Metanephric adenoma diagnosed on biopsy in an infant: a case report.

BACKGROUND: Metanephric adenoma is a rare benign renal tumor of the kidney, uncommonly observed in children. It is often misdiagnosed preoperatively as a malignant neoplasm, leading to an unnecessary nephrectomy. The challenge is to make the right diagnosis preoperatively and therefore manage it with conservative surgery. We report a case of a child with metanephric adenoma who underwent nephron-sparing surgery. CASE PRESENTATION: A renal tumor was discovered fortuitously in an 18-month-old Caucasian girl with several congenital malformations. Investigations showed a 28 × 27 × 27 mm left renal mass centrally located, well defined, nonvascularized, with no calcifications and which compressed the adjacent renal tissue. Furthermore, there were no signs of metastasis. The decision of a multidisciplinary meeting was to perform a computed tomography (CT)-scan-guided biopsy. Histologic examination concluded it was a metanephric adenoma. We performed a left open partial nephrectomy via a flank retroperitoneal incision. The final histopathological examination confirmed the diagnosis. The postoperative course was uneventful. CONCLUSION: Preoperative diagnosis of metanephric adenoma is challenging. Because of the high probability of unnecessary radical nephrectomy, preoperative biopsy can be safe and determining to guide a more conservative approach so nephron-sparing surgery can be performed.

[Rendu-Osler disease and recurrent thromboembolic venous disease]. / Maladie de Rendu-Osler et maladie veineuse thromboembolique récidivante.

Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Venous thromboembolic disease is a poor prognostic factor in this disease given the risk of increased bleeding caused by anticoagulant therapy. We report a new case of a 56-year-old patient with Osler disease who developed recurrent thromboembolic venous disease when anticoagulants were discontinued. According to a review of the literature, this association does not appear to be fortuitous and is a factor of disease severity.

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.

Value of troponin levels in the diagnosis of cardiac dysfunction in moderate scorpion envenomation.

CONTEXT: Cardiac dysfunction is one of the most serious consequences of scorpion envenomation. The best tool to evaluate cardiac function is echocardiography, but it is not available at all emergency departments. Many studies aimed to describe biological predictive factors of cardiac dysfunction in scorpion envenomation. Troponin is one of these biomarkers but its correlation with myocarditis is not well established. The aim of this study was to evaluate correlation between troponin levels and cardiac dysfunction in moderate scorpion envenomation. METHODS: A retrospective monocentric study including patients admitted in the emergency department for moderate scorpion envenomation with troponin measurement during their early management. On arrival, an electrocardiogram and a chest X-ray were realized for all patients. RESULTS: We enrolled 132 patients with a mean age at 31.3 ± 24.4 years and a 1.35 sex-ratio. All patients had moderate systemic manifestations. There were 28 patients with clinical manifestations of cardiac dysfunction without life-threatening troubles (21.2%). Troponin was undetectable in 69 patients (56%). The mean value of troponin level (pg/ml) was higher in patients with clinical manifestations of left ventricular dysfunction (1.80 ± 3.8 vs. 0.11 ± 0.5; p = 0.02). Troponin levels were significantly higher in patients with positive T wave on electrocardiogram. CONCLUSION: In patients with moderate scorpion envenomation with positive T wave, high values of troponin suggest the presence of cardiac dysfunction.

What could be the reasons of late diagnosis of breast cancer in Tunisia?

INTRODUCTION: Breast cancer is often diagnosed at a late stage in Tunisia with long delay in time to consultation and to diagnosis. The aim of the study was to identify explanatory factors to delayed diagnosis. METHODS: A case control analytical was performed from January 2013 to December 2014 in the department of Medical Oncology in FarhatHachedUniveristy Hospital.Patients with the diagnosis of ductal breast carcinoma were included in the study.Characteristics of a first group of 200 women with locally advanced or metastatic breast cancer (G1)were compared to a second group of 200 patients with early stage (G2). RESULTS: Median delay in consultation and mean tumor size were significantly more important in group G1 (p<0,001).A low level of schooling, a rural origin, poor socio-economic conditions and no encouragement by the patient relatives do not allow an early diagnosis.Misinterpretation of clinical breast signs was the only explanatory factor related to the system. In multivariate study, a low level of schooling(adjusted OR=2.72; CI 95% [1,65-4,49]), no encouragement by the patient's relatives(adjusted OR=7.86; CI 95% [4,24-14,57])and more than three dependants(adjusted OR=2.49; CI 95% [1,58-3,93]) were the independent factors that could explain the delay in diagnosis. CONCLUSION: Our study confirm the inverse relationship between socio-economic and scholar level and disease stage. Health education campaigns particularly among women with a low schooling level and of rural origin could reduce time for consultation. Promoting continuing medical education could avoid diagnostic errors.

Severe scorpion envenomation: pathophysiology and the role of inflammation in multiple organ failure.

Scorpion stings occur on every continent except Antarctica. The correlation between young age and severity of clinical manifestations after this envenomation is well-established. Several studies have emphasized the relevance of pro-inflammatory mediators in the pathophysiological manifestations of human scorpion envenomation. Moreover, there is a significant association between pro-inflammatory cytokine levels in the blood and the severity of scorpion envenomation. Release of these cytokines increases the severity of the visceral damage induced by the direct action of the venom and the activation of both the sympathetic and parasympathetic nervous systems.

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.

Macrophagic activation syndrome related to an infection by Rickettsia conorii in a child.

Since the Arab Spring, a resurgence of zoonotic diseases such as rickettsiosis, endemic in the Mediterranean basin, has been observed. It preferentially infects microvascular endothelial cells of mammalian hosts inducing vasculitis with endothelial injury. Rickettsioses are considered benign infectious diseases. Severe systemic manifestations have been reported and are often explained by a delay in diagnosis. We present a case of hemophagocytic syndrome occurring in a 4-year-old Libyan girl as a complication of Mediterranean spotted fever. Rickettsial infection was confirmed by serology and the patient was treated with clarithromycin, with a favorable outcome.

Chylomicron retention disease: A rare cause of chronic diarrhea.

Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.

[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.

Comorbidity in the Tunisian population.

Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic disease association referred to as comorbidity and discuss factors influencing their expressivity. Seventy-five disease associations have been reported among Tunisian families. This comorbidity could be individual or familial. In 39 comorbid associations, consanguinity was noted. Twenty-one founder and 11 private mutations are the cause of 34 primary diseases and 13 of associated diseases. As the information dealing with this phenomenon is fragmented, we proposed to centralize it in this report in order to draw both clinicians' and researcher's attention on the occurrence of such disease associations in inbred populations as it makes genetic counseling and prenatal diagnosis challenging even when mutations are known.

Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review.

Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities.

Vertebral metastases from intracranial meningioma.

Meningioma rarely gives rise to metastases outside the brain and meninges. We report here a case of a patient who was treated for anaplastic brain meningioma with surgery and fractionated radiation therapy without any recurrence until 5 years after the operation, when she developed vertebral metastases.

[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.

Growing Teratoma Syndrome After Treatment of a Nonseminomatous Germ Cell Tumor: A Case Report and a Review of Literature.

Growing teratoma syndrome is a rare condition among patients with nonseminomatous germ cell tumors who present with enlarging metastatic masses during appropriate systemic chemotherapy and normalized serum markers. Retroperitoneal residual masses are a common finding after chemotherapy for the nonseminomatous tumors of the testis. These might contain mature teratoma, fibrotic tissue, or tumor. Mature teratoma, which is unresponsive to chemotherapy, might result from evolution of a malignant lesion during treatment or it might represent a metastasis from a focus of mature teratoma in the primary testicular tumor. This article reviews a case of a growing teratoma syndrome.

[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.

[Hepatopulmonary syndrome: a complication of type 1 Gaucher disease]. / Syndrome hépatopulmonaire: une complication de la maladie de Gaucher de type 1.

Gaucher's disease is a not exceptional lysosomial disease in Tunisia. Type 1 is by far the most common one. Pulmonary involvement is considered to be rare in type 1 Gaucher's disease. Pulmonary hypertension, infiltration of the lungs with Gaucher cells, and severe hypoxemia due to intrapulmonary arterial-venous shunts, have been described in case reports and small case series. We reported the case of hepatopulmonary syndrome in a 14-year-old boy with type 1 Gaucher disease. The diagnosis of Gaucher disease was established, at 2 years age, by enzyme assay of leucocyte ß-glucosidase. The patient presented dyspnoea, digital clubbing and cyanosis of the lips. The arterial blood gas found severe hypoxaemia with PaO(2) at 56.9 mmHg. The diagnosis of hepatopulmonary syndrome, in our patient, was confirmed by demonstration of the intrapulmonary shunting using contrast-enhanced echocardiography and the technetium-99m-labeled macroaggregated albumin. The patient was treated by symptomatic measure, long term oxygen therapy because the insufficiency of the enzyme replacement therapy. Screening for hypoxemia in children with liver disease should be considered.