Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome

Introduction:

Idiopathic Pulmonary Hemosiderosis (IPH) is a rare cause of alveolar hemorrhage, which is seen primarily in childhood. Celiac disease is defined as a chronic, immune-mediated enteropathy of the small intestine, caused by exposure to dietary gluten in genetically pre-disposed individuals. Association of IPH and celiac disease is known as Lane Hamilton syndrome. There are limited number of case reports of this syndrome in literature.

Case Presentation:

Although there were no growth and developmental delay and gastrointestinal symptoms like chronic diarrhea, chronic constipation, vomiting, abdominal bloating and pain in the two patients with IPH, they were diagnosed with Lane Hamilton Syndrome. After initiation of gluten-free diet, their IPH symptoms disappeared and hemoglobin levels were observed to return to normal.

Conclusions:

Even if there were no gastrointestinal symptoms in a patient with IPH, celiac disease should be investigated. These patients may benefit from gluten free diet and IPH symptoms may disappear.     

Pulmonary vein stenosis mimicking chronic lung disease

The presence of recurrent respiratory symptoms and right heart enlargement in an ex-premature infant is suggestive of chronic lung disease. Pulmonary vein stenosis is a rare, progressive disorder that produces similar symptoms and signs. A case is reported in which pulmonary vein stenosis was revealed by Doppler echocardiography, and this application is recommended in similar cases. Pulmonary vein stenosis is an extremely rare and progressive disorder, which, if left untreated, is usually fatal. The possibility of this diagnosis may not be considered during clinical examination and may be overlooked during routine echocardiography.

Conclusion: This report describes a patient with pulmonary vein stenosis in whom the diagnosis was delayed as she had symptoms and signs more commonly associated with chronic lung disease.     

Paroxysmal nocturnal hemoglobinuria and aplastic anemia

The case of a 14 year-old adolescent girl presenting with paroxysmal nocturnal hemoglobinuria (PNH) associated with aplastic anemia is reported. This disease, rare in children, is characterized by an acquired hemolytic anemia, with abnormal sensitivity to complement: PNH actually affects the bone marrow stem cell. This explains its possible association with any type of malignant blood disease and with aplastic anemia. When aplastic anemia is the first sign of the disease, diagnosis is delayed, due to the possible negative response of the specific Ham's test. Therefore, the proper complications of PNH, especially thromboses, may be misappreciated and poorly managed.     

Cutis laxa associated to cardiac failure

OBJECTIVE: To focus attention on a rare pathology of the childhood which presents premature aging of the skin and can be lethal. METHODS: The authors present a case of cutis laxa, syndrome of premature aging, in an eight year-old child, and discuss the classification, diagnosis and prognosis of the disease. RESULTS: The child presented signs of premature aging when he was four years-old. The diagnosis of cutis laxa was confirmed by skin biopsy. The patient presented heart failure, a systemic complication different from those previously described, and died at eight years of age. CONCLUSIONS: The importance of the diagnosis of cutis laxa resides in the fact that besides characteristic dermatological findings, there are frequent systemic complications that can be the focus of preventive measures, since there is no specific treatment for this disease. Genetic counseling is another important issue in this condition.     

Hypersensitivity pneumopathies ("bird fancier's lung") in children. Diagnostic value of bronchoalveolar lavage

A current view of "pigeon fancier's lung" in children is reported through a familial case presenting as a severe denutrition in a 9 year-old boy. Cellular and biochemical analysis of broncho-alveolar lavage fluid is essential to proper diagnosis. Treatment is based upon the eviction of inhaled antigenic organic materials issued from pigeon's droppings, corticosteroid treatment being only additional. Pulmonary fibrosis is a rare but possible complication in the outcome of the disease.     

Pulmonary function testing in children with cardiac disease

These cases illustrate the clinical importance of pulmonary function testing in children. The first case demonstrated a significant restrictive defect in a child with pulmonic stenosis and scoliosis. Although this child had no respiratory symptoms, it was important to document the degree of functional impairment to plan for her postoperative course. The second case demonstrated the way in which pulmonary function tests can lead to a specific diagnosis and provide important information about response to therapy. This patient had distressing symptoms which limited her ability to participate in sports. Her chest x-ray revealed no significant abnormality and she had no auscultatory finding. Pulmonary function tests defined both the nature and severity of her problems and provided objective information about her response to therapy. In the third case, one might have anticipated decreases in flow rates and lung volumes because of neuromuscular weakness. That was not evident on testing and the patient had an uneventful postoperative recovery. Pulmonary function testing provides invaluable information about the nature and severity of functional impairment in children with known or suspected pulmonary disease. New equipment and individuals specifically trained to work with children now permit the evaluation of even young children. Pulmonary function testing can expand our knowledge of disease processes and improve our therapeutic strategies.     

Pulmonary hemosiderosis with juvenile rheumatoid arthritis: a case report

Pulmonary hemosiderosis may rarely be associated with juvenile rheumatoid arthritis or can develop during the course of the disease. We present a three-year-old boy with severe iron deficiency anemia (without any pulmonary symptoms) and arthralgia at the time of diagnosis. Two years after the initial diagnosis he developed pulmonary hemosiderosis and pauciarticular type of juvenile rheumatoid arthritis which progressed to seronegative polyarticular juvenile rheumatoid arthritis. He responded very well to prednisolone and was maintained well on low-dose alternate-day prednisolone and naproxen sodium treatment. This is the only case of association of these two diseases in our experience in both the Pediatric Rheumatology and Pediatric Respiratory Diseases Departments.     

Transient pancytopenia induced by parvovirus B19 in a child with hereditary spherocytosis

OBJECTIVE: To describe the occurrence of transient pancytopenia induced by parvovirus B19 infection in a patient with hereditary hemolytic anemia and to discuss the importance of the diagnosis of this pathology.METHODS: Case report of a child whose diagnosis was made by polymerase chain reaction (PCR) and serology, and review of the literature.CLINICAL REPORT: A twelve year-old male patient with hereditary spherocytosis, presenting non-specific symptoms of an infectious syndrome followed by severe and transient pancytopenia, whose diagnosis was a parvovirus B19 infection.CONCLUSION: The diagnosis of parvovirus infection has a particular importance in hematology, especially on some morbid conditions, among them the hereditary hemolytic anemias. PCR is useful because of its rapidness and sensitivity on the specific diagnosis of this disease.     

Glucose-6-phosphate dehydrogenase deficiency with recurrent infections: case report

OBJECTIVE: To report a case of rare neutrophil functional disorder with clinical and laboratory findings similar to those of chronic granulomatous disease. METHODS: Patient with extremely reduced level of glucose-6-phosphate dehydrogenase and recurrent infections that improved after continuous use of cotrimoxazole. The patient presented leukocytes with defective respiratory burst, similar to what occurs in chronic granulomatous disease. COMMENTS: The diagnosis of glucose-6-phosphate dehydrogenase deficiency in neutrophils should be considered in any patient with hemolytic anemia whose level of G6PD is extremely low or in any patient that presents recurrent infections as differential diagnosis of chronic granulomatous disease.     

Severe acute White-Spirit poisoning with pulmonary hypertension]

The Authors report a case of acute White-Spirit poisoning with pulmonary hypertension associated to respiratory distress syndrome. CASE REPORT: A 14-month-old infant drank an unknown quantity of White-Spirit while his parents were painting. After he spontaneously vomited, he presented a seizure at the emergency department. After a 36 h stay in Pediatric Intensive Care Unit (PICU), acute lung injury required mechanical ventilation and vasoactive support. Cardiac ultrasounds showed pulmonary hypertension, which rapidly resolved with inhaled nitric oxide. The child was discharged of PICU after five days. Respiratory follow-up two months after poisoning was normal. CONCLUSION: Pulmonary hypertension should be checked for in case of White-Spirit ingestion complicated with severe acute lung injury.     

Hypertrophic pulmonary osteo-arthropathy revealed by a pulmonary epithelioid hemangioendothelioma in a 15-year-old girl]

Pulmonary epithelioid hemangioendothelioma is a rare vascular tumor of the lung, that may be revealed by hypertrophic pulmonary osteo-arthropathy. CASE REPORT: A 15-year-old patient was admitted because of a 1-month history of pneumonia associated with clubbing. A hypertrophic pulmonary osteo-arthropathy due to a paraneoplastic syndrome associated with lung epithelioid hemangioendothelioma was diagnosed. Despite surgical resection and chemotherapy, the patient died 6 months later. COMMENTS: Hypertrophic pulmonary osteo-arthropathy is a rare syndrome in childhood, and is frequently associated with chronic respiratory failure. Diagnosis is confirmed by long bones proliferative periostitis on standard X-ray examination. Pulmonary epithelioid hemangioendothelioma is a rare vascular malignant tumor, that spreads from the vascular pulmonary or hepatic tissues. The prognosis is variable, depending on the malignancy of the tumor. In the absence of a chronic cardiorespiratory disease, the diagnosis of a pulmonary hypertrophic osteo-arthropathy in childhood should prompt the search for a tumoral cause.     

PSEUDOMONAS CEPACIA PNEUMONIA IN A CHILD WITH CHRONIC GRANULOMATOUS DISEASE AND SELECTIVE IgA DEFICIENCY

Abstract. A 6 1/2 year-old boy with chronic granulomatous disease (CGD) and selective IgA deficiency developed a chronic progressive pneumonia which failed to respond to several conventional combinations of antimicrobial therapy. On lung biopsy, Pseudomonas cepacia was obtained in pure culture, sensitive to chloramphenicol, tetracycline, kanamycin and nalidixic acid. With specific therapy, he slowly recovered. P. cepacia has not been previously described as a cause of persistent pneumonia in immunodeficient children. The occurrence of CGD and selective IgA deficiency together is a very rare combination of immunodeficiencies.     

Autoimmune hemolytic anemia associated with a mature ovarian teratoma]

The association of autoimmune hemolytic anemia and mature teratoma of the ovary is rare, particularly in childhood, but must be known and looked for since the treatment of teratoma allows to cure anemia as well. CASE REPORT: A 9 year-old girl was admitted for hemolytic anemia. The etiologic work-up revealed an autoimmune mechanism (IgG autoantibodies with complement), as well as an ovarian tumor after ultrasound sonography of the abdomen and pelvis. Surgical excision of the tumor was complete and uncomplicated. Pathological examination concluded to a mature teratoma. Anemia, as well as the signs of autoimmunity, disappeared a few weeks later and the child is doing well with several months of follow-up. CONCLUSION: This second reported pediatric case shows that an ovarian teratoma should be searched for with ultrasound sonography in any girl presenting with autoimmune hemolytic anemia, since surgical excision is sufficient to cure both anemia and the tumor.     

Chronic arthritis in a child with primary agammaglobulinemia

OBJECTIVES: To report a case of a child with Bruton's disease and the unusual association with chronic aseptic arthritis resembling juvenile rheumatoid arthritis. METHODS: A 16 month-old boy was seen at the Pediatric Rheumatology unit of HC-UFG and Hospital da Crian?a (Goiania- GO). The authors evaluated relevant clinical and laboratorial features, including follow-up and response to therapy. The data were then compared to previous reports published in the world literature based on a Medline search of the subject. RESULTS: Since the age of 6 months, the patient had recurrent episodes of infection that responded poorly to antibiotics. Forty days before admission, he had onset of arthritis in his left knee. The diagnosis of Bruton's disease was based on the seric levels of immunoglobulins and the response to intravenous gammaglobulin infusions. Besides improvement with this therapy, clinical characteristics and other indirect laboratorial tests highly suggested the diagnosis of chronic, aseptic arthritis. CONCLUSION: We present a case of a rare association between Bruton's disease and chronic, aseptic arthritis, very similar to juvenile rheumatoid arthritis. Early recognition of this rare aseptic articular involvement is important for early and efficient therapy with intravenous gammaglobulin infusions, avoiding unnecessary hospital admissions and inappropriate use of antibiotics.     

Multiple unusual lung etiologies in a child with acute lymphocytic leukemia

Granulomatous lung disease is a rare and perplexing differential in pediatrics. Pulmonary Cryptococcus falls into the differential but is not high on the list, particularly in a non‐AIDS patient. Methotrexate (MTX) is a commonly used agent for chemotherapy in oncology and has been documented to cause lung injury in both patients with rheumatologic and oncologic diseases. Our patient had chronic cough and then developed an opportunistic infection resulting in respiratory failure. Lung biopsy showed two underlying unusual diagnoses: MTX lung injury and cryptococcal pneumonia. His case is presented with particular attention to his prolonged road to diagnosis.     

Pulmonary aspergillosis and chronic septic granulomatosis]

Two children with chronic granulomatous disease who developed diffuse pulmonary aspergillosis are described. The outcome was satisfactory in one case with miliary disease because the diagnosis was made early by an open lung biopsy. In the other case the diagnosis was delayed and the child died after 7 months with disseminated haematogenous spread of the fungal infection. Although most of the infections of chronic granulomatous disease are bacterial, the abnormalities of phagocyte killing will also predispose to fungal infections. The prolonged survival of affected children because of antibiotic therapy will increase the risk of parasitic and fungal infections.     

Idiopathic pulmonary hemosiderosis: a rare cause of iron-deficiency anemia in childhood

Idiopathic pulmonary hemosiderosis is a chronic, rare disorder confined to the lung, which is commonly characterized by the triad of recurrent hemoptysis, diffuse parenchyma infiltrates on chest radiography, and iron-deficiency anemia. Diagnosis may be difficult and the clinical course may be widely variable. Here, we describe an 8-year-old boy whose isolated symptom on presentation was iron-deficiency anemia. Presence of hemoptysis and bilateral alveolar infiltrates on chest x-ray led to the diagnosis of pulmonary hemosiderosis, subsequently confirmed by the finding of hemosiderin-laden macrophages by bronchoalveolar lavage. The patient was started on prednisolone 2 mg/kg/d and no further bleeding episodes were noted after the onset of therapy.     

Decade long unexplained anemia: Alert to ANCA associated vasculitis

A 13-year old girl presented with a decade long anemia, diffuse alveolar hemorrhage and interstistial lung disease; was eventually diagnosed as ANCA associated vasculitis. High index of suspicion is thus warranted for alternative diagnosis in chronic anemia, despite increased prevalence of infectious diseases and nutritional anemia.     

Severe encephalopathy associated with reactivated human herpesvirus 6 in a six year-old immunocompetent child

When a six year-old immunocompetent child affected by encephalitis was subjected to virological studies, human herpesvirus 6 variant B2 resulted to be the cause of illness. Laboratory diagnosis based on the finding of human herpesvirus 6 genome in the cerebrospinal fluid of the patient both at the beginning of the disease and on the occasion of a relapse which occurred forty days after the patient's hospital discharge. The presence of high-avidity IgG to human herpesvirus 6 detected in the patient's serum at the time of the first hospital admission proved that he had suffered from a past infection by human herpesvirus 6. In the consequence of this, the human herpesvirus 6 DNA finding in the patient's cerebrospinal fluid was to ascribed to virus reactivation. In the light of virological and serological results, the clinical case described underlines the ability of human herpesvirus 6 to cause neurological disorders not only during primary infections but also during infections supported by rescued virus.