Unique giant cardiac tumor in an infant: rhabdomyoma or fibroma?

We report a case of giant cardiac tumor diagnosed at fetal life and thought to be a fibroma. Six months later, a marked regression of the tumor size was observed. Diagnosis of rhabdomyoma was retrospectively made. Tuberous sclerosis was then suspected and MRI showed many signs of consistent diagnosis.

Diffuse axonal injury in patients with head injuries: an epidemiologic and prognosis study of 124 cases.

BACKGROUND: Diffuse axonal injury (DAI) is usually associated to severe trauma. Recent imaging advances made its diagnosis easier. Its prognosis impact is not yet well established. The aim of this article is to describe the epidemiologic, clinical, and radiologic features of posttraumatic DAI and to study its prognosis impact on mortality and outcome according to Glasgow Outcome Scale. METHODS: This is a retrospective study over a 4-year period (2004-2007) of 124 patients admitted for head trauma. Demographic, clinical, biological, and radiologic findings were recorded at admission and during intensive care unit stay. RESULTS: Mean age (±standard deviation) was 28 years±15.8 years. Cranial computed tomography scan was sufficient enough to diagnose DAI in 31 patients. Magnetic resonance imaging was performed in 105 patients with a delay of 7.7 days±8.6 days. Most patients were classified as stage II (49.5%) or stage III (44.8%) according to Gentry's classification. In a multivariate analysis, factors associated with higher mortality were dysautonomia (p=0.018; odds ratio [OR]=4.17), hyperglycemia≥8 mmol/L (p=0.001; OR=3.84) on intensive care unit admission, and subdural hematoma (p=0.031; OR=3.99), whereas factors associated to poor outcome according to Glasgow Outcome Scale score were Glasgow Coma Scale score<8 (p=0.032, OR=3.55), secondary systemic injuries score≥3 (p=0.034, OR=2.83), hyperglycemia≥8 mmol/L (p=0.002, OR=5.55), and DAI count≥6 (p=0.035, OR=3.33). In patients with pure DAI, the absence of consciousness recovery was the unique independent factor of mortality (p<0.001, OR=116.4), whereas only transfusion need was an independent factor of poor outcome (p=0.017, OR=4.44). CONCLUSION: Dysautonomia, hyperglycemia, and subdural hematoma are the main factors associated to higher mortality when DAIs are diagnosed, whereas a DAI count≥6 is associated to poor outcome. Magnetic resonance imaging classification did not have a prognosis value even in patients with pure DAI.

How MRI can contribute to the diagnosis of acute demyelinating encephalomyelitis in children.

OBJECTIVE: To illustrate through 10 pediatric cases, the clinical features, course, and importance of neuroimaging (especially MRI) in guiding the diagnosis of acute disseminated encephalomyelitis (ADEM) and controlling patients after treatment. METHODS: A retrospective review of 10 pediatric cases of ADEM, with special regard to the MRI features, presenting to the Pediatric Departments, Hedi Chaker Hospital, Sfax, Tunisia between January 2002 and December 2008. RESULTS: Children with ADEM presented with variable and multiple neurological signs most often occurring after an infectious episode, especially after upper respiratory tract infection. The MRI permitted confirmation of the diagnosis by showing demyelinating lesions either in the brainstem, the cerebellum, the cerebral white and grey matter, or in the spine of all patients. CONCLUSION: Acute disseminated encephalomyelitis is characterized by multifocal demyelinating lesions resulting in varied neurological signs. The MRI is the technique of choice to show these lesions.

Adenoid cystic carcinoma of the parotid with facial nerve invasion.

BACKGROUND: Adenoid cystic carcinoma comprises approximately 10% of all epithelial salivary neoplasms and most frequently involves the parotid. Perineural invasion is a common feature but intraneural invasion and spread is less common. AIM: The authors report a case of parotid adenoid cystic carcinoma with invasion and spread via the facial nerve with an emphasis on radiologic features. OBSERVATION: We report a case of a 47-year-old man presenting with a right submandibular mass evolving for 4 years. On physical examination, the mass was firm painless, well delineated. There was no facial paralysis. The magnetic resonance imaging (MRI) examination showed a right parotid gland solid mass located in the deep lobe of the parotid gland with mastoid bony involvement.The mass was heterogenously enhanced. High resolution non contrast computed tomographie (CT) scan of the temporal bone showed in the axial and coronal cuts, a widening of the mastoid segment of the facial canal with involvement of the facial nerve. Pathologic examination of the resected specimen revealed histological features of adenoid cystic carcinoma with intra neural invasion of the mastoid segment of the facial nerve. The surgical margins were free. The evolution was favourable 5 years later. CONCLUSION: This study confirms that multiplanar approach of MRI allows rapid detection of adenoid cystic carcinoma. The influence of intraneural invasion and spread on survival remains controversial.

An Apical Mass of the Left Ventricle After a Myocardial Infarction: Imaging Contribution.

Intramyocardial dissecting hematoma (IDH) is a rare complication of myocardial infarction (MI). It can affect the left ventricular free wall, the right ventricle, or the interventricular septum. We report a case of a 58-year-old man with an IDH following an acute anterior wall myocardial infarction detected by echocardiography and confirmed by Cardiac magnetic resonance (CMR).

Congenital lung malformations : analysis of 27 cases.

INTRODUCTION: Congenital lung malformations (CLM) include a complex range of developmental abnormalities. Currently, most are diagnosed prenatally or during early childhood. OBJECTIVE: to investigate clinical and imaging findings of congenital lung malformations in children. METHODS: Retrospective study of CLM diagnosed between 2000 and 2017 at the pediatric and neonatology department of Hedi Chaker Hospital. Analysis of clinical spectrum, diagnosis tools, and radiological appearances. RESULTS: Twenty seven cases of CLM have been investigated: 8 congenital lobar emphysema, 8 congenital cystic adenomatoid malformation, 8 pulmonary sequestrations, 2 bronchogenic cysts, and 1 hybrid lesion. Five (18,5%) patients were diagnosed antenatally and 22 (81,4%) postnatally. Symptoms occurred at a mean age of 9 months: Respiratory distress (11 cases), wheezing (4 cases), and pneumonia (7 cases). Antenatal ultrasound features include echogenic masses within the chest (2cases), the presence of cysts (2cases), unilateral pleural effusion (1 case) and hydramnios (2cases). A computed tomography scan was performed in all patients with a radio-histological concordance of 96%.

Gliosarcoma with osteosarcomatous features: a short illustrated review.

INTRODUCTION: Gliosarcoma is a rare, malignant, biphasic brain tumor formed by both glioblastoma and sarcomatous components. Various lines of differentiation are described in the latter component, but most commonly fibrosarcomatous and pleomorphic sarcoma are present. Osteosarcomatous features are exceedingly rare. OBJECTIVE: We report a case of gliosarcoma with osteosarcomatous features in a 33-year-old woman. METHODS: Histologically, the sarcomatous portion displayed a typical pattern of fibrosarcoma associated with areas of osteoid formation. RESULTS AND CONCLUSION: Immunohistochemical glial fibrillary acid protein (GFAP) expression was seen only in the glioblastoma portion. Clinicopathological characteristics and radiological data of this rare condition were reviewed. Possible differential diagnoses and potential histogenesis were also discussed.

Unrepaired persistent truncus arteriosus in a 38-year-old woman with an uneventful pregnancy.

Persistent truncus arteriosus (PTA) is a rare conotruncal defect, defined as a single arterial vessel arising from the heart, which gives origin to the systemic, pulmonary and coronary circulations. It has an extremely poor prognosis and carries a high mortality rate during the early years of life unless surgically repaired. A few known cases have been reported of patients reaching maturity, and exceptionally, patients suffering from this disease having lived into the fourth decade. The purpose of this report was to present a new case of PTA type 1, diagnosed by echocardiography and MRI, in a 41-year-old woman, with the peculiarity of long survival into adult life. She had also experienced a full-term pregnancy and delivery of a normal infant three years prior to her diagnosis. Pulmonary vascular disease made her condition inoperable but she was doing well with medical management after a follow up of 15 months. Based on this work, we concluded that pulmonary arterial hypertension is deleterious for life in some cardiovascular diseases, but in others, allows survival, as occurred in these patients with PTA. The patient's clinical course and anatomical findings are reported, along with factors that may have contributed to her longevity.

Cholestasis and protein-losing enteropathy secondary to hyperthyroidism in a 6-year-old girl.

Hepatic dysfunctions are not infrequent in patients with hyperthyroidism. These disorders may be related to the effects of the excess thyroid hormone secretion, to the uses of antithyroid drugs, or to the presence of concomitant hepatic diseases. Our aim is to describe the clinical and biochemical features of liver dysfunction related to thyrotoxicosis. We report here a case of a 6-year-old girl who was admitted for jaundice and pruritus as a result of the development of hyperthyroidism due to Graves' disease. On physical examination at admission, she was found to have jaundice and hepatomegaly. Laboratory data show cholestasis and protein-losing enteropathy. Investigations exclude other causes of hepatic disorder. One month after the initiation of antithyroid drug, the patient became euthyroid with improvement in jaundice and pruritus and normalization of hepatic tests and alpha antitrypsine clearance. In conclusion, the diagnosis of hyperthyroidism may be delayed in patients in whom the primary manifestations were pruritus and jaundice. The physician should suspect thyrotoxicosis prior to hepatitis or skin manifestations.

Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. The enzymes most commonly affected are 21-hydroxylase. Past reports suggested brain magnetic resonance imaging (MRI) abnormalities in CAH patients, affecting white matter signal, temporal lobe and amygdala structure and function. AIMS: In the present study, we aimed to investigate the frequency of white matter changes and temporal lobes structures dysgenesis in a population of patients having CAH due to 21-hydroxylase deficiency. MATERIALS AND METHODS: Neurological examination and brain MRI were performed in 26 patients. RESULTS: Neurological examination revealed mental retardation in three patients, tremor in two patients, tendon reflexes asymmetry in one patient, and cerebellar syndrome in one patient. Eleven patients (42.3%) showed MRI abnormalities: Eight of them had white matter hyperintensities, one patient had moderate atrophy in the right temporal, and hippocampal dysgenesis was found in the remaining two patients. CONCLUSIONS: Brain MRI abnormalities in CAH patients include white matter hyperintensities and temporal lobe structures dysgenesis. The mechanisms involved seem related to hormonal imbalances during brain development and exposure to excess exogenous glucocorticoids. Clinical implications of such lesions remain unclear. More extensive studies are required to define better the relationships between brain involvement and different CAH phenotypes and treatment regimens.

Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11ß-Hydroxylase Deficiency.

Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs). Leydig cell tumors (LCTs) are make up a very small number of all testicular tumors and can be difficult to distinguish from TARTs. This distinction is interesting because LCTs and TARTs require different therapeutic approaches. Hereby, we present an unusual case of a 19-year-old patient with CAH due to 11ß-hydroxylase deficiency, who presented with TARTs and an epididymal Leydig cell tumor.

[Bilateral emphysematous pyelonephritis caused by Candida glabrata: An exceptional entity]. / La pyélonéphrite emphysémateuse bilatérale à Candida glabrata : une entité exceptionnelle.

Acute emphysematous pyelonephritis (AEP) is a severe form of urinary tract infection. It occurs usually in diabetics. The most concerned agents are the Gram-negative bacilli. We report a first case of bilateral AEP due to Candida glabrata, occurred in a 64-year-old diabetic woman. The clinical presentation started with fever and abdominal pains, without signs of urinary tract infection. Within six hours, the patient had developed a septic shock with renal failure and ketoacidosis. The diagnosis was confirmed by CT scan and the pathogen was isolated in urine. Despite antibiotic and antifungal treatment, she died from a septic shock. Acute emphysematous pyelonephritis due to Candida species is rare. However, the addition of antifungal therapy seems justified if a severe emphysematous pyelonephritis is associated with risk factors of Candida infection.

Persistent Müllerian duct syndrome with torsion of a transverse testicular ectopia: first reported case.

Persistent Müllerian duct syndrome with transverse testicular ectopia is a rare pathologic association. A 7-month-old boy was admitted to the emergency department with a right testicular swelling. Physical examination revealed a tender right testis, the upper limits of which could not be palpated. The left testis was impalpable. An ultrasound revealed a normal right testis with an evident blood flow, overcome by a similar mass but avascular. At surgery, the right hernial sac contained both testes with an infantile uterus and fallopian tubes. The left testis was viable after manipulation. Proximal-salpingectomy with corporeal hysterectomy was performed to allow bilateral scrotal orchiopexy.