Acute myocardial infarction in a 13-year-old boy with Duchenne's disease

A 13-year-old boy with Duchenne's muscular dystrophy suffered an acute myocardial infarction as shown by typical electrocardiographic and enzyme changes, and by the results of radionuclide studies. this is the third reported case of the acute myocardial infarction in a patient with Duchenne's muscular dystrophy.     

Encephalitis in a 13-year-old boy following 17D yellow fever vaccine

We report a case of encephalitis following yellow fever vaccine in a healthy 13 year-old-boy. This is the first reported case in a child older than 3 years of age and the second over the age of 9 months, before which time the vaccine is contraindicated for routine immunisation.     

A dispermic chimerism in a 2-year-old Caucasian boy

 Detection of two different cell populations in a child is a rare event. The following case of a dispermic chimera was diagnosed before surgery due to problems in blood group determination. A 2-year-old phenotypically male child was admitted for correction of a penoscrotal hypospadia and unilateral cryptorchism. During presurgical laboratory investigation, difficulties in blood group determination occurred. Blood group typing was performed by the DiaMed-ID Micro Typing System and by FACS. Additionally, cytogenetic analysis of lymphocytes and analysis of DNA polymorphisms in different tissues were performed. Two populations of red blood cells were detected, 0 cells accounting for 75% and B cells for 25%. Analysis of DNA-PCR polymorphisms in lymphocytes, nails, and in cells of the oral mucous membrane demonstrated a chimerism, with two alleles inherited from the father and one from the mother. A cytogenetic analysis of cultured lymphocytes showed a mosaic 46,XY/46,XX. Surgery revealed a prostatic utricle grade III, also called pseudovagina; genitography confirmed a vagina. Bilateral gonad biopsy showed a testis on one side and an ovary on the other. This case of chimerism represents a true hermaphroditism that most probably developed by double fertilization of one or more egg nuclei by two sperms. Received: September 4, 1998 / Accepted: March 30, 1999     

Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A

The activity of the factor VIII coagulation protein can be measured by three methods: a one or two-stage clotting assay and a chromogenic assay. The factor VIII activity of most individuals with mild hemophilia A is the same regardless of which method is employed. However, approximately 30% of patients show marked discrepancies in factor VIII activity measured with the different methods. The objective of this study was to investigate the incidence of assay discrepancy in our center, assess the impact of alternative reagents on factor VIII activity assays and determine the usefulness of global assays of hemostasis in mild hemophilia A. Factor VIII activity was measured in 84 individuals with mild hemophilia A using different reagents. Assay discrepancy was defined as a two-fold or greater difference between the results of the one-stage and two-stage clotting assays. Rotational thromboelastometry and calibrated automated thrombography were performed. Assay discrepancy was observed in 31% of individuals; 12% with lower activity in the two-stage assay and 19% with lower activity in the one-stage assay. The phenotype could not always be predicted from the individual’s genotype. Chromogenic assays were shown to be a suitable alternative to the two-stage clotting assay. Thromboelastometry was found to have poor sensitivity in hemophilia. Calibrated automated thrombography supported the results obtained by the two-stage and chromogenic assays. The current international guidelines do not define the type of assay to be used in the diagnosis of mild hemophilia A and some patients could be misclassified as normal. In our study, 4% of patients would not have been diagnosed on the basis of the one-stage factor VIII assay. Laboratories should use both one stage and chromogenic (or two-stage) assays in the diagnosis of patients with possible hemophilia A.     

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

A 7-year-old boy demonstrating hepatosplenomegaly, mild anaemia, mild mental retardation, yellow-brown teeth and dark red urine had excessively elevated levels of urinary delta-aminolevulinic acid, porphobilinogen and uroporphyrin. Furthermore hepta-, hexa-, penta- and copro(I)porphyrins were highly increased in urine. This pattern of porphyrin precursor and metabolite excretion is characteristic of acute intermittent porphyria. The decreased copro(III)/copro(I+III) ratio, normally not found in acute intermittent porphyria, is discussed. The porphobilinogen deaminase activity in red cells was decreased to 2-4%. Mutation analysis revealed a novel homozygous L81P mutation in exon 6 of the porphobilinogen deaminase gene. The father and mother, shown to be gene carriers of the same mutation, are asymptomatic and have normal urinary porphyrin precursor and metabolite excretion.     

Pneumococcal sacroiliitis in a 4-year-old boy

Pyogenic sacroiliitis is an extremely rare manifestation of invasive pneumococcal disease in childhood as only four cases have been described to date. We report and comment on a case of pneumococcal sacroiliitis in a 4-year-old boy. This patient was diagnosed promptly on account of the symptom triad of fever, buttock pain, and limping gait, along with characteristic findings in magnetic resonance imaging (MRI) and bone scans, and recovered fully after 6 weeks of antimicrobial therapy. Pyogenic sacroiliitis is an uncommon disease in which the diagnosis is often delayed because of nonspecific clinical presentation. The key to successful management is early diagnosis in which MRI and bone scan findings play a crucial role. If the diagnosis is established promptly, most patients can be managed successfully following the therapeutic principles used in other osteoarticular infections.     

Plasma lipids and apolipoproteins in a 13-year-old boy with diabetic ketoacidosis and extreme hyperlipidemia

A 13-year-old boy with untreated diabetes presented in severe ketoacidosis (DKA) for the first time with an initial triglyceride (TG) level of 14,461 mg/dl. Serial blood samples were drawn to determine the interrelationships of changes in lipids and apolipoproteins during treatment with insulin and intravenous fluids. The TG level declined to 122 mg/dl in 7 days concomitant with a lowering of apolipoproteins C-II, C-III, E, D, and F. Further observations suggested that the TG-rich lipoproteins underwent degradation associated with a decline in the levels of apolipoproteins associated with very low density lipoprotein (VLDL) in contrast to an increase in high density lipoprotein-cholesterol (HDL-C), ApoA-I and ApoA-II. ApoB and low density lipoprotein cholesterol (LDL-C) were increased transiently. Subsequent therapy with continuous subcutaneous insulin infusion (CSII) were effective in maintaining glucose homeostasis and normolipidemia for 6 months.     

Isolated eosinophilic mesenteric vasculitis with extensive thrombosis and splenic infarction in a 13-year-old boy

There are no generally accepted diagnostic criteria for primary systemic vasculitis, and the application of classification as diagnostic criteria is not feasible and may even be misleading. We report a case of a 13-year-old boy with acute abdomen who was found to have isolated eosinophilic mesenteric vasculitis with extensive thrombosis and splenic infarction. All serological tests were negative, including antineutrophil cytoplasmic antibody. The vasculitis had been successfully controlled with surgical intervention, steroid, and cyclophosphamide therapy. This may be an atypical presentation of Churg-Strauss syndrome.     

Rectal cancer in a 13-year-old boy without a detectable germline mutation in FAP and HNPCC genes

Hereditary non-polyposis colorectal cancer (HNPCC) is characterized by familial clustering and early onset. It is unclear, however, whether the early onset of colorectal cancer necessarily represents HNPCC. A 13-year-old patient had rectal cancer and underwent curative surgery. DNA from this patient was examined for replication errors (RER) and genes related to familial colorectal cancer (APC, hMSH2, and hMLH1). The patient had a negative family history of colorectal cancer, did not show the RER phenotype, and had no germline mutation of the APC, hMSH2, and hMLH1 genes. The present case suggests that an unusually young patient with colorectal cancer is not always an HNPCC proband. Observation over time, however, will be needed, as a first mutator of familial colorectal cancer could be missed. Received: May 14, 1998/Accepted: November 27, 1998     

Prenatal diagnosis of classic hemophilia (hemophilia A) by immunoradiometric assays

During the period from 1978 to 1983, 92 pregnancies have been evaluated by fetoscopy for the prenatal diagnosis of hemophilia A. Satisfactory fetal plasma samples were obtained in 80 instances and the diagnosis--or exclusion--of hemophilia was made by immunoradiometric assay of the factor VIII coagulant protein (VIII:CAg). The accuracy of the diagnosis established by fetoscopy has been verified after delivery or termination, and there have been no misdiagnoses resulting from laboratory error. Additional evidence for the accuracy of the analysis was the observation that the frequency of hemophilia in pregnancies of obligate carriers of the hemophilia gene, and of women whose plasma assays were indicative of the carrier state, was 29 of 59 fetuses at risk. In one case of cross-reacting material-positive hemophilia, samples obtained at fetoscopy and from the newborn infant had normal VIII:CAg levels but the infant had decreased factor VIII procoagulant activity. There were five fetal deaths resulting from fetoscopy in 55 pregnancies not intentionally terminated. Although only a small percentage of pregnant hemophilia carriers in the United States have elected to undergo fetoscopy for prenatal diagnosis, this procedure has allowed a number of pregnancies to go to term with delivery of normal males in families that were not willing to accept the risk of a hemophilic child. In eight instances, fetoscopic evaluation was sought for two successive pregnancies.     

Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy

A rearrangement of exon 13 in the factor VIII gene has been identified as the causative mutation in 32% of Northern Italian patients with mild hemophilia A. We have demonstrated that all share a common haplotype, thus suggesting that the mutation likely occurred in a single ancestor. To date, no predominant mutation has been identified in mild hemophilia A, therefore it would be extremely useful to carry out more extensive studies to ascertain whether the mutation is confined to northern Italy.