CUSHING'S SYNDROME IN A YOUNG GIRL

A girl of 15 years with Cushing's syndrome due to bilateral adrenal hyperplasia is reported. A course of external pituitary irradiation failed to produce a satisfactory remission and 4 months later total bilateral adrenalectomy was performed. The detailed results of steroid and other investigations performed before, during and after treatment are described, and the diagnosis and management of Cushing's syndrome due to bilateral adrenal hyperplasia are discussed.     

PARATYPHOID IN A 13 YEAR OLD GIRL

A 13-year-old English migrant girl was admitted to a surgical ward with the clinical picture of an acute abdomen. Several features of her presentation were, however, a little unusual, and in fact she was shown to be suffering from paratyphoid fever. The frequency of the enteric fevers and their importance in our community is mentioned, and some of the clinical features are briefly discussed.     

A CASE OF PRADER-WILLI SYNDROME IN A GIRL WITH A SMALL EXTRA CHROMOSOME

A characteristic case of Prader-Willi syndrome is reported in a girl who showed, additionally, the presence of a small extra chromosome, possibly a fragment of a D or G group chromosome. Available members of the proposita's family were found to be phenotypically and cytologically normal. The case is compared with those previously reported.     

INSULIN AND GROWTH HORMONE SECRETION IN A LEUKAEMIC GIRL WITH HYPOTHALAMIC SYNDROME

Abstract Schilirò, G., Russo, A., Sciotto, A. and Vigo, R. (Paediatric Clinics I and II, University of Catania, Catania, Italy). Insulin and growth hormone secretion in a leukaemic girl with hypothalamic syndrome. Acta Paediatr Scand, 66:261, 1977.—The authors report a girl with acute lymphoblastic leukaemia presenting hypothalamic syndrome characterized by meningeal leukaemia, hyperphagia and obesity. Insulin and growth hormone secretion, studied with arginine and insulin stimulation tests, showed a high peak of serum insulin and no response of growth hormone. Insulin and growth hormone responses to these tests reverted to normal after intrathecal methotrexate.     

AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME

A mentally retarded girl with some signs of de Lange syndrome is described. The proposita has a chromosomal aberration, inherited from her unaffected mother. One chromosome of group B and one of group D are engaged in the translocation, and the possibility of a third chromosome being involved in this rearrangement cannot be excluded. The proposita has a partial D trisomy. The variability of de Lange syndrome is discussed.     

COR TRIATRIATUM IN A 3 MONTH OLD INFANT An operable form of pulmonary hypertension

ABSTRACT. Wyler, F., Rutishauser, M. and Grädel, E. (Children's Hospital and Department of Heart Surgery, University of Basel, Switzerland). An operable form of pulmonary hypertension: Cor triatriatum in a 3-month-old infant. Acta Paediatr Scand, 63: 619, 1974. —In a 3-month-old infant the clinical picture and the diagnostic criteria of cor triatriatum are presented. In addition to the pressure differences between PC wedge and left atrium the angiocardiogram is pertinent for detecting this malformation. This easily operable condition should be included in the differential diagnosis in every case of pulmonary hypertension from elevated pulmonary venous pressure. This is, to our knowledge, the youngest patient reported with correct preoperative diagnosis and surgical cure.     

MUCOPOLYSACCHARIDOSIS IN A THREE MONTHS OLD INFANT Clinical and Ultrastructural Studies

A mucopolysaccharidosis is diagnosed in an infant aged 3 months. Clinical and X-ray data are not typical, while biological studies reveal an increased mucopolysacchariduria affecting both heparan and dermatan sulfate. Study of lysosomal hydrolases in the liver discloses a normal activity of β-galactosidase. Hepatic ultrastructure shows, in both parenchymal and Kupffer cells, the presence of clear inclusions analoguous to those found in typical mucopolysaccharidoses, although more numerous and generally smaller.     

A RE-INVESTIGATION OF AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME

ABSTRACT. Eeg-Olofsson, O. and Liedgren, S. (Departments of Paediatrics and Gynaecology and Obstetrics, University Hospital, Linköping, Sweden). A re-investigation of an inherited chromosome aberration in a girl with signs of de Lange syndrome. Acta Paediatr Scand, 70:575,.–An earlier report in this journal (1968) dealt with an inherited chromosome aberration in a girl with signs of de Lange syndrome and her family. A translocation between a 13–15 and a 4–5 chromosome, with the unbalanced proposita having an additional segment from one end of a 13–15 chromosome was found. A 6–12 chromosome involvement could not be excluded. The mother and two phenotypically normal sisters had a balanced karyotype. With modern technique a more complex translocation has been found. A part of one chromosome no. 5 is translocated to one chromosome no. 9, a fragment of this chromosome is probably translocated to one chromosome no. 13, and a part of this one is translocated to the first-mentioned chromosome no. 5. The mother and sisters have this balanced chromosomal aberration. The proposita in addition has two normal chromosomes no. 13. Thus she has a partial trisomy of chromosome no. 13. Reinvestigation of older reports on chromosomal aberrations in risk families in order to achieve a more reliable diagnosis in phenotypically normal members of the same family is emphasized.     

DISSEMINATED ARTHRITIS AND OSTEITIS BY CANDIDA ALBICANS IN A TWO MONTH OLD INFANT RECEIVING PARENTERAL NUTRITION

Abstract. The case of a two-month-old female infant, who after a severe diarrhoea treated with prolonged intravenous infusion in peripheral veins alternated with total parenteral feeding, developed a Candida albicans septicemia (accompanied by disseminated intravascular coagulation syndrome) is reported. The course of her disease was also complicated by multiple foci of osteoarthritis in both knees, in the left hip and in several long-bones. Radiographically the foci of Candida osteitis appeared as fine erosion of the cortex and minute round areas of osteolysis in the spongiosa, surrounded by a rim of perifocal sclerosis. During the acute stage of Candida sepsis a transitory cellular immunodeficiency was present. Treatment of Candida infection by 5-fluorocytosine was followed by complete recovery.     

THE CASE OF A 1-YEAR-OLD GIRL WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME

Hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by high serum ferritin levels in the absence of iron overload accompanied by early onset of bilateral cataracts. The authors report the case of HHCS in a 1-year-old girl in a family of German origin. Routine blood examination revealed serum ferritin levels up to 2530 μg/L. Slit-lamp examination showed bilateral cataracts. HHCS should be considered in cases of high serum ferritin level and bilateral cataracts, which can even occur in pediatric patients. A liver biopsy and bone marrow aspiration are unnecessary diagnostic procedures in cases of HHCS and repeated phlebotomies are harmful.     

RENAL TUBULAR ACIDOSIS AND HYPERGAMMAGLOBULINAEMIC PURPURA IN A 10 YEAR OLD GIRL WITH ROENTGENOGRAPHIC SIGNS SUGGESTING MEDULLARY SPONGE KIDNEY

A 10-year-old girl presenting roentgenographic signs suggesting medullary sponge kidney, renal tubular acidosis and hypergammaglobu-linaemic purpura is reported. The possible relationships between this conditions are discussed.     

THYROID CRISIS IN A 3-YEAR-OLD GIRL

A thyroid crisis in a 3-year old girl with previously untreated thyrotoxicosis and the treatment of it are described.     

RING CHROMOSOME 14 IN A MENTALLY RETARDED GIRL

Abstract. Iselius, L., Ritzen, M., Hui, T.-H., Olsson, K. and Eklöf, O. (Departments of Clinical Genetics, Pediatrics, Ophthalmology and Pediatric Radiology, Karolinska Hospital, Stockholm, Sweden). Ring chromosome 14 in a mentally retarded girl. Acta Paediatr Scand, 69:803, 1980.—A case of ring chromosome 14 in a 12-year-old girl, showing mental retardation, epilepsy and minor somatic abnormalities, is described and compared with five previously reported cases with the same chromosome aberration.     

EXTRASKELETICAL MALFORMATIONS IN THE JARCHO-LEVIN SYNDROME: POSTMORTEM STUDY OF THREE CASES

We report on pathologic examination of three autopsied newborns with Jarcho-Levin syndrome. The most important abnormalities noted were multiple extraskeletical defects such as cardiovascular, urogenital, respiratory, and central nervous system malformations. These cases add new information to the multiple vertebral segmentation defects found in this syndrome.     

POLYCYTHEMIA VERA IN A 12-YEAR-OLD GIRL: A Case Report

A case of a 12-year-old girl presenting with headache and splenomegaly and fulfilling the diagnostic criteria of polycythemia vera is reported. Her peripheral blood values were as follows: hemoglobin 18 g/dL, red blood cells 7,000,000/mm 3 , white blood cells 22,000/mm 3 , and platelets 1,248,000/mm 3 . Phlebotomy was performed initially but was ineffective. Afterward 100 mg/kg per day aspirin and 30/mg/kg per day hydroxyurea were given. The patient has been asypmtomatic for 1 year and her recent hemoglobin level is 15.5 g/dL, platelet count 922,000/mm 3 , and white blood cell 12,800/mm 3 . Polycythemia vera is an extremely uncommon disease in childhood and for this reason its treatment is not well established.