a common disease in the Eastern Province of Saudi Arabia. Twenty per cent of the population have sickle cell trait and 1.75% have SCD. In the first 2 years of life, infection, hand-foot syndrome and acute splenic sequestration crisis (ASSC) are the most common complications of this disease. The classical characteristics of an ASSC, the subject of this paper, are sudden and rapid enlargement of the spleen, secondary to the massive pooling of red blood cells in the splenic sinusoids in a functioning spleen. Less common minor attacks of ASSC have been described recently. An ASSC is one of the most common causes of death in infants with SCD. The underlying cause and the precipitants of attacks of ASSC remain unknown. Seventeen children with ASSC were seen. Clinically, they had minor ASSC; three developed hypersplenism and four underwent splenectomy for recurrent attacks of ASSC. None of these 17 children had the classical ASSC described in black children where peripheral circulatory shock is encountered.

Neonatal diabetes mellitus in first cousins.

The cases of two first cousins with neonatal diabetes mellitus are presented in this report. In one child the condition was transient, whereas the other has permanent diabetes mellitus. It seems unlikely that the difference in outcome was related to the degree of diabetic control early in the course of the disorder. The possibility of genetic influence in the etiology of neonatal diabetes is stressed. Chlorpropamide was not useful in curing neonatal diabetes mellitus in one case.

Persistent neonatal hyperinsulinism.

Over a 3-year period, the diagnosis of persistent neonatal hyperinsulinism (PNH) was made in seven infants, from an unselected cohort of 18,726 births, all of Saudi Arabian origin. Thus the incidence of PNH was one in 2,675 births. The high incidence, associated consanguinity, and occurrence in siblings suggest that PNH may be inherited as an autosomal recessive disorder.

Hypophosphatemic rickets/osteomalacia in linear sebaceous nevus syndrome: a variant of tumor-induced osteomalacia.

A severe form of vitamin D-resistant rickets is associated with the linear sebaceous nevus syndrome. We investigated the pathophysiology underlying defective bone mineralization in two individuals and examined the effects of 1,25-dihydroxyvitamin D (1,25(OH)2D, calcitriol) therapy on the clinical and biochemical abnormalities. Both patients had fasting hypophosphatemia, markedly diminished TmP/GFR, and elevated alkaline phosphase activity in the presence of normocalcemia. Before treatment with calcitriol, serum 1,25(OH)2D concentrations were reduced but serum 25-hydroxyvitamin D (25(OH)D) concentrations were normal. Administration of calcitriol increased serum 1,25(OH)2D concentrations and led to an increase in TmP/GFR and serum phosphorus levels and to a decrease in alkaline phosphatase activity. However, the renal tubular maximum for reabsorption of inorganic phosphate, normalized according to glomerular filtration rate, and serum phosphorus levels remained abnormally low even in the patient who also received phosphate supplementation. Bone histomorphologic studies in the adult patient showed extreme osteomalacia, which partially improved with calcitriol. These data demonstrate that the putative skin lesion-derived factor results in both a renal tubular defect in phosphate reabsorption and in 1,25-(OH)2 D deficiency. The vitamin D-resistant rickets of linear sebaceous nevus syndrome is a variant of tumor-induced osteomalacia.

Hypoparathyroidism in Arab children.

Four children with hypoparathyroidism are reported. We believe that this is the first report of this condition from Kuwait or Saudi Arabia. Treatment and course of disease are discussed. Two children have hypoparathyroidism as part of DiGeorge Syndrome.

Angioimmunoblastic lymphadenopathy (AIBL): a case report from Saudi Arabia.

Angio immunoblastic lymphadenopathy (AIBL) is a recently described disease. It occurs most commonly in elderly patients with an average age of about 60 years. In children, few cases have been reported so far in the English literature (three occurred after thymic transplant and one case after infectious mononucleosis). AIBL has characteristics manifested by clinical, pathological and laboratory findings. Steroids, alone or with chemotherapy, are used for treatment with variable results. Herein, we report one child with AIBL who was treated with prednisone initially and then relapsed. Chemotherapy (cyclophosphamide, vincristine and prednisone) was added and she has been in remission for more than 3 years. The purpose of this report is to add AIBL to the differential diagnosis of acute generalized lymphadenopathy in children.

Adrenal insufficiency possibly due to lipoid adrenal hyperplasia: a case report.

An infant who presented with adrenal insufficiency possibly due to lipoid adrenal hyperplasia at the age of 66 days is described. This is the first time that this very rare disorder is reported from Saudi Arabia. Adrenocorticotrophic hormone (ACTH) stimulation test is useful in the ante-mortem diagnosis of this condition.

Salicylate-induced hepatitis in rheumatic fever.

In a 4 1/2-year retrospective study of hospitalized patients with rheumatic fever treated with salicylates, we determined that five of 34 children manifested salicylate-induced hepatitis. The average serum salicylate level in those patients with hepatotoxicity was 30.9 mg/dL, while the average serum salicylate level in the rest of the patients was 19.7 mg/dL. An awareness of this potential complication is important when treating children with salicylates at doses previously considered to be nontoxic. Serum salicylate levels should be maintained at approximately 15 to 25 mg/dL during such therapy.

Traction-induced hypertension in children.

Fifty-seven patients under treatment by traction were monitored for elevation of blood pressure. Hypertension developed in 39 of these patients (68%). Three patients required antihypertensive therapy to control the elevated blood pressure. The blood pressure returned to normal after discontinuation of traction. Sixty patients hospitalized for nonorthopedic problems who were not being treated by traction constituted the control group; seven of these patients (12%) had elevated blood pressure. Recognition of traction-induced hypertension is important to avoid not only its consequences but unnecessary diagnostic procedures as well.

Salicylate hepato toxicity in rheumatic fever.

Two children with rheumatic fever developed anicteric hepatitis while on high-dose aspirin therapy. The striking chemical abnormality was an elevation of serum glutamic oxalacetic transaminase (SGOT) [aspartate aminotransferase (AST)]. A percutaneous liver biopsy obtained from one of the patients showed ultrastructural abnormalities consistent with a toxic hepatitis and hepatic congestion. An awareness of this potential complication is important when treating children with aspirin at doses previously considered to be non-toxic.