Avascular necrosis of bone in children with leukemia: experience of pediatric hematology unit in kuwait.

Avascular necrosis of the bone (AVNB) is an uncommon serious complication of acute leukemia. Between the years 1997-2007, seven children with acute leukemia of different risk groups presented with symptoms, signs and investigational evidence of avascular necrosis of bone. They were all diagnosed during their maintenance chemotherapy except one patient who had AVNB post-transplant following hematological relapse. Six patients had avascular necrosis of the hip (AVNH), and one patient had avascular necrosis of the foot. Other complications for steroids, such as hyperglycemia were observed in some of the patients. The steroids were omitted in almost all patients immediately. Two patients had surgical intervention and the rest received conservative management. Two patients recovered fully and the rest are still under follow-up at orthopedic clinic pending further management.

Iodine status among pregnant women in Kuwait.

UNLABELLED: Up to now, little has been known about iodine intake and the prevalence of iodine deficiency (ID), if any, in Kuwait. Urinary iodine excretion (UIE) and changes in thyroid function during pregnancy were thus evaluated. METHODS: Urinary iodide level was measured in random urine samples collected from 326 pregnant women at different gestational trimesters. Blood samples were drawn for free T4 (FT4) and TSH level determination. RESULTS: Median UIE levels fall within the normal range during all gestational trimesters i.e. >100 microg/l. However, if the new suggested recommendation for pregnant women <140 microg/l, is applied, median UIE values during trimesters 2 and 3 indicate ID. Mean serum TSH levels increased between trimesters 1 and 3 (p<0.05), whereas serum FT4 decreased between first and second trimesters (p<0.05), and this reduction continued at the third trimester. Furthermore, an increase in TSH levels for subjects with mild and moderate ID (Mi and Mo, respectively) were noticed (p<0.05) during the second trimester. However, FT4 levels dropped in subjects with Mi and Mo ID during the first trimester (p<0.05). In conclusion, these results suggest that 56.8% of pregnant women had median UIE level <145 microg/l, associated with high TSH and low FT4 levels. CONCLUSION: Data obtained may indicate insufficient iodine intake among pregnant women in Kuwait.

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.

We describe the clinical features of a new syndrome causing hyperinsulinism in infancy (HI), severe enteropathy, profound sensorineural deafness, and renal tubulopathy in three children born to two pairs of consanguineous parents. This combination of clinical features is explained by a 122-kb contiguous gene deletion on the short arm of chromosome 11. It deletes 22 of the 39 exons of the gene coding for the SUR1 component of the KATP channel on the pancreatic beta-cell thereby causing severe HI. It also deletes all but two of the 28 exons of the USH1C gene, which causes Usher syndrome and is important for the normal development and function of the ear and the eye, the gastrointestinal tract, and the kidney, thereby accounting for the symptoms of deafness, vestibular dysfunction and retinal dystrophy seen in type 1 Usher syndrome, diarrhoea, malabsorption, and tubulopathy. This contiguous gene deletion provides important insights into the normal development of several body organ systems.

Kenny-Caffey syndrome: an Arab variant?

We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The 2 girls did not harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Kenny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This indicates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly. Our results suggest that these patients represent an Arab variant of Kenny-Caffey syndrome with characteristic microcephaly and psychomotor retardation. We suggest that all patients with Kenny-Caffey syndrome should be investigated for the 22q11 microdeletion. Other possible genetic causes for the Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormalities.

Incidence and severity of ketoacidosis in childhood-onset diabetes in Kuwait. Kuwait Diabetes Study Group.

In 1992, the diabetes registry was started in Kuwait, as part of DiaMond, a WHO multinational collaborative project on the incidence of childhood-onset diabetes. Children (243) aged below 15 years, were identified between 1 January 1992 and 31 December 1995. Children (203) were Kuwaiti and 40 were non-Kuwaiti children but resident of Kuwait. For the years 1992, 1993, the annual incidence of childhood onset diabetes for Kuwaiti children was 15.4 per 100,000 (95% confidence interval 12.9-19), and the degree of ascertainment was 92%. Polyuria, polydypsia, weight loss and nocturia were the most frequently reported symptoms; four children were in coma and one in shock at presentation. Nearly half of the children (49%) presented ketoacidosis (venous pH < 7.3 and/or plasma bicarbonate level < 18 mmol/l). and in 53 children (23.5%) it was severe (venous pH < 7.1 and/or plasma bicarbonate level < 10 mmol/l). In 62 children (25.5%) it was mild to moderate (venous pH 7.1-7.3 and/or plasma bicarbonate level 10.1-18 mmol/l). The incidence of severe ketoacidosis was similar in all age groups and sexes. All children recovered completely without major complications and no deaths were recorded. We conclude that diabetic ketoacidosis is a common presentation at the onset of diabetes in childhood in Kuwait and attests to the lack of awareness of general practitioners and parents to the symptoms and signs of diabetes in childhood.