Diagnosis and management of autoimmune hemolytic anemia in children.

BACKGROUND AND AIM: The aim of this study is to evaluate the clinical, biological and hematological profiles of autoimmune hemolytic anemia (AIHA) in children and to specify its etiologies, therapeutic modalities, and treatment responses. METHODS: This is a 14-year retrospective study of AIHA cases collected at the department of pediatric emergency and reanimation of Hedi Chaker University Hospital in Sfax. We included patients under 14 years old with clinical and biological features of hemolysis and a positive direct antiglobulin test (DAT). The selected patients' demographic characteristics, physical signs, laboratory findings, and treatment responses were recorded. RESULTS: Thirteen cases of AIHA were collected, including 8 girls and 5 boys. The median age at diagnosis was 4 years and 6 months (range: 8 months to 13 years). Consanguinity was reported in 6 cases and 4 patients had a previous infection history. The onset of AIHA was progressive in 9 cases, marked by an anemic syndrome and hemolysis symptoms in 6 and 8 cases, respectively. The clinical triad (pallor, jaundice and splenomegaly) was found in only 4 cases. At the time of diagnosis, the median hemoglobin (Hb) level was 6g/dL (range: 4.2 to 9.2g/dL), anemia was non-regenerative in 2 patients. Thrombocytopenia and neutropenia were noted in 5 and 1 patient, respectively. Peripheral smear examination showed spherocytosis in 2 cases. All the patients had a positive DAT. Of these, 10 were positive with IgG and 3 with both IgG and C3d. AIHA was secondary to other conditions in 9 patients: infection (3 cases), autoimmune disease (4 cases), and immunodeficiency (2 cases). All the patients received first-line corticosteroid therapy but only 8 of them required blood transfusions due to severe anemia. Complete remission was obtained in 7 cases. Corticosteroid resistance and dependence were noted in 1 and 2 cases, respectively. During evolution, additional therapy was indicated in 4 patients and it included cyclosporine A, azathioprine, and mycophenolate mofetil (MMF). After a median follow-up of 4.5 years, the cure rate was 80% and only 1 patient (a boy) died due to his underlying pathology. CONCLUSION: Our study highlights the rarity, severity, and heterogeneity of etiological contexts of AIHA in children. The therapeutic difficulties justify specific expertise in pediatric hematology.

Ecthyma gangrenosum: A manifestation of community-acquired Pseudomonas aeruginosa septicemia in three infants.

OBJECTIVES: Pseudomonas aeruginosa sepsis usually carries a high mortality rate in immunocompromised children. Ecthyma gangrenosum is a known cutaneous manifestation due mainly to Pseudomonas infection with or without septicemia. We describe clinical, biological, and therapeutic data. PATIENTS AND METHODS: Of those children admitted to the pediatric intensive care unit, three pediatric cases of community-acquired P. aeruginosa septicemia associated with ecthyma gangrenosum were retrospectively reviewed. RESULTS: The three patients were aged 5 months, 9 months, and 1 year. Underlying hypogammaglobulinemia was detected in the oldest patient. Pseudomonas aeruginosa was isolated in all patients in blood and once in cultures of skin lesions and endotracheal aspirate. Two deaths occurred due to septic shock and multisystem organ failure despite numerous aggressive resuscitation attempts. CONCLUSIONS: P. aeruginosa sepsis should be treated as early as possible. Recognition of ecthyma gangrenosum allows early diagnosis and prescription of adequate antibiotic therapy without awaiting blood culture reports.

[Auto-immune hepatitis in chronic granulomatous disease in a 2-year-old girl]. / Hépatite auto-immune associée à une granulomatose septique chronique chez une fille de 2 ans.

BACKGROUND: Chronic granulomatous disease is a rare inherited primary immune deficiency disease characterized by recurrent infection and an increased susceptibility to autoimmunity disorders. We report on the case of a girl with autoimmune hepatitis in chronic granulomatous disease to describe the clinical and biological features and treatment implications for patients with chronic granulomatous disease associated with autoimmune disorders. CASE REPORT: An 18-month-old girl was referred to our department for investigation of hepatomegaly. She was the third child of non-consanguineous parents. Her two elder sisters had died from infectious diseases at an early age. She had elevated liver transaminase levels with a normal gamma globulin concentration. Negative results were found for all autoimmune markers (antinuclear antibody, anti-smooth muscle, anti-liver-kidney microsomal, anti-liver cytosol and anti-soluble liver antigen). Her liver biopsy showed features of interface hepatitis with portal fibrosis. The diagnosis of seronegative autoimmune hepatitis was established. Treatment with corticosteroids and azathioprine led to clinical improvement with normalization of transaminases. Six months after initial presentation, at the age of 2 years, she was readmitted for fever. Staphylococcus aureus bacteremia was identified with multiple foci of infection (skin infection, arthritis of the right elbow, pneumonia, buttock abscess). The immunological workup revealed chronic granulomatous disease. The course was marked by a fatal outcome despite appropriate antibiotics and intensive care. CONCLUSION: Early diagnosis of the association between chronic granulomatous disease and autoimmune disorders allows for appropriate treatments, improves the quality of life for affected patients, and reduces the risk of mortality.

[Crohn's disease or intestinal tuberculosis: a diagnostic challenge]. / Tuberculose intestinale ou maladie de Crohn : un défi diagnostique.

Distinguishing intestinal tuberculosis from Crohn disease is difficult and can result in misdiagnosis, especially when active pulmonary infection is absent. A 13-year-old girl was admitted to our hospital with a 2-month history of watery diarrhea, abdominal pain, and 12-kg weight loss. Based on clinical, radiological, endoscopic, and histological findings, she was initially misdiagnosed as having Crohn disease and treated with glucocorticosteroids, with a poor response after 4 weeks. Intestinal tuberculosis was then suspected. Improvement was observed during the 1st week of antituberculous treatment. The differentiation of intestinal tuberculosis from Crohn disease may be very difficult in some patients. A positive response to antituberculous treatment associated with clinical, endoscopic, and histological features argue in favor of the diagnosis of intestinal tuberculosis.

[Serratia marcescens osteomyelitis as the first manifestation of chronic granulomatous disease]. / Granulomatose septique chronique révélée par une ostéomyélite à Serratia marcescens.

Chronic granulomatous disease is a rare, primary immunodeficiency disorder characterized by a defect in oxidative metabolism in phagocytes and recurrent bacterial and fungal infections. We report a case in a 2-month-old infant admitted with metacarpic osteomyelitis due to Serratia marcescens. Chronic granulomatous disease is rare but must be considered in cases of uncommon or atypical infection.

[Septic cavernous sinus thrombosis following ethmoiditis: a case report]. / Thrombose du sinus caverneux compliquant une ethmoïdite aiguë

Acute ethmoiditis is a rare infection of ethmoidal cells. The pathognomonic sign is an edema of the internal corner of the eye. Imaging may be necessary to verify the absence of orbital or endocranial complications. Thrombophlebitis of the cavernous sinus is a serious complication of this infectious process. We report the case of an 11-year-old boy who presented with ethmoiditis complicated with thrombophlebitis of the cavernous sinus, with right hemiplegia and left Bell palsy sequelae. Early diagnosis of this disorder and urgent therapy are essential. Treatment is based on the antibiotic therapy.

Type 2 autoimmune hepatitis overlapping with primary sclerosing cholangitis in a 10-year-old boy.

BACKGROUND: Overlap syndrome of autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC) is considered when the patient presents with the diagnostic criteria of both diseases at some stage of the medical history, either simultaneously or consecutively. AIM: To report on a new case of overlap syndrome and describe the clinical presentation, progression, radiological studies, histological characteristics, and therapeutic options of this rare association. CASE REPORT: A 10-year-old boy presented with jaundice and hepatosplenomegaly. Levels of plasma aminotransferases, gamma-glutamyl transferase, serum alkaline phosphatase and gammaglobulins were elevated. Anti-liver cytosol and perinuclear antineutrophilic cytoplasmic antibodies were positive. Liver biopsy showed features of interface hepatitis with ductopenia. Magnetic resonance cholangiography revealed bile duct stenosis and dilations. Serological findings associated with radiological and histological features confirmed the diagnosis of overlap syndrome of AIH with PSC. Treatment with prednisone, azathioprine, and ursodeoxycholic acid led to a good response. CONCLUSION: The possibility of AIH-PSC overlap syndrome should be considered in all children with AIH and, with clinical, biochemical, or histological signs of PSC, complementary investigations should be done to confirm the diagnosis so as to urgently initiate appropriate treatment with immunosuppressive medication and ursodeoxycholic acid.

[Atypical hemolytic and uremic syndrome associated with von Willebrand factor-cleaving protease (ADAMTS 13) deficiency in children]. / Syndrome hémolytique et urémique atypique et déficit en ADAMTS 13.

Hemolytic and uremic syndrome (HUS) is a classical form of thrombotic microangiopathies characterized by the association of hemolytic anemia with schizocytes, thrombocytopenia, and acute renal failure. Two forms of HUS have been described: the typical form that occurs after ingestion of a strain of bacteria, usually Escherichia coli types, which expresses verotoxin (also called shiga-like toxin), typically followed by bloody diarrhea, and atypical HUS, which is rare during childhood and can also be revealed by bloody diarrhea. We report a case of a 25-month-old infant who presented with hematuria and pallor after an episode of diarrhea. Biological tests revealed anemia, thrombocytopenia, and renal failure. The diagnosis of typical HUS was made, but the causal microorganism was not identified. Progression was favorable within 5 days of plasma transfusions. Two months later, the patient presented with the same symptoms and neurological impairment without any diarrhea. Von Willebrand factor-cleaving protease activity (ADAMTS 13) was low. Therefore, the diagnosis of atypical HUS by severe deficiency of ADAMTS 13 was suggested. The treatment was based on plasma transfusions resulting in remission. Atypical HUS associated with severe ADAMTS 13 deficiency rarely occurs in childhood. The prognosis, usually threatening, has been completely transformed thanks to a better understanding of the pathogenesis and to therapeutic progress.

[Congenital rubella still exists in Tunisia!]. / La rubéole congénitale existe encore en Tunisie !

Congenital rubella syndrome resulting from maternal rubella infection can cause serious multisystemic malformations resulting in severe morbidity and mortality. After immunization, its incidence has been reduced in the developed world, though it remains a real problem in developing countries since it causes many handicaps. In Tunisia, despite including rubella immunization in the routine national program on immunization for girls once they reach the age of 12, the congenital rubella syndrome still exists. We describe the clinical pattern and the outcome of congenital rubella syndrome in 2 infants and emphasize the necessity of recommending universal screening and follow-up vaccination of susceptible females and including rubella immunization in the routine national immunization program, especially in developing countries.

[Thymoma in children: a report of one case]. / Le thymome de l'enfant : à propos d'un cas.

BACKGROUND: Thymoma is an uncommon tumor of childhood. It is an anterior mediastinal tumor with few symptoms. The pleura is the most frequent metastatic site. Surgery is the treatment of choice and the most important prognostic factors are the stage at initial presentation and whether complete resection can be performed. CASE REPORT: A 6-year-old girl with no pathological antecedent presented with a history of prolonged fever. Frontal chest radiography showed a large mediastinal soft tissue mass with sharp lateral and inferior margins. Computed tomography showed a large anterosuperior and medium mediastinal mass measuring 83 mm × 70 mm, associated with variable size mediastinal adenopathy, suggesting the diagnosis of lymphoma. Histological examination of bone marrow biopsy found no haematological malignant diseases such as lymphoma. The histological examination of computed tomography (CT)-guided transthoracic biopsy demonstrated proliferation of polyclonal lymphocyte T cells, confirming the diagnosis of thymoma. The patient benefited from induction chemotherapy (cisplatin and VP16) followed by surgery with complete resection. The patient is doing well 24 months after resection and has no signs of recurrence; CT follow-up showed a stable size of residual thymus. CONCLUSION: Thymoma is a benign tumor but the significant risk of recurrence warrants long follow-up.

[Cholelithiasis associated with portal cavernoma in children: 2 case reports]. / Association lithiase vésiculaire et cavernome porte chez l'enfant : à propos de 2 observations.

The association of cholelithiasis and portal cavernoma is rarely described in adult or pediatric patients. We report 2 cases of gallstone associated with portal cavernoma in 2 girls. The first one suffered from Evans syndrome associated with congenital immune deficiency. The portal cavernoma was discovered with gallstone after splenectomy indicated because of high steroid dependence. In the second case, the cavernoma complicated neonatal umbilical catheterism. The gallstone was asymptomatic and discovered on annual ultrasonography. Septicemia, profound thrombocytopenia, and acute anaemia led to rapid death in the first case. However, the progression was favourable under celioscopic treatment in the second one. Our original observations suggest systematically searching for gallstone in children with portal cavernoma.