Epidemiology of nutritional rickets in children.

In most developing countries, nutritional rickets is a major health problem. The aim of this study was to explore the magnitude of nutritional rickets among Saudi infants, and the various clinical presentations, as well as to address the possible operating risk factors behind the disease. We carried out a retrospective study at King Abdulaziz Medical City-King Fahad National Guard Hospital in Riyadh, Saudi Arabia. The records of Saudi infants under the age of 14 months over a 10-year period (between January 1990 and January 2000) were reviewed. Infor-mation collected included age, sex, clinical presentations, biochemical, radiological findings, infant nutrition, presence of other nutritional deficiencies and exposure to sunlight. There were 283 infants diagnosed with nutritional rickets due to Vitamin D deficiency (67% males) who were between 6 and 14 months of age. Among the total, 70% were exclusively breast-fed, and 23% were breast-fed until the age of 1 year. The most frequent clinical presentation was hypo-calcemic convulsions (34%) followed by chest infections (33%) and gastroenteritis (25%). In conclusion, nutritional rickets is still prevalent in Saudi Arabia with the primary etiology being vitamin D deficiency. Therefore we recommend that every infant, who is exclusively on breast-feeding, has routine supplement of vitamin D in the range of 200 IU/day (alone or as apart of multivitamin), started soon after birth until the time of weaning.

Growth hormone: do we have a national perspective of indications for its use?

OBJECTIVE: Presentation of indications for growth hormone use in children, from the view of physicians practising in Saudi Arabia. METHODS: A questionnaire containing a list of common possible indications of growth hormone use was collected from 52 physicians practising in Saudi Arabia who were attending a didactic endocrinology course. RESULTS: All (100%) physicians considered growth hormone deficiency to be an indication. Sixty four and 29% considered Turner's syndrome and chronic renal failure to be indications. Other indications included Russell-Silver syndrome in 23%, X-linked hypophosphatemic rickets in 10%, Achondroplasts in 10%, Sickle cell anemia in 10% and Bartter's syndrome in 2%. Genetic and constitutional short stature were considered in 17 and 19%. Only 65% did not advocate the use of growth hormone for short non-growth hormone-deficient children. CONCLUSION: Indications of growth therapy are not clearly defined in Saudi Arabia. It is indicated to define this by a clear, national decided criteria which should take into consideration the internationally approved indications, availability and cost of this hormone.

Familial occurrence of congenital hypothyroidism due to lingual thyroid gland.

Two sisters who presented with midline neck masses proved to be biochemically hypothyroid. Thyroid scintigraphy supplemented with perchlorate discharge testing showed lingual thyroid glands and ruled out the expected autosomal recessive organification defect. The related literature is reviewed.

Congenital anomalies in infants with congenital hypothyroidism: is it a coincidental or an associated finding?

During the period between December 1988 and February 1995, a total of 279,482 newborn infants were screened in the regional neonatal screening program for congenital hypothyroidism (CH) in Riyadh province, Saudi Arabia. Eighty-one infants were confirmed to have CH giving an incidence of 1 in 3,450. Variable congenital anomalies, other than those of the thyroid gland, were present in 16 (19.8%). The anomalies most frequently encountered were congenital heart defects (7), unclassified multiple congenital anomalies (5) and Down's syndrome (2). The results of our study confirm this association, and emphasize the need to search for such anomalies in infants born with CH. Nationwide studies, however, on birth defects in the general population and those associated with CH are still needed to help us understanding the role of local genetic and environmental factors.

Transient iodine organification defect in infants with ectopic thyroid glands.

BACKGROUND: Thyroid gland ectopy is the most common cause in infants with congenital hypothyroidism (CH). Its association with iodine organification defect, as suggested by positive perchlorate discharge test (PDT) has been reported. However, whether such an association represents a true or transient defect has not yet been determined. This finding has an important clinical, epidemiological, and genetic implications. OBJECTIVE: To determine the natural history of iodine organification defect in patients with CH caused by thyroid ectopy detected by neonatal screening. DESIGN: Prospective longitudinal study. SETTING: King Khalid University Hospital, Riyadh, Saudi Arabia. PATIENTS AND METHODS: PDT was performed, at the time of diagnosis and follow-up, in infants who showed an enlarged ectopic thyroid gland with a Tc-99m pertechnetate uptake of 2% or more. RESULTS: Of 115 neonates with ectopic thyroid glands, 19 showed an enlarged gland with Tc-99m uptake ranging from 2 to 3.2%. Perchlorate discharge test was performed in 13 of these and was consistent with iodine organification defect in nine. Repeated PDT in seven patients showed normal values. CONCLUSION: The results of the authors' study indicate the transient nature of the iodine organification defect and suggest that a delay in the developmental of synthetic mechanisms occur in the dysgenetic glands.

Congenital hypothyroidism: increased incidence in Najran province, Saudi Arabia.

Neonatal screening for congenital hypothyroidism using cord serum thyroid-stimulating hormone (TSH) was initiated in Najran health region in September 1990. A total of 30810 newborn infants were screened by April 1995. Of the 24 infants with abnormal thyroid function tests on recall, 22 had permanent primary congenital hypothyroidism (incidence; 1:1400) and in two male siblings transient congenital hypothyroidism (incidence; 1:15400) was proved on follow-up. There was a significantly higher incidence of dyshormonogenesis. Eight (57 per cent) of the 14 infants who were adequately studied thyroid scan revealed ectopic glands with increased 99mTc uptake, while thyroid ectopy and aplasia were present only in three (22 per cent) infants each. Furthermore, goiter was evident clinically in two other patients.

Normal levels of the natural anticoagulants (proteins C & S and antithrombin III) and the fibrinolytic factors (tPA and PAI) in Arab children.

The diagnosis of many hemostatic defects in infancy and childhood depends on the establishment of normal levels of various hemostatic factors. In this study, measurements of the natural anticoagulants (proteins C, S, and antithrombin III), as well as the fibrinolytic factors (tPA and PAI) were undertaken in healthy neonates (cord blood; n = 56), as well as in healthy children, up to 12 years of age (n = 103). The results were compared to normal adult values obtained from blood donors (n = 49). Neonatal values were found to be 50% of those obtained in adults and their mean concentrations were as follows: ATIII antigen = 48.4%, ATIII activity = 61.6%, protein C antigen = 47.7%, protein C activity = 57.2%, total protein S = 41.8% and tPA = 1.9 ng/mL. PAI level (25.7 ng/mL) was similar to adult values. In the first three years of life, almost all the hemostatic factors, other than PAI, gained adults levels. The diminished concentrations of the natural anticoagulants, in addition to the hypofibrinolysis in neonates, shifts the hemostatic balance towards fibrin formation and safeguards effective hemostasis. The values obtained in this study may serve as local reference values.

Obstetrical brachial plexus injury in newborn babies delivered by caesarean section.

The hand surgeon is frequently involved in the medicolegal assessment of birth palsy cases. Although brachial plexus injury has been reported in newborns delivered by Caesarean section, it is difficult to determine if these cases are due to excessive force when delivering the infant from the uterus or whether the palsy is related to other factors. We have studied our series of 16 cases of obstetrical brachial plexus palsy with special attention to the newborn baby delivered by Caesarean section. We have reviewed the English literature over the last decade and found that birth palsy in newborns delivered by Caesarean section is extremely rare (1% of all birth palsy cases). The differentiation between brachial plexus injury caused by forcible delivery and congenital upper limb palsy from other causes is discussed.

Sex reassignment: A challenging problem - current medical and islamic guidelines.

Sexual ambiguity is a complex and often confusing medical problem. In addition to the life-threatening adrenal crises which may accompany some forms, ambiguity of the genitalia may lead to incorrect sex assignment by parents and/or health personnel. Children who present to medical attention beyond the neonatal period constitute a challenging problem due to the grave consequences of this condition. Thirty cases in whom sex reassignment was indicated were seen at King Khalid University Hospital, Riyadh, over a 10-year period. Of these, 27 (90%) were genetic females (20 were 21- and seven were 11-hydroxylase deficient) and three (10%) were genetic males (two partial androgen insensitive and one 5alpha-reductase deficient). All genetic males who were incorrectly assigned as females accepted reassignment. But 9 out of 27 (33%) of the genetic females who were incorrectly assigned as males refused reassignment. Preference for male sex assignment, delayed diagnosis and sociocultural circumstances seem to be the contributing factors for refusal. A national consensus about this important issue strengthened by the existing religious recommendations in demanded.

Neonatal screening for congenital hypothyroidism in Riyadh: Analysis of six year's experience.

The regional screening program for congenital hypothyroidism (CH) in Riyadh Province was started as a pilot study in December 1988. By September 1990, the program covered all deliveries at the Ministry of Health (MOH) and King Saud University hospitals. The program utilizes cord serum thyroid-stimulating hormone (TSH) with a low recall rate of 0.1%. The average cost per specimen was SR 12 (US$ 3.20). Among 283,647 infants screened, 83 infants were confirmed to have CH (incidence 1:3417). In 17 infants, however, the diagnosis was not confirmed due to difficulties in recall. Eleven infants with cord serum TSH of more than 100 mU/L proved to be clinically and biochemically euthyroid at recall. Three of these were secondary to maternal proplthiouracil (PTU) therapy. The female to male ratio was 1.5:1. The majority of infants lacked clinical symptoms and signs of hypothyroidism. Thyroid scans showed the most common etiology to be thyroid ectopy (50%), followed by dyshormonogenesis (26%) and athyrosis (24%). Although there was no significant difference in the mean cord T4 values among the different groups, the mean T4 value at recall in the athyrotic group was significantly (P <0.001) lower than the cord results (14.8 versus 62.7) and that is of recall for the ectopic and dyshormonogenesis groups (14.8 versus 47.0 and 51.3 respectively0. There was bo significant difference in the mean TSH among the different groups in the cord and recall samples. Skeletal maturation was more delayed in the athyrotic group. The mean age at the time of recall was 16.4 days (range 4 to 64), and the mean age at the start of therapy was 17.8 days (range 5-64).

Renal sonographic patterns in Bartter's syndrome.

The renal sonographic findings in ten cases of Bartter s syndrome investigated at the King Khalid University Hospital, Riyadh, Saudi Arabia are described. There were various sonographic abnormalities other than those of hyperechoic pyramids as previously described. These were diffuse increased renal echogenicity and hyperechoic echogenicity in the kidneys with the exception of the pyramids. This condition can be suspected early if nephrocalcinosis is present in a child with a history of polyhydramnios and premature delivery.

Congenital adrenal hypoplasia: A disorder frequently missed.

Congenital adrenal hypoplasia is a rare disease which is known to cause severe salt wasting in the neonatal period. In this report, we describe three patients from two different families who were seen at King Khalid University Hospital, Riyadh, Saudi Arabia. All patients presented with classical clinical, biochemical, hormonal and radiological findings of congenital adrenal hypoplasia. To the best of our knowledge, no similar cases were reported from this part of the world.

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.

Ambiguous genitalia: comparative role of pelvic ultrasonography and genitography.

Ambiguous genitalia represents a true medical and social emergency which needs a multi-disciplinary team approach for elucidation. The paediatric radiologist plays an important role in defining the genital anatomy which remains one of the most important factors in sex determination. Aiming to compare the predictive value of pelvic ultrasonography and genitography in sex determination in patients with ambiguous genitalia, we retrospectively reviewed the medical records of 69 patients, 53 females and 16 males, where both procedures were employed. In female pseudohermaphroditism, the presence of a uterus with or without vagina was predicted in 46 (86.8%) patients by ultrasound compared with 44 (83%) patients in whom a genitogram revealed a vagina +/- uterus. In six (11.3%) patients, a genitogram revealed a male-type urethra. The combination of ultrasound and genitogram, however, was more sensitive and predicted the presence of a uterus with or without vagina in 52 (98.1%) patients. In male pseudo-hermaphroditism, there was no false positive by ultrasound, and a genitogram revealed a male-type urethra in 12 (75%) patients. In conclusion, although real time pelvic ultrasonography is less invasive than genitography, its yield in elucidating genital anatomy is comparable. The combination of both procedures is more informative and has a better yield.

Congenital adrenal hyperplasia in a referral hospital in Saudi Arabia: Epidemiology, pattern and clinical presentation.

Eighty-two children (30 males and 52 females) with congenital adrenal hyperplasia (CAH) were seen at King Khalid University Hospital (KKUH) over a 10-year period. Of these, 74 (90.2%) were Saudis and eight (9.8%) non-Saudis. Fifty-nine (72%) patients were 21-hydroxylase deficient. Of these, 56 (95%) had variable degrees of salt depletion. Nineteen (23.2%) patients had a deficiency of 11-ss-hydroxylase enzyme and four (4.8%) showed deficiency of 3-ss-hydroxysteroid dehydrogenase. The consanguinity rate was high (71.2%) and positive family history was documented in 45.8%. Thirty-nine infants deaths occurred within 25 families. The diagnosis was often delayed. Of the 52 females, 27 (52%) were initially assigned male sex. These results indicate the importance of physicians' awareness and the need for a neonatal screening program for early detection and appropriate management.

Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency in Saudi Arabia: clinical and biochemical characteristics.

Over a 10-year-period, 78 Saudi children with congenital adrenal hyperplasia were seen at King Khalid University Hospital, Riyadh. Of these, 20 (25.6%) patients from 11 families were 11 beta-hydroxylase deficient. Their mean age was 2.8 years (range 0-10 years). The clinical expression was somewhat severe; pseudoprecocious puberty in males and variable degrees of virilization in females which led to wrong sex assignment in seven (58.3%). Three patients had neonatal salt-wasting before treatment. Moderate to severe hypertension associated with hypokalaemia was present in another six. In four siblings hypertension persisted inspite of adequate hydrocortisone therapy. It is concluded that congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is relatively frequent among the Saudi Arabian population. In view of the severity of the clinical expression and complications, physicians should be aware of the disease and have a high index of suspicion in order to detect and treat such patients early enough to avoid or minimize the unwanted sequelae.

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.

Isolated adrenocorticotropin deficiency as a rare cause of hypoglycaemia in children. Further studies and report of an additional case.

An 11.5-year-old boy presented with recurrent attacks of hypoglycaemic coma. Endocrine investigations indicated adrenocortical insufficiency secondary to isolated ACTH deficiency, how ACTH and cortisol plasma levels with normal secretory reserve of other anterior pituitary hormones. The absence of ACTH response after corticotropin releasing factor and insulin-induced hypoglycaemia suggested a failure of primary pituitary ACTH-secreting cells. Among other hormone-secreting cells, pituitary cell circulating antibodies were negative. CT scan and MRI failed to reveal any anatomical abnormality of the sella or suprasellar area.

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.

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.