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.

Fulminant mulch pneumonitis in a previously healthy child.

Chronic granulomatous disease (CGD) is associated with multiple and recurrent infections. In patients with CGD, invasive pulmonary infection with aspergillus species remains the greatest cause of mortality. Acute fulminant presentations of fungal pneumonia are catastrophic. It is a medical emergency, and currently the treatment is based on association of corticosteroids and antifungal therapy. We describe the case of an 11-year-old boy, with late initial presentation of CGD, which was revealed by fulminant aspergillus pneumonia. He was successfully treated with an association of high doses of steroids and voriconazole.

Adverse Reactions Due to the Bacillus Calmette-Guerin Vaccine: Twenty Tunisian Cases.

BACKGROUND: Bacillus Calmette-Guérin (BCG) vaccine is a widely used vaccine. Management of local BCG complications differs between clinicians, and the optimal approach remains unclear. AIMS: We aim to describe the epidemiological, clinical and therapeutic aspects of the BCG vaccine side effects in Sfax. PATIENTS AND METHODS: This was a retrospective study of all the cases of BCG vaccine adverse reactions recorded in the Dermatology and Paediatrics Departments of Hedi Chaker University Hospital of Sfax over a period of 10 years (2005-2015). RESULTS: Twenty cases of BCG adverse reactions were notified during the study period. Actually, 80% of the patients presented local adverse reactions. The outcome was good in all the followed patients. The rate of disseminated BCG disease was 20%. Biological tests of immunity showed a primary immunodeficiency in three cases, whereas the outcome was fatal in two cases. CONCLUSION: BCG vaccine adverse reactions range from mild to severe. However, the management of benign local reactions remains unclear. Disseminated BCG disease must alert clinicians to the possibility of a primary immunodeficiency.

[Management of patients with major beta thalassemia in a paediatric department in the south of Tunisia: About 26 cases]. / Prise en charge thérapeutique des patients atteints de bêta-thalassémie majeure dans un service de pédiatrie du sud tunisien : à propos de 26 cas.

AIM: Our objectives were to assess the management of patients with major thalassemia and identify the various complications and monitoring means. PATIENTS AND METHODS: A retrospective study was conducted on 26 ß-thalassemic patients in the department of paediatrics, Hédi Chaker hospital, Sfax, Tunisia during a period of 25 years (from 1 January 1990 to 31 December 2014). RESULTS: The mean age of the beginning of transfusion was 11.5 months. That was with phenotyped red blood cells but not leukodepleted blood. Twenty-three patients received chelation. Before 2001, all patients received deferoxamine, poor adherence to this treatment was observed in 66% of cases. It was replaced by deferiprone since 2006 and deferasirox since 2009. A combination of 2 or 3 chelators was indicated for four patients. A total splenectomy was performed in 10 cases patients; it was due to hypersplenism. The bone marrow transplant was performed for one patient at the age of 9 year but it was rejected. Many complications were detected: endocrine complications (19 cases), immune complications (9 cases), gallbladder stones (5 cases), cardiac complications (4 cases), osteoporosis (3 cases), infectious complications (3 cases) and thromboembolic complications (2 cases). We noted some side effects related to chelation therapy in twelve cases. Four patients were dead. CONCLUSION: Improving the medical care of homozygous ß-thalassemic children requires adherence to transfusion regimen and chelation therapy. Bone marrow transplantation remains the only possible curative therapy, which must be promoted in our country.

Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.

Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene.

[Unilateral to bilateral pleurisy: Pleural tuberculosis?]. / Pleurésie à bascule : est-ce une tuberculose ?

Pleural tuberculosis is the first or second most common form of extrapulmonary tuberculosis as well as the main cause of pleural effusion in many countries. It is rare in young infants and is more common in children over 10 years of age. We report the case of a 19-month-old girl admitted for prolonged fever with unilateral pleural effusion. The mother reported a history of lymph node tuberculosis 6 years previously. Intravenous antibiotics with cefotaxime and vancomycin were started. Thoracocentesis yielded a serosanguinous exudate fluid with a lymphocyte predominance. The tuberculin skin test and PCR GeneXpert(©) on pleural fluid were negative. The initial outcome was favorable, but the chest X-rays 10 days after discharge showed bilateral pleural effusion. Pleural biopsy was proposed but the culture of pleural fluid was positive for Mycobacterium tuberculosis. The child was put under standard treatment for tuberculosis. The outcome was favorable.

Occipital dermoid cyst associated with dermal sinus complicated with meningitis: A case report.

BACKGROUND: Occipital dermal sinus, usually associated with dermoid cyst, is a rare entity; it results from the persistence of an abnormal embryonal communication between the skin and the intradural space. Its main complication is intracranial infection. CASE DESCRIPTION: This 2-year-old girl was hospitalized for meningitis. Neuroradiological studies revealed a cystic mass of the posterior fossa communicating with the skin and hydrocephalus. The diagnosis of dermoid cyst associated with dermal sinus was established at surgery. The patient was treated with radical excision of both the occipital cyst and the dermal sinus associated with systemic antibiotic therapy. She had a good outcome. CONCLUSION: Posterior fossa dermoid cyst should be considered in all children with chronic occipital skin lesion, especially a dermal sinus. We emphasize the importance of early neurosurgical treatment of dermoid cysts to prevent the development of severe complications.

Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 2-year-old boy who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis, and identification of pathognomonic giant azurophilic granules in peripheral blood and bone marrow.

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.

[Hereditary hemorrhagic telangiectasia. Report of a pediatric case]. / La maladie de Rendu-Osler-Weber : à propos d'une nouvelle observation pédiatrique.

Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that cause recurrent epistaxis and eventually multiple telangiectasia and arteriovenous visceral malformations. We report the case of a 7-year-old girl who developed severe hypoxemia due to multiple pulmonary arteriovenous malformations.

[An uncommon cause of hematemesis in children: factor XI deficiency]. / Une cause inhabituelle d'hématémèse chez l'enfant : le déficit en facteur XI.

Congenital factor XI deficiency, also called hemophilia C, is a rare coagulation disorder that is particularly common in Ashkenazi Jews. Individuals with factor XI deficiency may or may not have a mild bleeding tendency, which is typically provoked by surgery or trauma. We report the case of a 5.5-year-old girl who presented with abdominal pain, vomiting, and hematemesis. Biological tests showed a prolonged activated partial thromboplastin time (aPTT) of 113 s (control=29 s) caused by a constitutional factor Xl deficiency (2.7%). The progression was spontaneously favorable.

[Neonatal renal candidiasis: a case report]. / Candidose rénale chez le nouveau-né : à propos d'une observation.

UNLABELLED: Neonatal renal candidiasis is an increasingly common condition affecting predominantly premature infants receiving neonatal intensive care or term infants with urogenital tract anomalies. CASE REPORT: a female infant was born by cesarian section at 30 weeks' gestation to a mother whose pregnancy had been complicated by rupture of membranes for 5 days. The infant was admitted at birth, maternofetal bacterial infection was suspected, and intravenous antibiotics were prescribed. The patient developed sepsis caused by Klebsiella pneumoniae at the age of 13 days. She was referred to our hospital at the age of 50 days because of renal abscess. At admission, the baby presented with hypothermia and abdominal distention. Renal ultrasonography findings were compatible with fungal disease. Blood, urine, and cerebrospinal fluid cultures were negative for fungi; however, galactomannan antigen blood levels were increased. Amphotericin B was administered for 6 weeks. End-organ evaluation of the heart, brain, and eyes did not demonstrate disseminated infection. The patient was discharged with a prescription for oral fluconazole and remained well at follow-up.

[Megalencephaly with dystonia revealing Canavan disease]. / Macrocéphalie avec dystonie révélant une maladie de Canavan.

Canavan disease, or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of the brain. The disease results from the accumulation of N-acetyl aspartic acid in the brain, due to aspartoacylase deficiency. We report the case of a 6-month-old girl who presented with megalencephaly, peripheral hypertonia, and a developmental delay noticeable after 4 months of age. Magnetic resonance imaging of the brain with spectroscopy was suggestive of Canavan disease, which was confirmed by chromatography of urinary organic acids.

[Primary distal renal tubular acidosis in children in the South of Tunisia: study of 15 cases]. / L'acidose tubulaire distale primitive de l' enfant : etude de 15 observations.

BACKGROUND: primary distal renal tubular acidosis in children (RTA) is characterized by metabolic acidosis due to defect in urinary excretion of hydrogen (H+) in the distal tubular. AIM: To report the epidemiological, clinical, therapeutic and evolutionary of distal RTA in our patients. PATIENTS AND METHODS: We conducted a retrospective study of all cases of distal RTA collected in the department of pediatrics of Hedi Chaker University hospital in the south of Tunisia, during a period of 23 years (1988-2010). We studied the epidemiological, clinical, biological, evolutionary and therapeutic data. RESULTS: During the study period 15 cases of distal RTA were collected. The average age was 6 months (1 month -2 years). Most common presenting symptoms were vomiting (8cases), failure to thrive (4cases), lack of appetite, polyuria-polydipsia syndrome (1case) and urinary infection (2cases). The clinical examination showed staturoponderal delay (9 cases), dehydration (6 cases), signs of rickets (3 cases) and polyuria (10 cases). Biological data showed high urine pH in the presence of metabolic acidosis in 11 cases, hypokalaemia in 10 cases and hypercalciuria in all cases. Urine acidification test with ammonium chloride was performed in 4 cases, the urinary pH was always higher than 5.5 in all cases. Ammoniuria performed in 9 cases was less than 40mmol/l. Radiological investigation objectified a nephrocalcinosis in fourteen patients and signs of rickets in three cases. Deafness was found in three patients. Genetic study performed in two cases showed mutation of ATP6V1B1 gene. The medical treatment involved an alkali load. Long-term outcome was favorable in 7 cases. CONCLUSION: The distal renal tubular acidosis is a rare pathology in our country but probably under diagnosed. The clinical gravity of this disease and the risk of evolution towards the terminal renal insufficiency justify an antenatal diagnosis to establish a neonatal management or propose a therapeutic interruption of the pregnancy if the distal RTA is associated with a severe pathology.

[Posterior reversible encephalopathy syndrome induced by acute postinfectious glomerulonephritis]. / Syndrome d'encéphalopathie postérieure réversible induit par une glomérulonéphrite aiguë postinfectieuse.

INTRODUCTION: Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological entity characterized by neurologic symptoms in association with usually reversible bilateral posterior hemispheric edema on neuroimaging. It has been described in adults more than in children. Many pathological conditions and treatments have been associated with this syndrome. CASE REPORT: We report the case of an 11-year-old boy who presented with acute postinfectious glomerulonephritis, renal failure, and arterial hypertension. Two days after admission he developed generalized tonic clonic seizures. His blood pressure was 145/90 mmHg. Computed tomography showed hypodense lesions in the occipital and frontal areas. Based on the clinical manifestations and the typical pattern of brain imaging, the diagnosis of PRES was retained. Clinical manifestations and radiological abnormalities resolved after antihypertensive therapy. Axial FLAIR images and diffusion-weighted magnetic resonance images showed a slight hyperintensity signal in the left occipital area. CONCLUSION: Acute postinfectious glomerulonephritis in children should be considered a risk factor for developing PRES.

[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.