ABSTRACT
Vanishing bile duct syndrome is a rare paraneoplastic syndrome occasionally seen in pediatric Hodgkin lymphoma. It is usually regarded as a fatal disorder. Here, we present a case of vanishing bile duct syndrome cholestasis related to Hodgkin lymphoma that resolved after chemotherapy and radiation.
Subject(s)
Cholestasis , Hodgkin Disease , Paraneoplastic Syndromes , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Bile Ducts/pathology , Child , Cholestasis/etiology , Hodgkin Disease/complications , Hodgkin Disease/drug therapy , Hodgkin Disease/pathology , Humans , Paraneoplastic Syndromes/drug therapy , Paraneoplastic Syndromes/etiologyABSTRACT
Paraneoplastic presentations are often the initial presenting symptom of a malignant process. A 15-year-old female presented with a progressively growing, sclerotic lesion of the neck restricting the range of motion. She was found to have bilateral ovarian tumors that proved to be diffuse large B-cell lymphoma (DLBCL). After starting cyclophosphamide, vincristine, and prednisone (COP), she had a rapid and complete resolution of the sclerotic lesion, as well as a favorable response to the neoplastic process. In this report, we present a very rare case of extranodal lymphoma associated with a paraneoplastic skin lesion.
ABSTRACT
Congenital combined deficiency of the vitamin K-dependent coagulation factors is a rare bleeding disorder caused by either a defect in the gamma-glutamyl carboxylase or the vitamin K epoxide reductase enzyme complex. The diagnosis should be considered when vitamin-K dependent factor activities are decreased and liver dysfunction, vitamin K deficiency, and factitious coumarin ingestion have been excluded. We report a case of VKCFD in a child resulting from compound heterozygosity for two novel splice site mutations of the gamma-glutamyl carboxylase gene. Oral vitamin K supplementation resulted in partial resolution of proteins and complete resolution of bleeding.
Subject(s)
Carbon-Carbon Ligases/deficiency , Carbon-Carbon Ligases/genetics , Coagulation Protein Disorders/congenital , Coagulation Protein Disorders/genetics , Mutation , Vitamin K Deficiency/congenital , Vitamin K/administration & dosage , Blood Coagulation Factors/genetics , Child , Coagulation Protein Disorders/diagnosis , Coagulation Protein Disorders/drug therapy , Diagnosis, Differential , Humans , Male , Mixed Function Oxygenases/genetics , Munchausen Syndrome/diagnosis , Polymorphism, Single Nucleotide , Vitamin K Deficiency/diagnosis , Vitamin K Deficiency/drug therapy , Vitamin K Epoxide ReductasesABSTRACT
Central venous access devices are commonly used in the care of pediatric patients with hemophilia. Bacteremia associated with this type of venous access is common. We describe a patient with severe hemophilia A who had development of septic arthritis and endocarditis secondary to multiple episodes of bacteremia associated with a central venous access device. Endocarditis and septic arthritis in patients with hemophilia are rare infectious complications but should be considered in patients with persistent bacteremia.
Subject(s)
Arthritis, Infectious/etiology , Catheterization, Central Venous/adverse effects , Endocarditis, Bacterial/etiology , Factor VIII/administration & dosage , Hemophilia A/drug therapy , Bacteremia/etiology , Child , Humans , Male , Severity of Illness IndexABSTRACT
Evaluation of two patients with transfusion dependent anemia revealed RBC pyruvate kinase to be 33% and 41% of the mean normal value, with normal or high values of other RBC enzymes. Parental PK activities were just below normal in three of four of the parents. Subsequent DNA analysis revealed both patients to be compound heterozygotes for PKLR gene mutations, two of which are previously undescribed. Borderline low pyruvate kinase activities with increased in other RBC enzyme activities should prompt consideration of measurement of parental enzyme activities, and confirmation by DNA analysis if available.
Subject(s)
Anemia/enzymology , Erythrocytes/enzymology , Pyruvate Kinase/deficiency , Pyruvate Kinase/genetics , Anemia/genetics , DNA/genetics , Female , Heterozygote , Humans , Infant , Male , Polymerase Chain ReactionABSTRACT
We report on an infant with severe asphyxia and persistent pulmonary hypertension as a newborn. The baby received prolonged intravenous calcium gluconate therapy for hypocalcemia. At 5 weeks of age, multiple firm, indurated areas (armor-like lesions) were palpable in the subcutaneous tissues of the trunk, arms, legs, and face, particularly in skin folds. Roentgenographic study showed generalized soft-tissue calcifications throughout the body, extremities, and face. Calcinosis cutis occurs through a variety of pathogenetic mechanisms. Case reports on calcinosis cutis in infants are uncommon, and the calcifications are mostly localized. In our patient, they are generalized.