Autosomal recessive lamellar ichthyosis and acute lymphoblastic leukemia.

Autosomal recessive lamellar ichthyosis (ARLI) is a congenital disorder of keratinization, the gene of which has been mapped to chromosome 14q11. This band is also the breakpoint in various chromosomal rearrangements in T cell acute lymphoblastic leukemia (ALL). We describe a patient with ARLI who developed ALL at the age of 2.5 years. High resolution banding showed no abnormality or rearrangement involving chromosome 14. To our knowledge, this is the first description of the occurrence of the two conditions in one patient.

Demographic characteristics and risk factors of first febrile seizures: a Jordanian experience.

A prospective study of 203 children admitted with a first febrile seizure was carried out over 18 months. Aseptic meningitis was diagnosed in nine children (4%). The mean age of the children was 19.9 months and the peak age incidence (88%) was between 6 months and 3 years. Complex seizures were seen in 16 cases (8%). There was a history of perinatal asphyxia in 16 patients (8%), positive family history of epilepsy in 3%, of first degree relatives and a history of febrile seizures in siblings in 13%. Upper respiratory tract infection was the commonest triggering factor, diagnosed in 53% of cases. The third child was the most commonly affected (22%) in the family. There was a lower incidence of both complex febrile seizures and history of seizures in siblings compared to other studies. Lumbar puncture should be considered for all children below the age of 2 years, presenting with a first febrile seizure.

The incidence of childhood cancer in Jordan: a population-based study.

BACKGROUND: Marked variations in the incidence of particular types of childhood cancer exist between countries. We report on the geographic variation in the occurrence of childhood cancer in Jordan. MATERIAL AND METHODS: Cases were identified from the Jordan National Cancer Registry. We collected data on age, sex, type, primary site, and stage of cancer. Tumor topography and morphology were coded according to the accepted international standard. For all cases registered, 95.2% were histologically diagnosed. Incidence rates were calculated as annual rates per million population. The denominator is the 1997 estimate of the childhood population at ages 0-4, 5-9, and 10-14 years. RESULTS: There were 646 registered primary malignant neoplasms during the three-year study period (1996-1998). The annual incidence rate for all types of cancer combined was 113 per million children. The rate among children less than 5 years of age was 134.5 per million, for 5-9 years it was 97.8 per million, and for 10-14 years it was 104.1 per million. Overall, the age-standardized annual incidence rate was 113.8 per million. The most common diagnostic group was leukemia, accounting for more than a third of all cases, followed by brain tumors and lymphoma. The highest rate was in the capital, Amman. CONCLUSION: The pattern of childhood cancer in Jordan seems to be generally similar to other countries in the region, particularly the observed excess of lymphoma. Geographical variations in childhood cancer exist in Jordan and could be partly explained on the basis of lower detection or reporting, or both, in certain locations.

Inhibition of K+ transport in human sickle cell erythrocytes by okadaic acid and sodium fluoride.

1. The effect of okadaic acid and sodium fluoride on swelling- and N-ethylmaleimide (NEM)-stimulated KCl cotransport was examined in blood cells from homozygote sickle cell anaemia patients. 2. Blood was drawn into heparin or EDTA by vein puncture from sickle cell patients previously diagnosed in the haematology clinics of Princess Badee'a Teaching Hospital. A standard method for measuring flux by using radioactive rubidium was used. 3. Okadaic acid strongly inhibited swelling-stimulated KCl cotransport if added before swelling. Okadaic acid and sodium fluoride added before NEM inhibited the activation of transport by NEM. Okadaic acid added after NEM did not inhibit transport. 4. The inhibition of the effects of NEM by okadaic acid and sodium fluoride indicates that activation of the flux by NEM requires the action of phosphatase.

The prevalence of hepatitis B, hepatitis C and human immune deficiency virus markers in multi-transfused patients.

All patients presenting with hereditary hemolytic anemia, (n = 143) over a period of 18 months were enrolled in a study to evaluate the prevalence of hepatitis B, hepatitis C and HIV in multi-transfused patients in Jordan, and to identify possible related risk factors. All patients were treated in the Thalassemia Unit at Princess Rahma Teaching Hospital. Relevant clinical data were collected. Blood specimens were taken from these patients and tested for HbsAg, HbsAb, hepatitis core IgMAb, hepatitis core IgGAb, HCVAb, and ELISA for HIV. Fifty-eight (40.5 per cent) of the specimens were HCVAb positive, while only five (3.5 per cent) of them were positive for HBsAg. None of the specimens were positive for HIV. The frequency of blood transfusion and the time of diagnosis before or after 1995, were investigated as possible risk factors for viral seropositivity. Only the time of diagnosis was a statistically significant risk factor for HCVAb positivity (OR = 4.49; p = 0.005). In conclusion, hepatitis C acquisition is a serious risk for multi-transfused patients in Jordan. Hepatitis B is relatively less common. Blood screening initiated after 1995 in Jordan has significantly reduced the risk of hepatitis C associated with blood transfusion.

Effectiveness of iron therapy on breath-holding spells.

OBJECTIVE: The objective of this study is to investigate the effect of iron therapy on breath-holding spells (BHS). METHODOLOGY: Sixty-seven children with BHS were enrolled in a clinical trial to evaluate the effect of iron therapy on BHS. At the beginning of therapy, the clinical, laboratory, and demographic characteristics of the patients in the treatment group (n = 33) and placebo group (n = 34) were comparable. Patients were assessed weekly for the first 8 weeks and then every 2 weeks for the next 8 weeks. Response to therapy was assessed by the change in the frequency of BHS. RESULTS: Children treated with iron showed significant reduction in the frequency of BHS (88%) compared with the frequency (6%) in the placebo group. As expected, the treated group showed a significant improvement of a number of blood indexes compared with the placebo group. Baseline mean levels of hemoglobin and total iron binding capacity were predictive of a favorable response to iron treatment. CONCLUSION: Results of this study indicate that iron therapy is effective in the treatment of BHS and that iron-deficient children seem to be more likely to benefit from such therapy. Response to iron therapy was strongly correlated with improvement in blood indexes.

The clinical spectrum of Henoch-Schönlein purpura in infants and young children.

UNLABELLED: Henoch-Schönlein purpura is a common cause of childhood vasculitis. The rarity of the disease under 2 years of age has been the subject of few reports. We present the clinical spectrum of Henoch-Schönlein purpura in 12 children younger than 2 years of age at presentation. The median age at presentation was 11 months. The purpuric skin rash was present in all patients and involved the face in 10 of them. While oedema was a prominent feature in all of our patients only one third had involvement of the kidneys, gastro-intestinal tract or joints. All patients recovered completely after a mean duration of follow up of 10.6 months (range 2-39 months). CONCLUSION: Henoch-Schönlein purpura under the age of 2 years is characterized clinically by oedema and a purpuric skin rash which frequently affects the face. Involvement of the joints, kidneys and gastro-intestinal tract is uncommon and the prognosis is excellent. The clinical spectrum in this age group is a continuation with that of Henoch-Schönlein purpura in older children suggesting a nosological entity.

Henoch-Schonlein purpura: clinical experience and contemplations on a streptococcal association.

Henoch-Schonlein Purpura (HSP) is a common cause of vasculitis in children. The role of an antecedent streptococcal infection is still controversial. The aim of this study is to verify such a relationship, as well as to provide a profile of the clinical features and the magnitude of this disorder in Jordan. We identified 69 cases of HSP below the age of 13 years between January 1991 and April 1994 admitted to the two main hospitals in northern Jordan. Thirty-five of these cases were prospectively enrolled during the last year of the study. Forty-three controls, frequency-matched to the cases on age and sex, were selected from the out-patient clinics of the same two hospitals. The minimum estimate of the annual incidence was 8.5/100,000. All patients recovered completely and were well after a mean period of follow-up of 16 months. The clinical features were essentially similar to those reported by others. Unusually, two of our cases followed mumps and one occurred after otitis media caused by Streptococcus pneumoniae. Forty-nine per cent of all patients in this series had evidence of a recent streptococcal infection (elevated antistreptolysin O titre) compared to 16 per cent of the controls. The difference was statistically significant (P = 0.004). This finding supports a role for antecedent streptococcal infection in the pathogenesis of HSP.

Effect of desferrioxamine in acute haemolytic anaemia of glucose-6-phosphate dehydrogenase deficiency.

The effectiveness of desferrioxamine (DFO) in ameliorating the severity of the acute haemolysis of glucose-6-phosphate dehydrogenase (G6PD) deficiency was studied in 167 children with G6PD deficiency during an acute haemolytic crisis. All patients received packed cell transfusion on admission if their Hb levels were <8 g/dl, which was repeated as needed. Eighty patients also received a single dose of DFO 30-40 mg/kg by slow intravenous infusion (DFO group). The remaining 87 children did not receive DFO (control group). The need for more than one transfusion was less frequent in the DFO group as compared to the control group (p = 0. 01). The need for late transfusion (transfusion after 36 h of admission) was also less in the DFO group (7%) compared to 21% in the control group (p = 0.02). On average, children in the DFO group needed less packed red blood cells (16.5 ml/kg body weight) than the control group (22.8 ml/kg body weight) and the difference was highly significant (p = 0.0001). We conclude from this study that DFO in a small dose is effective in the treatment of acute haemolytic crises of G6PD deficiency. It shortens the duration of the crisis and decreases the amount of blood transfusion needed.

Lack of effectiveness of dexamethasone in neonatal bacterial meningitis.

UNLABELLED: A clinical trial was conducted to determine whether dexamethasone as adjunctive therapy alters the outcome of bacterial meningitis in neonates. Fifty-two full-term neonates with bacterial meningitis were enrolled in a prospective study. Infants were alternately assigned to receive either dexamethasone or not. Twenty-seven received dexamethasone in addition to standard antibiotic treatment and 25 received antibiotics alone. Dexamethasone therapy was started 10-15 min before the first dose of antibiotics in a dose of 0.15 mg/kg per 6 h for 4 days. Baseline characteristics, clinical and laboratory features in the two groups were virtually similar. Both groups showed a similar clinical response and similar frequency of mortality and sequelae. Six (22%) babies in the treatment group died compared to 7 (28%) in the control group (P = 0.87). At follow up examinations up to the age of 2 years, 6 (30%) of dexamethasone recipients and 7 (39%) of the control group had mild or moderate/severe neurological sequelae. Audiological sequelae were seen in two neonates in the dexamethasone group compared to one in the control group. CONCLUSION: Adjunctive dexamethasone therapy does not improve the outcome of neonatal bacterial meningitis.

Indications and benefits of computed tomography in childhood bacterial meningitis.

Over a 5 year period, 58 children with acute bacterial meningitis underwent computed tomography (CT) of the head. The major stated indications were partial, complex, or prolonged seizures in children younger than 5 years (60 per cent) and prolonged fever in the case of those older than 5 years (60 per cent). Abnormal findings on CT scan were seen in 27 (47 per cent); the remaining 31 (53 per cent) patients had normal or only non-specific dilatation of spaces containing cerebrospinal fluid (CSF) or basilar enhancement. The commonest CT abnormalities were seen in those patients who presented with complex seizure disorders. The commonest abnormal findings were subdural collection (33 per cent) followed by hydrocephalus (7 per cent). Subdural collection was seen mainly in patients with Haemophilus influenzae bacterial meningitis (90 per cent) while hydrocephalus was mainly seen in tuberculous meningitis. Positive findings of obvious therapeutic clinical relevance were present in only six cases (10 per cent). From the study we concluded that head CT provides an accurate means of diagnosing intracranial complications of bacterial meningitis, but it must be used conservatively as it has limited therapeutic applications in children with complicated bacterial meningitis. Computed tomography is indicated mainly in children with persistent neurologic dysfunction like complex seizure disorder, and is of little value in children with prolonged fever alone.

Henoch-Schonlein purpura and streptococcal infection: a prospective case-control study.

A prospective, matched, case-control study conducted over a period of 3 years was designed to examine the association of group A beta-haemolytic streptococcal infections and Henoch-Schonlein purpura. Demographic and clinical data were collected as well as measurement of antistreptolysin O titres and throat swab culture on all children admitted with Henoch-Schonlein purpura, as well as their matched controls. Antistreptolysin O titre positivity was associated with a 10-fold increase in the risk of Henoch-Schonlein purpura. Renal involvement was common among cases with positive antistreptolysin O titres (27%) compared with cases with a negative titre (8%) but this difference has no statistical significance.

Bacterial meningitis: still a cause of high mortality and severe neurological morbidity in childhood.

Among 121 cases of bacterial meningitis (age 2 months to 12 years; mean, 35 months) treated over a 3-year period, Neisseria meningitidis was the most common pathogen (33 per cent), then Haemophilus influenzae (32 per cent) and Streptococcus pneumoniae (15 per cent). In the H. influenzae group, 95 per cent were aged below 2 years. Overall mortality was 12 per cent: higher in the S. pneumoniae (17 per cent) and less common organism (21 per cent) groups. Neurological sequelae in 21 (20 per cent) of the 106 survivors included hearing impairment in 17 and quadriparesis in eight. Meningitis caused by S. pneumoniae contained a significantly higher proportion of children with neurological morbidity (P = 0.0128). The addition of dexamethasone treatment during the third year produced an apparent but not significant trend towards less mortality (P = 0.7568), fewer neurological sequelae (P = 0.3401) and less hearing impairment (P = 0.3903). Despite the availability of effective chemotherapy, bacterial meningitis will remain an important cause of high mortality and considerable morbidity.

Sickle cell anaemia in Jordan and its clinical patterns.

Homozygous sickle cell anaemia (SCA) is an inherited red blood cell disorder in which haemoglobin A is replaced by haemoglobin S. The disease exhibits a wide spectrum of clinical behaviour which has been well described in neighbouring countries. In Jordan, however, the disease has never been characterized. We used reviews of patients' notes and clinic interviews at Princess Badi'a Teaching Hospital, Irbid, Jordan to describe the clinical presentation of the disease in our area. The total number of patients was 41 (28 boys and 13 girls) and the median age was 9 years (range 1.5-21). The median age at presentation was 2.5 years (range 0.5-11). The commonest presenting feature was pallor (62%). An unusual feature of the disease in this series is the presence of a palpable spleen in 44% of patients older than 8 years. Associated G6PD deficiency was present in 29% of boys. Different clinical patterns of SCA were observed. Haemoglobin F is unlikely to be an explanation for this variability since it has not been shown to correlate with a number of severity indices of the disease such as the frequency of blood transfusions, hospitalizations and painful crises. Although the disease haplotype is not known in Jordan, our geographical location between Asia and Africa may suggest the presence of more than one haplotype and consequently different clinical patterns.

Neonatal meningitis in northern Jordan.

A two-and-a-half year prospective study of neonatal meningitis in the two main referral hospitals in Northern Jordan was carried out to determine the clinical spectrum and particular characteristics of meningitis in the newborn. The 53 cases studied represented an incidence of 1.1 per 1000 live births. The commonest bacterial pathogen isolated was Klebsiella species (40 per cent) followed by Enterobacter (19 per cent). The mortality rate and neurological sequelae among surviving children were 32 and 39 per cent, respectively, with higher rates among preterm/low birth weight and early onset meningitis groups. Of the presenting clinical features, there was a highly positive association between two risk factors and outcome. A bulging anterior fontanelle was the only significant predictor of mortality (P = 0.009) and altered sensorium was the only predictive of post-meningitis sequelae (P = 0.016). The need to recognize that Klebsiella species is an increasingly important pathogen; cefotaxime or ceftazidime plus ampicillin are the most appropriate antibiotics to be used initially, and continuous surveillance thereafter have been stressed.

Malignant epithelial tumours in children: incidence and aetiology.

The purpose of this study was to establish the incidence of carcinomas in children, changes in incidence over a 30-year period, and to identify features of possible aetiological significance. A total of 173 cases were identified, but after review of the histopathology, 30 patients were excluded because they were considered to have benign epithelial tumours or malignant tumours of nonepithelial origin. Seven other cases were excluded because pathology material was not available. Overall, in 28% of cases, the diagnoses were changed by pathology review. Thus, 136 children in the West Midlands Region diagnosed 1957-1986 were included, with carcinoid tumours (44) and tumours of skin (22), nasopharynx (14), salivary gland (13), adrenal cortex (13), thyroid (9), large bowel (5), other (16). Excluding carcinoids, the age-standardised incidence rate was 2.4 x 10(6) per year. Male:female ratio was 0.7:1 and 66% were aged > 10 years. Incidence increased from 1.5 to 3.3 x 10(6) per year. Genetic factors predisposing to carcinoma included tyrosinosis, MEN II and III, congenital adrenal hyperplasia and basal cell naevus syndrome. There was a case of Li-Fraumeni syndrome and several other patients had relevant family histories. Probable "environmental" causes included antenatal exposure to stilboestrol or hydroxyprogesterone hexanoate, stilboestrol given for premature menarche, neonatal hepatitis and prior radiotherapy. The aetiology of carcinomas in children is multifactorial, both genetic and environmental factors being important. The incidence is increasing.