GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY IN A DUTCH FAMILY

ABSTRACT: Van Biervliet, J. P. G. M. (University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands). Glucosephosphate isomerase deficiency in a Dutch family. Acta Paediatr Scand, 64: 868, 1975.–A mentally retarded girl with severe hemolytic anemia due to glucosephosphate isomerase deficiency is described. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. Besides the glucosephosphate isomerase deficiency, a glutathione instability of unknown origin was found in the erythrocytes of the propositus.     

COMBINED TEST OF HYPOTHALAMIC-PITUITARY FUNCTION IN GROWTH-RETARDED CHILDREN TREATED WITH GROWTH HORMONE: II. Secretion of LH, FSH, TSH, Prolactin and ACTH

Abstract. P. C. Eskildsen, B. B. Jacobsen, K. W. Kastrup, S. Krabbe, P. E. Lebech and K. E. Petersen (The Children's Hospital Fuglebakken, Herlev Hospital and Frederiksberg Hospital, Copenhagen, Denmark). Combined test of hypothalamic-pituitary function in growth-retarded children treated with growth hormone. Acta Paediatr Scand, Suppl. 277: 14, 1979.—A total number of 23 patients treated with human growth hormone were retested by use of a combined pituitary stimulation test. Plasma concentrations of GH, FSH, LH, TSH, T₄, T₃, prolactin (PRL), ACTH and cortisol were measured before and after stimulation with hypoglycemia, TRH and LHRH. The test was performed in patients with persistent GH deficiency (group A) and patients with transitory GH deficiency (group B). In group A a normal pubertal development was found in three patients, whereas in prepubertal subjects the FSH/LH responses were smaller than those of prepubertal patients in group B. Also plasma ACTH increase was less pronounced in group A patients than in group B. In contrast, the plasma TSH and PRL responses were more sustained in group A than in group B. The secretory pattern of TSH and PRL was comparable in the two groups of patients. Thus, in patients with persistent GH deficiency additional multiple disturbances of the hypothalamic-pituitary function often appeared whereas in most patients with transitory GH deficiency the combined pituitary test was normal at the reinvestigation.     

Vitamin-D deficiency rickets in Jamaican children.

Vitamin-D deficiency is not as rare in Jamaica as previously believed. 9 children with vitamin-D deficiency rickets have been seen at the University Hospital of the West Indies during the past 5 years. All were over 3 years of age at time of presentation. Both dietary deficiency of vitamin D and lack of exposure to sunlight seem to be important causes. Children living in rural Jamaica seem to be more susceptible to the disease than those living in a city, due perhaps to more prolonged breast feeding and lack of fortified milk feeds on weaning.     

α1,-ANTITRYPSIN DEFICIENCY Pi Genotype ZO, SO und MO

ABSTRACT. Laurell, C.-B., Sveger, T. and Ljunggren, C.4. (Departments of Clinical Chemistry and Paediatrics, Malmö General Hospital, Malmö, and the Department of Paediatrics, Norrköping Central Hospital, Norrköping, Sweden). α₁-antitrypsin deficiency: Pi genotype ZO, SO and MO. Ada Paediatr Scand, 63: 855, 1974—Of 88 300 babies screened for classical α₁,-antitrypsin deficiency, samples from 98 were requested for Pi typing. Among the first 67 infants studied, one was found to have a Pi type suggesting incompatibility with the mother. The serum concentration of α₁,-antitrypsin was determined with electroimmunoassay and the Pi type by acid-crossed immunoelectro-phoresis. The family study produced strong evidence for the occurrence of an inherited Pi⁰ allele appearing as Pi genotype MO, SO and ZO with increasing degree of α₁-anti-trypsin deficiency. The phenotype Pi ZZ may cover subjects of genotype Pi ZZ and Pi ZO, which may complicate prognostic studies of classical a,-antitrypsin deficiency. However, the Z-allele seems to be at least 20 times more common than the 0 allele.     

Vitamin D deficiency rickets and vitamin B12 deficiency in vegetarian children

During the years 1978-83 four vegetarian children have been admitted to the pediatric departments of Ullevaal and Aker Hospitals in Oslo and Haukeland Hospital, Bergen, with the diagnosis of vitamin D deficiency rickets. One had vitamin B12 deficiency as well. All had been fed a vegetarian diet with some cows' milk, but without vitamin supplementation. All had marked hypocalcemia, and three had tetany or convulsions. All responded well to conventional doses of vitamin D therapy. Two of the mothers had vitamin D deficiency, and one of them also had vitamin B12 deficiency. This report describes the case histories of these children, and also discusses predisposing factors of vegetarian diets for the development of nutritional rickets.     

Vitamin D Deficiency Rickets and Vitamin B12 Deficiency in Vegetarian Children

ABSTRACT. During the years 1978-83 four vegetarian children have been admitted to the pediatric departments of Ullevaal and Aker Hospitals in Oslo and Haukeland Hospital, Bergen, with the diagnosis of vitamin D deficiency rickets. One had vitamin B₁₂ deficiency as well. All had been fed a vegetarian diet with some cows'milk, but without vitamin supplementation. All had marked hypocalcemia, and three had tetany or convulsions. All responded well to conventional doses of vitamin D therapy. Two of the mothers had vitamin D deficiency, and one of them also had vitamin B₁₂ deficiency. This report describes the case histories of these children, and also discusses predisposing factors of vegetarian diets for the development of nutritional rickets     

THYROXINE-BINDING GLOBULIN DEFICIENCY IN EARLY CHILDHOOD

ABSTRACT. Jacobsen, B. B., Hansted, L. C, Brandt, N. J., Haahr, J., Hummer, L., Munkner, T. and Sorensen, S. S. (Department of Paediatrics, Viborg Hospital, Children's Hospital Fuglebakken, Department of Paediatrics, Section of Clinical Genetics and Department of Nuclear Medicine, Rigshospitalet, Copenhagen, Denmark). Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins. Acta Paediatr Scand, 70:155, 1981. –Serial determinations of serum thyroxine (T4), triiodothyronine (T3), thyrotropin(TSH), thyroid hormone-binding globulin (TBG), prealbumin (TBPA) and albumin were performed in a euthyroid girl with TBG deficiency and in her mother for a period of 22 months after delivery. At 8 days old the child had a serum TBG concentration around 50% of normal level which remained essentially unchanged during infancy. Total serum T4 and T3 concentrations were low, the free serum T4, free serum T3 and serum TSH concentrations were normal. The mother had received thyroid hormone from the age of 15 years. Her serum TBG level at 6 weeks post partum was similar to that of non-pregnant adults but decreased to about 50% of normal level, indicating a TBG deficiency. She remained euthyroid after withdrawal of T4 therapy. Serum TBPA and albumin concentrations were normal in mother and child. An X-linked inheritance of the TBG deficiency was suggested from a study of the family.     

A TWO-CENTURY PERSPECTIVE OF SOME MAJOR NUTRITIONAL DEFICIENCY DISEASES IN CHILDHOOD

ABSTRACT: Vahlquist, B. (Department of Paediatrics, University Hospital, Uppsala, Sweden). A two-century perspective of some major nutritional deficiency diseases in childhood. Acta Paediatr Scand, 64:161, 1975.–In this review, dealing with historical aspects and the present day situation in developing countries, three major nutritional deficiencies among children are discussed, namely rickets, iron deficiency anaemia and protein energy malnutrition (PEM).     

Breath-holding attacks

Summary Thirty children between the ages of 2 months and 7 years, with the presenting complaint of breath-holding attacks of variable duration, were studied to assess the relative role of iron deficiency and psychological disturbances in the etiology of breath holding attacks and the value of iron therapy. Children with iron deficiency diagnosed by the estimation of serum iron, percentage saturation of iron-binding capacity and hematocrit values, were treated with either iron or multivitamins. There was a significant earlier improvement in those given iron. These observations indicate the usefulness of iron therapy in children with breath-holding attacks, in the presence of iron deficiency. From the Department of Pediatrics, Medical College and V.J. Hospital, Amritsar.     

Iodine deficiency in pregnant women and in their neonates in the central Anatolian region (Kayseri) of Turkey

Severe iodine deficiency disorders may have been eradicated in many parts of the world, but milder forms still exist and may escape detection. The aim of this study was to assess the iodine nutritional status of pregnant women and their newborns, and the prevalence rates and severity of iodine deficiency in the Kayseri region, which has appeared to be iodine deficient in previous studies. A cross-sectional voluntary screening study was performed in the Maternity Unit of the University Hospital. Seventy pregnant women and their babies participated in this study. Iodine deficiency with high prevalence of goiter, low urinary iodine excretion and high serum thyroglobulin concentrations were recognized among pregnant women and their babies in Kayseri. Regular administration of iodine, starting at preconception or in early pregnancy and continuing during the period of nursing, is recommended in these regions.     

On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency)

Marked fluctuations in mobility, known as the on-off phenomenon, frequently emerge during the course of chronic treatment with levodopa in patients with Parkinson's disease. Similar fluctuations in mobility and mental status have been observed in a 10-year-old Japanese girl with tetrahydrobiopterin deficiency (BH₄ deficiency) while receiving neurotransmitter and biopterin supplement. In order to define the underlying mechanisms for the phenomenon in our patient, we studied the temporal relationship between plasma levodopa levels and clinical status during oral (2.0 mg/kg per day) and continuous intravenous (2.0 mg/kg per 12 h) administration of the drug. Following each oral levodopa dose, the plasma concentration of levodopa peaked at 60–90 ng/ml within 60 min and fell to 5–15 ng/ml within 2 h. The clinical state of the patient varied acutely in parallel with the plasma levodopa concentrations. The clinical swings completely disappeared when the plasma levodopa concentrations were stabilized between 120–150 ng/ml by continuous infusion. Paradoxically, on awakening from sleep, she was invariably ambulatory despite very low plasma levodopa levels (<10 ng/ml). These observations indicate that the on-off phenomenon in our patient reflect the fluctuations of plasma levodopa levels as demonstrated in Parkinson's disease, but there may be substantial differences in levodopa transport across the blood-brain barrier and/or striatal dopamine-receptor interaction between Parkinson's disease and BH₄ deficiency.Abbreviation BH₄ tetrahydrobiopterin     

Effect of hypothermic post-treatment on hypoxic-ischemic striatal injury, and normal striatal development, in neonatal rats: a stereological study

Fundamental questions remain about the optimal temperature, duration, and mode of delivery that provide the best striatal neuroprotection from hypothermia after perinatal hypoxia-ischemia. This study used stereological methods to investigate whether a mild (i.e. 2 degrees C) or a moderate (5 degrees C) decrease in whole body temperature, for 6 h immediately postinsult, was neuroprotective for striatal medium-spiny neurons after perinatal hypoxia-ischemia in the rat. This study also investigated whether moderate hypothermia had any effect on normal striatal development. Hypoxia-ischemia or sham hypoxia-ischemia was induced on postnatal day (PN) 7. Pups were kept either normothermic, mildly hypothermic, or moderately hypothermic for 6 h immediately postinsult. The absolute number of striatal medium-spiny neurons was calculated using modern stereological methods. There was no significant difference in the absolute number of medium-spiny neurons in the right striatum after either mild hypothermia or moderate hypothermia. There was also no significant difference in the absolute number of medium-spiny neurons between the control normothermic and the control moderately hypothermic pups. The latter results suggest that moderate hypothermia for 6 h immediately postinsult may be a safe treatment for striatal medium-spiny neurons. Yet, neither mild nor moderate hypothermia alone for 6 h immediately posthypoxia-ischemia is neuroprotective for striatal medium-spiny neurons.     

线粒体基因13513G>A突变导致呼吸链酶复合物I缺陷Leigh综合征

Leigh综合征是由于线粒体呼吸链能量代谢障碍所导致的遗传性疾病,呼吸链酶复合物I缺陷是导致Leigh综合征的常见原因之一。该研究通过线粒体基因13513G>A突变分析首次确诊了1例中国人Leigh综合征患者。患儿为第一胎,12岁时出现抽搐,13岁时先后出现双眼视力下降,13岁来院就诊左眼颞侧视野缺损,痉挛步态,血液乳酸、丙酮酸增高,腓肠肌活检肌纤维内脂滴轻度增多;心电图检查显示不完全右束支传导阻滞;脑MRI显示双侧基底节对称性损害,符合Leigh综合征诊断,合并继发性癫癎。经基因分析证实患者存在线粒体基因13513G>A突变,导致线粒体呼吸链酶复合物I活性下降。治疗以多种维生素为主,补充左旋肉碱、辅酶Q10,同时给予卡马西平、苯巴比妥、丙戊酸等抗癫癎治疗。现在患儿16岁,休学,智力无明显倒退,体力、体重显著减退。Leigh综合征病因复杂,临床表现多种多样,该患儿以抽搐起病,合并视力减退,经基因分析明确了病因,有助于相关家庭的遗传咨询 。［中国当代儿科杂志,2009,11（5）：333-336］     

BORDERLINE GALACTOSEMIA

Abstract. Pettersson, R., Dahlqvist, A., Hattevig, G. and Kjellman, B. (Department of Paediatrics Central Hospital, Skövde and Department of Nutrition, University of Lund, Sweden). Borderline galactosemia. Acta Paediatr Scand, 69:735, 1980.—A family with combined heterozygosity for "classical" galactosemia (deficiency of uridyl-transferase) and for galactokinase deficiency is reported. The proband, who had this genetic combination was detected as newborn in the ordinary screening for galactosemia. A lactose tolerance test at the age of three months proved normal and he has no symptoms or signs on ordinary diet. The mother of the proband was not only heterozygot for "classical" galactosemia and galactokinase deficiency but also for the Duarte variant. She had a substantial urine excretion of galactose and high serum galactose after an oral lactose load. She had no clinical symptoms or signs. Patients with combined heterozygosity for galactosemia may develop cataracts and should be followed by clinical examinations.     

IRON DEFICIENCY IN SICKLE CELL DISEASE

Abstract. Nagaraj Rao, J. and Sur, A. M. (Department of Paediatrics, Medical College and Hospital, Nagpur, India). Iron deficiency in sickle cell disease. Acta Paediatr Scand, 69:337, 1980.—Iron studies were performed on 25 children with homozygous sickle cell disease. The majority (80%) of patients had never been transfused. Surprisingly, the results showed that all had low serum iron and low transferrin saturation. Three children had no marrow iron stores while the rest had diminished amounts of iron. This may be an important finding in view of recent efforts at fortifying common salt with iron. The exact effects of iron deficiency on sickle cell disease are not known and a controlled trial is called for.     

DIAGNOSTIC VALUE OF SUCROSE TOLERANCE TEST IN CHILDREN EVALUATED BY BREATH HYDROGEN MEASUREMENT

Abstract. Douwes, A. C., Fernandes, J., Jongbloed, A. A. (Sophia Children's Hospital and Neonatal Unit, Academic Hospital of the Erasmus University, Rotterdam, The Netherlands). Diagnostic value of sucrose tolerance test in children, evaluated by breath hydrogen measurement. Acta Paediatr Scand, 69:79, 1980.—An oral sucrose tolerance test was performed in a group of 103 children, aged between 3 months and 15 years because of episodic diarrhea and/or abdominal pains. Sucrose malabsorption defined as an abnormal increase in expired hydrogen, was found in only 3 children who suffered from congenital sucrase-isomaltase deficiency. This 1% incidence of sucrose malabsorption was lower than the incidence of lactose malabsorption found in this group (33 %). Mean rise in blood glucose during the sucrose test was higher (3.4 ± 1.4 vs. 2.4 ± 1.2 mmol/l, p < 0.0001) and the occurrence of false flat blood glucose curves was lower (3% vs. 12.8%, p < 0.05) than during the lactose test. These findings are consistent with the higher sucrase activity in the small bowel mucosa compared to lactase. In contrast to the lactose tolerance test, sucrose tolerance test should not be used as a screening procedure for secondary disaccharidase deficiency in children     

THE EFFECT OF DISACCHARIDES ON THE HYPERLACTACIDAEMIA OF GLUCOSE-6-PHOSPHATASE-DEFICIENT CHILDREN

ABSTRACT. Fernandes, J. (Department of Paediatrics, Sophia Children's Hospital and Neonatal Unit, Erasmus University, Rotterdam, The Netherlands). The effect of disaccharides on the hyperlactacidaemia of glucose-6-phosphatase-deficient children. Acta Paediat Scand, 63: 695, 1974.—Two unrelated children with hepatic glycogenosis due to glucose-6-phosphatase deficiency were investigated as regards the influence of dietary disaccharides on their hyperlactacidaemia. The disaccharides were administered orally as 10% solutions hourly during 12 hours in an A-B-A sequence, i.e. maltose-lactose-maltose, or maltose-sucrose-maltose. Each disaccharide was given in repeated doses. Blood lactate levels increased during the lactose or sucrose feedings and decreased during the maltose feedings, while normoglycaemia was maintained throughout the experiments. It is concluded that lactose and sucrose should be restricted in the diet of children with a glucose-6-phosphatase deficiency.     

3-HYDROXY-3-METHYLGLUTARYL COENZYME A LYASE DEFICIENCY

ABSTRACT. Shilkin, R., Wilson, G. and Owles, E. (Princess Margaret Hospital for Children, Perth, Western Australia). 3-Hydroxy-3-methylglutaryl Coenzyme A lyase deficiency: follow-up of first described case. Acta Paediatr Scand, 70:265, 1981. –We report the progress of a child with a defect in leucine metabolism due to a deficiency of 3-hydroxy-3-methylglutaryl Coenzyme A lyase activity. This child was reported briefly in 1976 when the abnormality was first suspected at which time he was 7 months old. He is now aged 4 years 7 months and appears to be well and developing satisfactorily. His diet has been difficult to control and the biochemical defect is extremely sensitive to small amounts of leucine in the diet.     

NEONATAL AORTIC THROMBOSIS: A Possible Clinical Manifestation of Cangenital Antithrombin III Deficiency

Abstract. Bjarke, B., Herin, P. and Blombäck, M. (Department of Pediatrics, Karolinska Institutet, S:t Göran's Children's Hospital and Department of Blood Coagulation, Karolinska Sjukhuset, Stockholm, Sweden). Neonatal aortic thrombosis. Acta Paediat Scand 63:297, 1974.–Two cases of neonatal aortic thrombosis are presented. Possible etiologies, as quoted in the literature, are discussed and the fact that the etiology seems to be unknown in at least half of the cases is stressed. The mothers of the two neonates presented had an antithrombin III (AT III) deficiency, which is associated with an increased tendency to thrombosis. One of the mothers had manifested such a tendency. The AT III deficiency as an ethiological factor for the thrombus formation in the two babies is discussed.