PULMONARY HYPERTENSION IN CHILDREN WITH EVANS SYNDROME

Evans syndrome is a rare cause of hemolysis in pediatric patients. The authors describe two severely affected patients who had previously been heavily treated, and who subsequently developed severe pulmonary hypertension. Both patients were successfully managed by a combination of immunosuppression and anti-pulmonary hypertension treatment. The first patient to present, case A, received an allogeneic bone marrow transplant with subsequent cure of both Evans syndrome and pulmonary hypertension and is now on a weaning dose of sildenafil. Case B is being worked up for allogeneic bone marrow transplantation. The authors speculate that the pulmonary hypertension was caused by the underlying immune dysregulation and hemolysis and that Evans syndrome joins the list of other hemolytic anemias that cause pulmonary hypertension, such as sickle cell disease, thalassemia, and paroxysmal nocturnal hemoglobinuria. However, they suggest a vasculitic process as the main cause.     

CHRONIC PULMONARY DISEASE IN A CHILD WITH THE EHLERS-DANLOS SYNDROME

ABSTRACT. The presence of chronic pulmonary disease is an uncommon finding in the Ehlers-Danlos syndrome. The patient discussed herein presented with severe irreversible obstructive pulmonary disease characterized by marked hyperinflation, an increase in static lung compliance, and tracheal dilatation. A largely normal lung biopsy ruled out chronic pulmonary emphysema. Despite the similarity of this patient to those with the Mounier-Kuhn syndrome, the degree of tracheobronchial enlargement was not as great as is usually seen in this disorder although these anatomic changes may develop with time. The findings in this case demonstrate that any site within the tracheobronchial tree may be involved in the Ehlers-Danlos syndrome and further emphasize the need to determine the degree of reversibility of obstructive lung disease in children.     

CHRONIC PULMONARY DISEASE IN A CHILD WITH THE EHLERS-DANLOS SYNDROME

Abstract. The presence of chronic pulmonary disease is an uncommon finding in the Ehlers-Danlos syndrome. The patient discussed herein presented with severe irreversible obstructive pulmonary disease characterized by marked hyperinflation, an increase in static lung compliance, and tracheal dilatation. A largely normal lung biopsy ruled out chronic pulmonary emphysema. Despite the similarity of this patient to those with the Mounier-Kuhn syndrome, the degree of tracheobronchial enlargement was not as great as is usually seen in this disorder although these anatomic changes may develop with time. The findings in this case demonstrate that any site within the tracheobronchial tree may be involved in the Ehlers-Danlos syndrome and further emphasize the need to determine the degree of reversibility of obstructive lung disease in children.     

POLAND SYNDROME WITH INTRACRANIAL GERM CELL TUMOR IN A CHILD

Poland syndrome is an uncommon unilateral deformity of chest wall and upper extremity with variable manifestations. Although numerous case reports of Poland syndrome associated with malignancies have been published, intracranial germ cell tumor in Poland syndrome has not been previously reported. The authors describe a 15-year-old male patient with intracranial germ cell tumor and Poland syndrome.     

ATYPICAL PNEUMOCYSTIS CARINII PNEUMONIA IN A CHILD WITH HYPER-IgM SYNDROME

Children with hyper-immunoglobulin M (hyper-IgM) syndrome are at increased risk for Pneumocystis carinii pneumonia (PCP), an opportunistic infection often found in immunodeficient hosts. PCP can present with increasing hypoxia, fever, cough, and respiratory distress. We describe a child with hyper-IgM syndrome in whom bronchoalveolar washings were negative for PCP. However, there was an atypical lung response in which caseating granulomas predominated. The histopathology, resembling that found in tuberculosis, stresses the importance of a high index of clinical suspicion and histologic confirmation for early intervention and treatment. Immunocompromised children with rapidly progressive pulmonary disease may require lung biopsy and stains such as GMS to identify PCP.     

AMEBIC OSTEOMYELITIS IN A CHILD WITH ACQUIRED IMMUNODEFICIENCY SYNDROME: A Case Report

Disseminated Acanthamoeba infection has been described in immunocompromised or debilitated patients. The usual sites of involvement are skin, sinus, and brain. Sporadic reports of Acanthamoeba infection in patients infected with the human immunodeficiency virus are present in recent literature, predominantly in adults, and one case involving an 8-year-old child. We describe a case of amebic osteomyelitis, seen in a 6-year-old child with vertically acquired human immunodeficiency virus and a 6-month history of cutaneous Acanthamoeba infection.     

RESPONSE TO RITUXIMAB AND PREDNISOLONE FOR OPSOCLONUS-MYOCLONUS-ATAXIA SYNDROME IN A CHILD WITH GANGLIONEUROBLASTOMA

Opsoclonus-myoclonus-ataxia (OMA) syndrome is a rare neurobehavioral paraneoplastic disorder in children with neuroblastic tumors. The neurologic symptoms are generally treated with a number of immunosupressive and immunomodulating agents. A 4-year-old previously healthy male patient was admitted to the authors’ center with progressive ataxia, gait disturbance, diffuculty of speech, and opsoclonus. He had a diagnosis of ganglionueroblastoma at the thoracal paraspinal region. Following surgey, the patient received IVIG and prednisolone but his cerebellar symptoms progressed. Rituximab therapy was started and continued for total 8 weeks without any side effect. The authors observed excellent neurologic response in the patient at the 4th week of treatment. Rituximab is a new, promising, and safe therapy for OMA syndrome in children with neuroblastoma.     

PLATELET RELEASE DEFECT IN A CHILD WITH EHLERS-DANLOS SYNDROME

Nine children with chronic refractory immune thrombocytopenic purpura and moderate to severe episodes of bleeding were treated with Danazol in an attempt to increase their platelet counts and improve clinical hemostasis. Only one patient experienced an excellent response while a good response was obtained in another. Cessation of bleeding episodes was observed in two other children with only marginal increases in platelet counts. Four of the nine patients failed to show any clinical or hematological improvement. The drug was well tolerated but its efficacy in childhood ITP needs further evaluation.     

HYPERTENSION IN A PATIENT WITH ACRODERMATITIS ENTEROPATHICA

ABSTRACT. One patient with acrodermatitis enteropathica complicated by hypertension is presented. The pathogenesis of the markedly elevated blood pressure is unknown. The acrodermatitis healed completely on zinc therapy and parallel to this improvement the hypertension could easily be controlled with a gradually decreased antihypertensive drug dosage.     

WARM AUTOIMMUNE HEMOLYTIC ANEMIA FOLLOWING RECURRENT MYCOPLASMA PNEUMONIA INFECTIONS IN A CHILD WITH DOWN SYNDROME

Mycoplasma pneumonia (MP) is mainly associated with cold agglutinin syndrome, whereas both cold IgM and warm IgG autoantibodies have been identified in only two cases in the literature. The authors present an 8-year-old boy with Down syndrome, who suffered from recurrent episodes of MP infection, followed by episodes of hemolytic anemia with normal titer of cold agglutinins. The first 6 episodes were sequenced by nonimmune hemolytic anemia, whereas the latter 7 episodes were followed by episodes of warm autoimmune hemolytic anemia. This is believed to be the first described case of hemolytic anemia with warm IgG autoantibodies, following MP infection.     

HODGKIN'S DISEASE IN A CHILD WITH SICKLE CELL DISEASE TREATED WITH HYDROXYUREA

Hydroxyurea (HU) is an oral drug that ameliorates the clinical course of sickle cell anemia by &#175 increasing the levels of fetal hemoglobin and decreasing the adhesion of red cells to endothelium. Although HU has minimal short-term toxicity, few data are available about the long-term safety and the potential risk for carcinogenesis or leukemogenesis. An 8-year-old child with sickle cell / &#103 0- thalassemia who received HU treatment for painful crises is described. Six months after the initiation of the HU treatment he developed Hodgkin's disease, lymphocyte predominance subtype. Chemotherapy induced a complete remission. After discontinuation of chemotherapy the painful crises recurred and bone marrow transplantation was decided at the age of 12 years. Two years after the bone marrow transplantation, the child is in complete remission without painful crises. Although the authors suggest that the development of Hodgkin's disease is a coexisting event, questions arise about the safety of HU treatment in childhood.     

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME TREATED WITH DIAPHRAGM PACING

ABSTRACT. Congenital central hypoventilation syndrome was diagnosed in an infant who since birth had shallow respiration and CO₂ retention during sleep, absent ventilatory response to hypercarbia, and no underlying disease or trauma to account for the symptoms. Diaphragm pacing was started at the age of 81/2 months and has been successfully carried out at home, guided by end-tidal CO₂ monitoring. After 22 months of home treatment, at the age of two years 9 months, linear growth and psychomotor development are progressing normally, while previous symptoms of cor pulmonale have not progressed.     

OLFACTORY NEUROBLASTOMA AS A SECOND MALIGNANT NEOPLASM IN A PATIENT PREVIOUSLY TREATED FOR CHILDHOOD ACUTE LEUKEMIA

Various kinds of second malignant neoplasms after successful treatment for childhood acute leukemia have been reported. The authors describe an unusual case of an olfactory neuroblastoma in a patient previously treated for childhood acute leukemia including autologous bone marrow transplantation. The prophylactic cranial irradiation and the total body irradiation during autologous bone marrow transplantation may have induced the development of their patient's olfactory neuroblastoma. Although a second primary olfactory neuroblastoma is rare, it should be added to the list of second malignant neoplasmsin the sinonasal region.     

SUCCESSFUL UNRELATED UMBILICAL CORD BLOOD TRANSPLANTATION IN A CHILD WITH OMENN'S SYNDROME

Omenn's syndrome is a variant of combined immunodeficiency disease (CID). Like other CID forms, it causes death unless the patient receives a bone marrow transplant (BMT). Previous reports have shown that BMTs from unrelated donors in Omenn's syndrome have very poor results, with a high rate of infections during transplantation and graft rejection, when compared with transplants from related donors or patients with other CID. This study discusses the case of a 19-month-old child with Omenn's syndrome, who received an unrelated cord blood stem cell transplant (CBT). Donor and recipient had 1 HLA-Ag mismatched on HLA-B. Symptomatology improved early after CBT. The child achieved leukocytes and platelet engraftment and was discharged on day + 34. His followup has been uneventful and at this time, 27 months after CBT, immune functions have been recovered.     

CLONAL MONOSOMY 7 AND 5q IN A CHILD WITH MYELODYSPLASTIC SYNDROME

The authors report the case of a 5-year-old boy referred for thrombocytopenia and neutropenia. Bone marrow examination showed a myelodysplasia with clonal monosomy7. The acceleration of the disease was marked by the appearance of an additional cytogenetic abnormality, i.e., the deletion of the long arm of chromosome 5 in the clonal cells. RAS genemutationwas not detected. Chemotherapy was started to achieve complete remission before a bone marrow transplatation. This treatment was complicated by a prolonged a plasia and the patient died of systemic mycotic infection.     

SUCCESSFUL UNRELATED UMBILICAL CORD BLOOD TRANSPLANTATION IN A CHILD WITH OMENN'S SYNDROME

Omenn's syndrome is a variant of combined immunodeficiency disease (CID). Like other CID forms, it causes death unless the patient receives a bone marrow transplant (BMT). Previous reports have shown that BMTs from unrelated donors in Omenn's syndrome have very poor results, with a high rate of infections during transplantation and graft rejection, when compared with transplants from related donors or patients with other CID. This study discusses the case of a 19-month-old child with Omenn's syndrome, who received an unrelated cord blood stem cell transplant (CBT). Donor and recipient had 1 HLA-Ag mismatched on HLA-B. Symptomatology improved early after CBT. The child achieved leukocytes and platelet engraftment and was discharged on day + 34. His followup has been uneventful and at this time, 27 months after CBT, immune functions have been recovered.     

GOODPASTURE'S SYNDROME IN A CHILD: NATURAL HISTORY AND EFFECT OF TREATMENT

ABSTRACT. Martini, A., Binda, S., Mariani, G., Scotta, M. S. and Ruberto, G. (Department of Pediatrics, University of Pavia, Italy). Goodpasture's syndrome in a child: natural history and effect of treatment. Acta Paediatr Scand, 70:435, 1981.–An 8-year-old girl with microhematuria of recent onset developed a picture of pulmonary hemosiderosis in the space of 2 months. Some months later while pulmonary involvement was improving severe extracapillary glomerulonephritis developed. Circulating anti-glomerular basement membrane antibody was detected and linear deposition of IgG along glomerular basement membrane was observed. A diagnosis of Goodpasture's syndrome was made and treatment was started with prednisone, cyclophosphamide and periodic plasmapheresis with complete progressive disappearance of circulating anti-glomerular basement membrane antibody. After suspension of plasmapheresis despite immunosuppressive therapy and lack of evidence for circulating anti-glomerular basement membrane antibody, the child went into terminal renal failure. The natural history of the disease in this case and the results of treatment are discussed. To our knowledge this is the first case of Goodpasture's syndrome reported in childhood with demonstration of the presence of anti-glomerular basement membrane antibody.     

EFFECT OF SHORT-COURSE,HIGH-DOSE STEROID THERAPY IN A CHILD WITH MYELODYSPLASTIC SYNDROME

High-dose methylprednisolone (HDMP) has been shown to induce differentiation of myeloid leukemic cells with a remarkable antileukemic effect in children with various subtypes of acute myeloblastic leukemia (AML). Here the beneficial effect of short-course HDMP therapy in a child with myelodysplastic syndrome (MDS) is reported. Oral methylprednisolone sodium succinate (Prednol-L) was administered at a single daily dose of 30 mg/kg for 5 days to a 4-year-old girl with refractory anemia with excess of blasts and hypocellular bone marrow before the initiation of chemotherapy. In addition to dramatic clinical improvement, the patient's white blood cell count increased from 2.3 &#50 10 9 /L to 5.0 &#50 10 9 /L, and peripheral blood blast cells disappeared 4 days after HDMP treatment. Repeated bone marrow aspirate 1 week after the initiation of HDMP disclosed increased cellularity with no blasts. Furthermore, short-course HDMP treatment stimulated the increase in the number of peripheral blood lymphocytes and CD3 + , CD4 + , CD8 + , CD19 + , CD34 + , and NK cells. Results obtained with HDMP from the previous studies and the present case suggest that high-dose methylprednisoloneis a promising agent in the treatment of MDS and it is recommended as an initial treatment especially for MDS children with hypocellular bone marrow at presentation.