ABSTRACT
The authors describe 5 cases, 3 boys and 2 girls, with idiopathic growth hormone deficiency in prepubertal age, treated with human growth hormone. In four of five cases the response to treatment with GH was relevant. Only in one case (F1) the response was negative. The results of this study confirm that rhGH is a safe and effective therapy in children with GHD.
Subject(s)
Growth Disorders/drug therapy , Growth Hormone/deficiency , Growth Hormone/therapeutic use , Adolescent , Child , Female , Growth Disorders/diagnosis , Humans , Male , Recombinant Proteins/therapeutic use , Retrospective StudiesABSTRACT
Two cases of cholelithiasis in children are reported. The first patient was a 10-year-old girl with hyperinsulinism and hypoglycemia as associated medical conditions. The second one was a 3-year-old boy who had no definable cause for cholelithiasis. Both patients were symptomatic. Recurrent abdominal pain was the main symptom. A specific and accurate diagnosis was readily made by ultrasound in both children.
Subject(s)
Cholelithiasis , Age Factors , Child , Child, Preschool , Cholecystectomy , Cholelithiasis/diagnostic imaging , Cholelithiasis/therapy , Female , Humans , Male , Ultrasonography , Ursodeoxycholic Acid/therapeutic useABSTRACT
A case of Wiskott-Aldrich syndrome is reported. At 2 months of age the infant was hospitalized because of petechiae, and a low platelet count was noted (range 30.000/90.000/mmc). During his stay in the Hospital he developed pneumonia, which lasted several weeks in spite of therapy. Subsequently he presented eczema and a defect of cell-mediated immunity, and the Wiskott-Aldrich syndrome was diagnosed. A short review of clinical and functional findings in this syndrome is reported.
Subject(s)
Wiskott-Aldrich Syndrome , B-Lymphocytes/immunology , Diagnosis, Differential , Humans , Infant , Leukocyte Count , Male , T-Lymphocytes/immunology , Wiskott-Aldrich Syndrome/diagnosis , Wiskott-Aldrich Syndrome/immunologyABSTRACT
The Authors report a family with synpolydactyly (or syndactyly type II) present in eleven out of thirty four members in five generations. Affected members do not show any other anomalies so that chromosomal or other genetic syndromes may be excluded. The possible mode of inheritance, the variability in expression, the penetrance in five generations are discussed. The peculiar bone deformities of hands and feet already reported by Cross et Al. are confirmed. The Authors presume that the present report is the first observation of synpolydactyly in an Italian family.
Subject(s)
Fingers/abnormalities , Syndactyly/genetics , Toes/abnormalities , Adult , Aged , Female , Humans , Infant, Newborn , Italy , Male , Middle Aged , PedigreeABSTRACT
The authors report some personal clinical observations. The polymorphic clinical course, the diagnostic procedure and the therapeutical management of the infantile Grave's disease are discussed. Pathogenesis is not clarified. Genetic factors are also analysed.
Subject(s)
Graves Disease , Age Factors , Child , Follow-Up Studies , Graves Disease/diagnosis , Graves Disease/therapy , Humans , Male , Methimazole/therapeutic use , Time FactorsABSTRACT
We report two cases of C.M.T.C., a rare cutaneous vascular anomaly, which is manifested at birth. It is a rare birth defect of unknown etiology; usually occurs sporadically. There is an association of C.M.T.C. with other congenital anomalies in at least 50% of the patients. On the basis of two cases, the clinical features of cutis marmorata telangiectasica congenita are described and the differential diagnosis discussed.
Subject(s)
Skin Diseases/congenital , Telangiectasis/congenital , Diagnosis, Differential , Female , Humans , Infant, Newborn , Male , Skin Diseases/diagnosis , Telangiectasis/diagnosisSubject(s)
Clonidine , Growth Disorders/diagnosis , Pituitary Function Tests , Adolescent , Child , Child, Preschool , Female , Growth Disorders/blood , Growth Hormone/metabolism , Humans , Insulin , Male , Time FactorsABSTRACT
The Authors describe a case of Klippel-Trénaunay Weber Syndrome in a 12 year old girl admitted in the Department of cardio vascular surgery of the "Nuovo Ospedale San Giovanni di Dio"; various flat angiomas were present in her lower limbs from birth, which increased in size with body growth; marble skin, teleangectasica edema were also present. Her lower left limb was asymmetric, no angiomas were present in the internal organs. It is the first case in her family, no minor signs of the syndrome were present in her parents.
Subject(s)
Angiomatosis/genetics , Klippel-Trenaunay-Weber Syndrome/genetics , Child , Female , Humans , Klippel-Trenaunay-Weber Syndrome/diagnosisABSTRACT
Behçet's disease, which is rarely observed in infancy, is a systemic inflammatory disease of unknown etiology, whose clinical feature consist in the triad of mouth ulcers, genital ulcers and iritis. A 14 years old girl has been studied in whom classical findings of Behøcet's disease were associated with neurological symptoms miming a neuro-Behøcet's syndrome, but which were caused by previous abuse in corticosteroid therapy. Interestingly some features (arthritis, gastrointestinal manifestations), which can be connected with Behøcet's disease, resulted to be present since the very first years of life. Partial features of the disease (arthritis or mouth ulcers) were present in three members of the patient's family on the father's side. Extensive immunological studies have been carried out. T and B lymphocyte number and function were normal. T-cell subsets (defined by monoclonal antibodies) and natural killer activity (both never examined in patients with Behøcet's disease) resulted to be within normal range. Secretory Component, which has been claimed to be absent in these patients, was normally present in saliva. A defect in neutrophil chemotaxis has been found which promptly improved by levamisole therapy. Authors discuss clinical, genetic and immunological findings of the patient, on the basis of a review of literature.