ABSTRACT
A surgical approach is the choice in young infants with MTH, who are furthest from the time of physiological involution of the thymus, and when the thymus achieves the largest relative size, a surgical approach is the choice. Steroid therapy has been shown to be ineffective (4, 9, 16, 18-20). No surgical complications have been reported, and the outcome is excellent. Recurrence has been seen in only one case.
Subject(s)
Hydronephrosis/diagnostic imaging , Ureteral Diseases/diagnostic imaging , Vascular Malformations/diagnostic imaging , Vascular Malformations/pathology , Class I Phosphatidylinositol 3-Kinases/genetics , Exons , Female , Foot Deformities, Congenital/genetics , Foot Deformities, Congenital/pathology , Heterozygote , Humans , Infant, Newborn , Magnetic Resonance Imaging , Mutation , Polydactyly/genetics , Polydactyly/pathology , Toes/abnormalities , Vascular Malformations/geneticsABSTRACT
The diagnosis of inflammatory myofibroblastic tumor is based on radiology and histology. The treatment is surgical, and the prognosis is good. For this reason, although this lung disease is rare, when a child show up at hospital with an unknown hemoptysis, this medical condition should not be underestimated.
ABSTRACT
Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal-onset PS cases to stress the importance and limitations of BM evaluation at this age.
Subject(s)
Acyl-CoA Dehydrogenase, Long-Chain/deficiency , Anemia, Macrocytic , Bone Marrow , Hematopoietic Stem Cells , Lipid Metabolism, Inborn Errors , Mitochondrial Diseases , Muscular Diseases , Acyl-CoA Dehydrogenase, Long-Chain/metabolism , Anemia, Macrocytic/metabolism , Anemia, Macrocytic/pathology , Bone Marrow/metabolism , Bone Marrow/physiology , Congenital Bone Marrow Failure Syndromes , Female , Hematopoietic Stem Cells/metabolism , Hematopoietic Stem Cells/pathology , Humans , Infant, Newborn , Lipid Metabolism, Inborn Errors/metabolism , Lipid Metabolism, Inborn Errors/pathology , Mitochondrial Diseases/metabolism , Mitochondrial Diseases/pathology , Muscular Diseases/metabolism , Muscular Diseases/pathologySubject(s)
1-Deoxynojirimycin/analogs & derivatives , Failure to Thrive/drug therapy , Glycoside Hydrolase Inhibitors/therapeutic use , Hydrops Fetalis/diagnosis , Hydrops Fetalis/drug therapy , Lysosomal Storage Diseases/diagnosis , Lysosomal Storage Diseases/drug therapy , 1-Deoxynojirimycin/therapeutic use , Abdomen/diagnostic imaging , Abdomen/physiopathology , Failure to Thrive/diagnosis , Humans , Infant, Newborn , Male , Treatment OutcomeSubject(s)
Amino Acid Metabolism, Inborn Errors/metabolism , Brain Diseases, Metabolic/metabolism , Diabetes Mellitus, Type 1/metabolism , Glucose/metabolism , Glutaryl-CoA Dehydrogenase/deficiency , Glutaryl-CoA Dehydrogenase/metabolism , Homeostasis/genetics , Homeostasis/physiology , Humans , Infant , MaleABSTRACT
The human HADH gene encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, the enzyme which catalyzes the third step of the ß-oxidation of the fatty acids in the mitochondrial matrix. Loss-of-function mutations in the HADH gene lead to short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency, an autosomal recessive genetic defect of unknown prevalence with a wide spectrum of phenotypic variability. As in other metabolic diseases, the diagnostic relevance of the biochemical evaluations, plasma acylcarnitines, and urinary organic acids, are crucially dependent on the clinical conditions of the patient during specimen collection.This paper describes the eighth patient carrying a HADH gene mutation, a new homozygous deletion c.565delG leading to an early stop codon (p.V116Wfs124X), in an infant with hyperinsulininemic hypoglycemia, displaying abnormal patterns of plasma acylcarnitines and urinary organic acids. We conclude that, when the residual catalytic activity of the mutated enzyme is seriously reduced, the biochemical hallmarks of the disease, namely plasma 3-hydroxybutyrylcarnitine and urinary 3-hydroxyglutaric acid, are invariably present.
