A severe form of Caudal Regression Syndrome.

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Neonatal screening for sickle cell disease, glucose-6-phosphate dehydrogenase deficiency and a-thalassemia in Qatif and Al Hasa.

BACKGROUND: Screening programs to determine the frequency of sickle cell, glucose-6-phosphate dehydrogenase deficiency and alpha-thalassemia gene are available in Saudi Arabia, although not used frequently. Greater use of these programs will decrease the morbidity and mortality of Saudi children affected by these disorders. PATIENTS AND METHODS: Neonatal hemoglobin electrophoresis and glucose-6-dehydrogenase fluorescent spot tests were performed on newborn babies delivered between December 1992 and December 1993 at the Qatif Central Hospital and at the King Fahad Hospital in Al Hasa. Cord blood samples were collected from babies born in these two hospitals. Babies born in other hospitals had blood collected in their first visit to Qatif primary care centers at the time of vaccination. All specimens were sent to Dammam Central Laboratory. The diagnosis of sickle cell and alpha-thalassemia was based on cellulose acetate electrophoresis and confirmed by agar gel electrophoresis, and glucose-6-phosphate dehydrogenase was confirmed by fluorescent spot test. RESULTS: A total of 12,220 infants, including 11,313 Saudis (92.6%), were screened over a 12-month period. The common phenotypes detected in these infants included AF, AF Bartâs, SFA, SFA Bartâs, FS and FS Bartâs. In the Saudi infants, homozygous sickle cell disease was detected in 2.35% and 1.08% in Qatif and Al Hasa, respectively. The frequencies of sickle cell gene were 0.1545% and 0.1109% in Qatif and Al Hasa. alphathalassemia gene based on an elevated level of Hb Bartâs were 28% and 16.3% in Qatif and Al Hasa. The screening for G6PD deficiency revealed a high prevalence of 30.6% and 14.7% in Qatif and Al Hasa. In the non-Saudi infants, the frequencies were low. CONCLUSION: The outcome of this study indicates that the Saudi populations in Qatif and Al Hasa are at risk for hemoglobinopathies and G6PD. Neonatal screening programs are essential and cost effective and should be maintained as a routine practice.

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

More than 600 different CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations have been identified so far that are considered to cause the fatal genetic disorder cystic fibrosis (CF). We have investigated 15 Arab children from 12 families, who were diagnosed as having CF, for mutations in the coding region and in the flanking intron sequences of the CFTR gene. Six different CFTR mutations were identified including two novel mutations, 1548delG in exon 10 and 406-2A-->G in intron 3. Prominent mutations were the splice mutation 3120 + 1G-->A (intron 16) followed by N1303K (exon 21) and 1548delG (exon 10). Most CF children were homozygotes who presented with a severe form of the disease including failure to thrive, recurrent chest infections, particularly with Pseudomonas aeruginosa, and frequent hospital admissions. Identification of the CFTR mutations facilitates molecular investigation of the disease and better understanding of its pathophysiology in Arab children, among whom CF is probably an underdiagnosed disease.

Focal nodular hyperplasia of the liver with the lumbo-costovertebral syndrome.

Congenital lumbar hernia is uncommon in children; only 42 cases have been reported. A newborn girl with congenital superior lumbar hernia associated with lumbo-costovertebral syndrome is described. Associated features include focal nodular hyperplasia of the liver, absent right kidney and hydrocephalus.

Splenectomy and acute splenic sequestration crises in sickle cell disease.

Acute splenic sequestration crises (ASSC) is one of the complications of sickle cell disease (SCD) that can be life-threatening due to loss of blood volume. Over a 5-year period, we have treated 19 patients ranging in age from 4 to 32 years with ASSC. There were 14 males and 5 females; 17 had homozygous SCD and the other 2 had sickle thalassemia. Two patients presented with severe anemia and acute circulatory collapse; 1 of them developed residual weakness of his limbs and decreased visual acuity. Nine patients underwent splenectomy after major episodes of sequestration while the remaining 10 had recurrent minor episodes of sequestration. The clinical features and the role of splenectomy are discussed.

Cholelithiasis in children with sickle cell disease.

Abdominal ultrasonography was performed on 305 children with sickle cell disease (SCD) (285 SS and 20 S-beta-thalassemia) to establish the prevalence of cholelithiasis in Saudi children with SCD. Their ages ranged from 1 to 18 years (mean 10.45 years). Gallstones were demonstrated in 60 children, giving a prevalence of 19.7%. An additional 50 patients (16.4%) had only biliary sludge. The youngest patient with gallstones was 3 years old. There was a correlation between the presence of gallstones and increasing age. Patients with gallstones were also found to have higher serum bilirubin levels, but their hemoglobin, hematocrit, reticulocyte count, hemoglobin S, and hemoglobin F levels were not significantly different from those of patients without gallstones.

Recurrent adrenocortical carcinoma in a 4 year old girl.

Adrenocortical tumours are rare in the paediatric age group. This is a report of a 4 year old girl with recurrent adrenocortical carcinoma emphasizing the role of surgery as the definitive form of therapy even in recurrent cases.

Cholelithiasis in Saudi patients with sickle cell anemia.

Gallbladder ultrasonography was performed on 150 patients with sickle cell disease (144 SS and 6 S-B Thal) to establish the prevalence of choletithiasis in Saudi sicklers. There were 81 males and 69 females whose ages ranged from 1(1/2) to 75 years (mean 16.0). Gallstones were demonstrated in 29 patients, giving an overall prevalence of 19.3%. An additional 34 patients (22.7%) had only biliary sludge. The youngest patient with gallstones was seven-years-old. Of those with positive gallstones, radiopaque gallstones were found in 24%. There was a correlation between the presence of gallstones and increasing age. Patients with gallstones also had higher serum bilirubin levels, but their hemoglobin, hematocrit, reticulocyte count, hemoglobin S and hemoglobin F levels were not significantly different from those patients without gallstones.

Incidence of major infection in sickle cell pediatric patients at Qatif Central Hospital.

During the two-year period, 20 Jumada I 1408 (January 9, 1989) to 20 Jumada I 1410 (December 18, 1989), a total of 450 pediatric patients with sickle-cell anemia were admitted to the pediatric ward of Qatif Central Hospital. Thirty-nine patients had a major infection (septicemia, meningitis, or osteomyelitis), with an incidence of 8.6%. During the same period, 3700 non-sickle pediatric patients were admitted and 38 of them had a major infection, with an incidence of 1% (P<0.001). Three patients died in the sickle cell groups, for a case fatality rate of 7.6%, while only one patient in the control group died, for a case fatality rate of 2.6% (P<0.002). Salmonella species were responsible for 12 cases of septicemia and three episodes of osteomyelitis, and Streptococcus pneumoniae was the source in eight cases of septicemia and one case of meningitis in sicklers. Meningitis was caused by different organisms, such as Streptococcus pneumoniae, Salmonella, and Meningococcus. Antibiotics that cover both Salmonella and Streptococcus pneumoniae must be considered in all children with sickle cell anemia who have a febrile illness.

Kenny syndrome: description of additional abnormalities and molecular studies.

An 18-month-old girl presented with clinical manifestations of Kenny syndrome including growth retardation, ophthalmologic abnormalities, a persistent open anterior fontanel, dysmorphic facies, anemia, radiologic skeletal abnormalities, and severe hypoparathyroidism. Analysis of restriction patterns of DNA with human parathyroid hormone (PTH) DNA probes revealed no gross abnormalities of the PTH gene that could contribute to the hypoparathyroidism. In addition to the previously described characteristics of the syndrome, hypoplastic nails, persistent neutropenia, abnormal T cell function and neonatal liver disease all occurred and may be additional manifestations of Kenny syndrome, requiring diagnostic or therapeutic consideration.

Transient growth deceleration in normal short children. A potential source of bias in growth studies.

We have examined the records of 21 short children evaluated for growth hormone deficiency and found not to be deficient. Their growth velocity was evaluated for at least 6 months, both before and after testing. Without any specific therapeutic intervention, growth velocity was significantly higher after testing, as compared with before. We attribute this apparent "therapeutic" effect of testing to a selection bias, due to the fact that, in normal clinical practice, children are selected for testing immediately following a period of slow growth, and that decelerations of growth are very often transient. Studies of growth-stimulating treatments using children as their own controls should, for this reason, be interpreted with caution.