Vein of Galen aneurysmal malformation diagnosed prenatally: A case report.

The vein of Galen aneurysmal malformation is a rare congenital malformation of the cerebral blood vessels. It is a result of the persistence of an embryonic vessel that drains multiple arteriovenous shunts. This malformation can cause a multitude of symptoms ranging from cardiac failure to headaches depending on the age of presentation. In the fetus, cardiac manifestations are rare and are linked to a very poor prognosis. That's why prenatal diagnosis is crucial in early detection and management. We present a case of a vein of Galen aneurysmal malformation, diagnosed prenatally with ultrasonography. The newborn developed widely a high-output cardiac failure. Prenatal diagnosis facilitates the early detection of this malformation as well as predicting the prognosis.

Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort.

BACKGROUND: Moyamoya angiopathy is a rare cerebral vasculopathy and an underdiagnosed cause of arterial ischemic stroke in children. We aim to report the clinical and radiological presentations in a Tunisian pediatric cohort. METHODS: We identified moyamoya angiopathy in pediatric patients managed at the Child Neurology Department of Hedi Chaker Sfax University Hospital between 2008 and 2020 and reviewed their clinical and radiological data as well as their evolutionary profile. RESULTS: We collected 14 patients with median age 40.6 months and a female predominance (sex ratio of 0.75). An arterial ischemic stroke (AIS) revealed the disease in all patients, with the major symptom being a motor deficit. Symptoms related to a transient ischemic attack before the diagnostic consultation were reported in four patients. Carotid territory was, clinically and radiologically, the most frequently involved. Brain magnetic resonance imaging with angiography was performed in 12 patients confirming the diagnosis by revealing the development of collateral vessels. All the investigations concluded to moyamoya disease in 57.2% and moyamoya syndrome in 42.8%. The latter was related to Down syndrome in five patients and neurofibromatosis type 1 in one patient. With a mean follow-up of 2.35 years, two patients had at least two more AISs during the first two years following diagnosis and 42.8% of patients were diagnosed with vascular or poststroke epilepsy. Full recovery was noted in 14.3% of cases. CONCLUSIONS: Moyamoya angiopathy in children is a serious condition that needs to be recognized due to the high risk of recurrent ischemic strokes.

Subglottic Masses Revealing Rosai-Dorfman Disease.

Rosai-Dorfman disease (RDD) is an uncommon lymphoproliferative disorder; RDD with oropharyngeal involvement is extremely rare, especially in adults. A 65-year-old woman with a complaint of progressive dyspnoea since 2016 presented with laryngeal involvement of RDD. A laryngoscopy examination revealed two solid, polypoid masses in the subglottic region, and a laryngeal biopsy concluded chronic inflammation without signs of malignancy. A second biopsy of axillary lymph nodes was performed, supporting the diagnosis of histiocytosis. The patient was treated with corticosteroids and then lost to follow-up. In 2019, she suffered from dyspnoea and a hoarse voice. Laryngoscopy examination showed a polypoid lesion causing airway obstruction at 70% and thickening of the lateral wall of the cavum. Physical examination found left axillary and submandibular adenopathy, and computed tomography revealed thickening of the supraglottic larynx narrowing the laryngeal pathway. Lymphadenectomy with immunohistochemical analysis revealed typical protein positive S-100 histiocytes and emperipolesis. The patient was treated with high doses of corticosteroids for six weeks then these were progressively decreased. The outcome was favourable; the laryngeal lesion disappeared after two weeks of treatment. LEARNING POINTS: Rosai-Dorfman disease is a rare cause of lymphadenopathy in adults. Extranodal presentation of the disease is possible mainly in the head and the neck region.The diagnosis is based on histological examination with the presence of histiocytes, which are S-100 positive, CD68 positive, and CD1a negative immunohistochemistry.The outcome is usually good in asymptomatic forms of the disease with no critical organ involved. The surgical resection is appropriate to the localised symptomatic form of the disease while corticosteroids are indicated in disseminated RDD as a first-line therapy.Inspired by our case, rare localisation of Rosai-Dorfman disease (RDD), led to clinical and therapeutic issues. That is why a review of the literature must be undertaken, to share experiences.

Case report: Management challenges of late diagnosed 17-alpha hydroxylase deficiency.

Herein we report the intriguing case of a 42-year-old woman presenting with grade three hypertension, severe hypokalemia and primary amenorrhea, which revealed to be the complete form of 17 alphahydroxylase deficiency. We also discuss the challenging therapeutic approach as well as the outcomes and the follow-up of this patient.

Design and Rationale of the National Observational Multicentric Tunisian Registry of Hypertension: Protocol for Evaluating Hypertensive Patient Care in Clinical Practice.

BACKGROUND: This study was designed to evaluate the care of hypertensive patients in daily clinical practice in public and private centers in all Tunisian regions. OBJECTIVE: This study will provide us an overview of hypertension (HTN) management in Tunisia and the degree of adherence of practitioners to international recommendations. METHODS: This is a national observational cross-sectional multicenter study that will include patients older than 18 years with HTN for a duration of 4 weeks, managed in the public sector from primary and secondary care centers as well as patients managed in the private sector. Every participating patient signed a consent form. The study will exclude patients undergoing dialysis. The parameters that will be evaluated are demographic and anthropometric data, lifestyle habits, blood pressure levels, lipid profiles, treatment, and adherence to treatment. The data are collected via the web interface in the Dacima Clinical Suite. RESULTS: The study began on April 15, 2019 and ended on May 15, 2019. During this period, we included 25,890 patients with HTN. Data collection involved 321 investigators from 24 Tunisian districts. The investigators were doctors working in the private and public sectors. CONCLUSIONS: Observational studies are extremely useful in improving the management of HTN in developing countries. TRIAL REGISTRATION: ClinicalTrials.gov NCT04013503; https://clinicaltrials.gov/ct2/show/NCT04013503. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/21878.

Epidemiologic features and management of hypertension in Tunisia, the results from the Hypertension National Registry (NaTuRe HTN).

BACKGROUND: Hypertension is the leading cause of morbi-mortality in our country. Thus, we conducted this national survey on hypertension to analyze the profile of the Tunisian hypertensive patient and to assess the level of blood pressure control. METHODS: Nature HTN is an observational multicentric survey, including hypertensive individuals and consulting their doctors during the period of the study. Blood pressure measurements were conducted during consultation, using a standardized auscultatory or oscillometric sphygmomanometer after at least 15 min of rest. The diagnosis of new hypertension is based on the 2018 ESC/ESH criteria. The primary endpoint of our study was uncontrolled hypertension defined by a systolic blood pressure ≥ 140 mmHg and/or diastolic blood pressure ≥ 90 mmHg. RESULTS: Three hundred twenty-one investigators participated in the study. We enrolled 25,890 patients with a female predominance (Sex ratio, 1.21) and an average age of 64.4 ± 12.2 years. Most individuals were treated in the public sector (74%), 39.4% of patients were diabetic, 25.8% were obese, 44.6% were overweight and 14% were smokers. Hypertension was controlled in 51.7% of cases if we consider 140/90 as a BP target, and only in 18.6% if we consider 130/80 as a target. The independent predictors of uncontrolled blood pressure were male sex (OR = 1.09, 95%CI [1.02-1.16]), age > 65 year-old (OR = 1.07, 95% CI[1.01-1.13], diabetes (OR = 1.18, 95% CI [1.11-1.25], Smoking (OR = 1.15, 95% CI [1.05-1.25]), Obesity (OR = 1.14, 95% CI[1.07-1.21]), management in public sector (OR = 1.25, 95% CI [1.16-1.34]), and Heart rate > 80 bpm (OR = 1.59, 95% CI [1.48-1.71]). Contrarily, high educational level (OR = 0.9, 95% CI [0.84-0.97], absence of history of coronary disease (OR = 0.86, 95% CI [0.8-0.93]), salt restriction (OR = 0.48, 95% CI [0.45-0.51]), drug compliance (OR = 0.57, 95% CI[0.52-0.61]), and regular physical activity (OR = 0.77, 95% CI[0.71-0.84]) are strong predictors of blood pressure control. CONCLUSION: NaTuRe HTN showed that blood pressure control was reached in more than half of the Tunisian people. The control remains low in patients with high cardiovascular profiles and in those treated in the public sector. A national health program based on therapeutic education, regular control and continuous support to the public institutions is needed to decrease the burden of hypertension incidence rate.

Accelerated silicosis and silico-tuberculosis: A difficult diagnosis.

It is well established that exposure to respirable crystalline silica is associated with higher mortality. Such exposures are associated with an increased risk of silico-tuberculosis, silicosis, and other respiratory morbidities. We report two cases of accelerated silicosis, complicated with pulmonary tuberculosis and pulmonary infection.

Suprasellar Melanocytoma with Leptomeningeal Seeding: An Aggressive Clinical Course for a Histologically Benign Tumor.

INTRODUCTION: Meningeal melanocytoma (MM) is a very rare neuroectodermal neoplasm arising from the leptomeninges. Primary suprasellar melanocytomas are exceedingly rare, with only a handful of cases reported. The systemic spread of a nontransformed meningeal melanocytoma is an unusual occurrence. Herein, we report the first case of a primary sellar melanocytoma with cerebral and spinal meningeal seeding. Case Report. A 30-year-old male with no previous medical history presented to the endocrinology department with a loss of body hair. The endocrine workup concluded with isolated hypogonadotropic hypogonadism. The Magnetic Resonance Imaging (MRI) of the brain and sella revealed a large suprasellar mass continuous with the infundibulum of the pituitary gland. It was heterogeneously hyperintense on T1-, T2-, and FLAIR-weighted images and was enhanced with contrast, along with cerebral and spinal leptomeningeal spread. The patient was referred to the neurosurgery department, and a lumbar spine biopsy was indicated. The histopathological examination was suggestive of a grade I meningeal pigmented melanocytoma. CONCLUSION: Thus, primary sellar melanocytomas with leptomeningeal spread are an extremely rare phenomenon. Metastatic malignant melanoma should be ruled out. Being aware of differential diagnosis and the unusual behavior of meningeal melanocytoma will be necessary to manage the patient appropriately. Complete tumor resection is the best treatment whenever possible, and radiotherapy should be considered in case of unresectability or partial resection.

Multifocal bone tuberculosis simulating metastasis.

Multiple skeletal tuberculosis can be the first sign of tuberculosis. In such cases, physicians should consider tuberculosis diagnosis and take biopsies for anatomopathological evidence to make the correct diagnosis.

Breast tuberculosis: a diagnosis not to be forgotten

Objective: To study the clinical characteristics and imaging features of breast tuberculosis (TB) and to describe treatment. Material and Methods: A retrospective study including all patients hospitalized in the infectious diseases department for breast TB between 1997 and 2018. Results: Twenty-two women, with a mean age of 39±12 years, were identified. In total, 18 patients were multiparous (81.8%). Both lump and mastalgia were the presenting symptoms in 19 cases (86.3%). Ipsilateral axillary lymphadenopathy was noted in 14 cases (63.6%). The most common finding on ultrasound was a well or poorly defined mass lesion, noted in 17 cases (77.2%), followed by fistulous tracts in seven cases (31.8%). Mammography showed focal, asymmetric breast density in 17 cases (89.5%) and diffuse in two cases (10.5%). The diagnosis was confirmed based on the presence of epithelioid cell granulomas and caseous necrosis in 13 cases (59.1%). Patients received antitubercular therapy for a mean duration of 11±5 months. The disease evolution was favorable in 20 cases (91%). There were two relapsing cases (9%). Conclusion: Breast TB should be considered in the differential diagnosis of young patients presenting with palpable lump with axillary lymphadenopathy, especially in endemic regions. The diagnosis confirmation usually requires an excision biopsy providing histological or bacteriological evidence.

An isolated spontaneous pneumomediastinum as a rare complication of COVID 19.

The Coronavirus Disease 2019 (COVID-19) pandemic has displayed heterogeneity in disease manifestations and complications. This case report illustrates a rare issue : the spontaneous pneumomediastinum. A 73-year-old male presented with chills, and respiratory symptoms. A reverse transcriptase polymerase chain reaction (RT-PCR) test- confirmed COVID19. At admission, the patient was in severe respiratory distress. C reactive protein was 54 mg/l (normal: 0-5 mg/l), , troponin were negative, brain natriuretic peptid 55 pg/ml (normal range <100 pg/ml) and D-dimer 700 mcg/l (normal: 0-500 mcg/l). Arterial blood gases showed pH 7.49 (normal: 7.35-7.45), PCO2 33,8 mmHg (normal: 34-46 mmHg) and PO2 56 mmHg (normal: 80-97 mmHg) with 16 liter per minute of oxygen. Computed tomography of the chest (CT chest) showed diffuse groundglass opacities (60-70%) without pulmonary embolism. Diagnosis of acute respiratory distress syndrome (ARDS) was made. Low flow oxygen was provided (Oxygen saturation target ≥ 94%), intermediate dose of low molecular weight heparin and 8mg of dexamethason were administarted daily. On day 10, worsening hemodynamics and blood oxygen levels was noted. CT chest showed moderate bilateral pneumomediastinum, without pneumothorax, persistent groundglass opacities (75%) with early fibrosis elements. The patient recovered with no pulmonary sequelae. This case report encourages health workers to get used with infrequent clinical and radiological manifestations of COVID-19 that is still surprising the world.

Tuberculous and Brucellar Spondylodiscitis: Comparative Analysis of Clinical, Laboratory, and Radiological Features.

STUDY DESIGN: This was a retrospective study. PURPOSE: The aim was to compare the clinical, laboratory, radiological, and evolutionary features of tuberculous spondylodiscitis (TS) and brucellar spondylodiscitis (BS). OVERVIEW OF LITERATURE: Clinical presentation of spondylodiscitis varies according to the underlying etiology, among which brucellosis and tuberculosis represent the primary cause, in endemic countries. Only a few studies have compared the characteristics between TS and BS. METHODS: A retrospective study was conducted using the data of all patients hospitalized for TS and BS in the infectious diseases department between 1991 and 2018. RESULTS: Among a total of 117 patients, 73 had TS (62.4%) and 44 had BS (37.6%). Females were significantly more affected with TS than males (56.2% vs. 22.7%, p<0.001). Fever (72.7% vs. 45.2%, p=0.004) and sweating (72.7% vs. 47.9%, p=0.009) were significantly more frequent among patients with BS. The median erythrocyte sedimentation rate was significantly higher in the TS group (median, 70 mm/hr; interquartile range [IQR], 45-103 mm/hr) than in the BS group (median, 50 mm/hr; IQR, 16-75 mm/hr) (p=0.003). Thoracic involvement was significantly more frequent in the TS group (53.4% vs. 34.1%, p=0.04), whereas lumbar involvement was significantly more frequent in the BS group (72.7% vs. 49.3%, p=0.01). Initial imaging findings revealed significantly higher frequencies of posterior vertebral arch involvement, vertebral compaction, and spinal cord compression in the TS group. Percutaneous abscess drainage (20.5% vs. 2.3%, p=0.005) and surgical treatment (17.8% vs. 2.3%, p=0.01) were more frequently indicated in the TS group, with a significant difference. CONCLUSIONS: A combination of clinical, laboratory, and radiological features can be used to distinguish between TS and BS while these patients await diagnosis confirmation.

[Splenic artery aneurysm rupture at the end of pregnancy: a case study]. / Rupture d'un anévrisme de l'artère splénique en fin de grossesse: à propos d'un cas.

Bleeding during pregnancy may not be due to obstetric causes. Pregnancy is a predisposing factor for some disorders due to physiological changes. These obstetric bleedings are rare but are responsible for high materno-fetal mortality. Prognosis depends on the speed of diagnosis as well as on multidisciplinary management. Splenic artery aneurysm (SAA) rupture during pregnancy is rare with a dreadful prognosis. Common clinical signs including abdominal pain associated with hypotension and anemia are very misleading for the obstetrician who usually suspects retroplacental hematoma or uterine rupture. We report the case of a pregnant patient requiring emergency laparotomy due to the detection of splenic artery aneurysm rupture on imaging test.

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene.

BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients. RESULTS: We report for the first time thyroid function impairment in CDS. Among 12 investigated patients, 7 showed thyroid function impairment. All of them were over 30 of age. The 5 remaining investigated patients with normal thyroid function were under 30. Thyroid loss of function is an unknown clinical feature of CDS that could gradually develop with age. Thyroid ultrasound showed an abnormal aspect in all investigated patients (6 with thyroid impairment and 3 with normal thyroid function). Cervical MRI done in 2 patients with thyroid impairment showed fat infiltration of thyroid parenchyma. Audiogram carried out in 8 of our patients showed sensorineural hearing impairment in all patients, although only 2 patients suffered from clinical hypoacusia. We also demonstrated that kidney could be a more commonly involved organ than previously reported in the literature. A poorly differentiated kidney parenchyma is a common feature in our series. One patient showed cerebellar atrophy and T2 hypersignal of brain's white matter in MRI. All patients carried the same founder mutation c.773(- 1)G > A in the ABDH5 gene. DISCUSSION: Aside from the congenital ichthyosiform erythroderma, the most common symptom of CDS, in addition to other organs involvement frequently reported in the literature, we described thyroid dysfunction, an unreported feature, probably related to the lipid infiltration of the thyroid parenchyma. The association found between age and hypothyroidism in CDS patients could explain the gradually development of thyroid disease with age. CONCLUSION: We reported a thyroid dysfunction and unreported ultrasonographic aspects of kidneys and cerebral MRI in CDS patients. METHODS: We performed clinical analyses in 15 patients in whom thyroid, liver, ocular, kidney, skeletal muscle and neurological involvement were explored. Genetic and molecular explorations were performed by direct sequence analysis. Software SPSS, Fisher's exact test and ANOVA were used for statistical analyses.

Factors Predicting Lung Contusions in Critically Ill Trauma Children: A Multivariate Analysis of 330 Cases.

PURPOSE: The aim of the study was to identify factors predicting lung contusion in trauma children. METHODS: Retrospective study conducted for a period of 8 years (January 01, 2005-December 31, 2012) in a medical surgical intensive care unit. All trauma patients younger than 15 years were included. Two groups were compared: those with lung contusions (C+ group) and those without lung contusions (C- group). RESULTS: We included 330 patients. The mean (SD) age was 7.6 (4.3) years. Chest injury was diagnosed in 70 patients (21.2%). All our patients needed mechanical ventilation. Lung contusions were diagnosed in 43 patients (13% of all patients and 61.4% of patients with chest trauma). In multivariate analysis, independent factors predicting lung contusion were road traffic accident (odds ratio [OR], 3.2; 95% confidence interval [CI], 1.2-8.6; P = 0.019), increased Pediatric Risk of Mortality (PRISM) score (OR, 1.1; 95% CI, 1.1-1.2; P = 0.017), hepatic contusion (OR, 4.8; 95% CI, 1.3-17.1; P = 0.017), and pelvic ring fracture (OR, 3.5; 95% CI, 1.1-10.5; P = 0.026). Death occurred in 46 patients (13.9%). Intensive care unit mortality was significantly higher in the C+ group (OR, 2.5; 95% CI, 1.2-5.4; P = 0.021). However, mortality was not different between the 2 groups after adjusting for PRISM score (OR, 1.2; 95% CI, 0.5-2.9; P = 0.752) or after adjusting for Injury Severity Score (OR, 0.7; 95% CI, 0.3-2.1; P = 0.565). CONCLUSIONS: Lung contusion is common in critically ill children with chest trauma. The diagnosis should be considered in patients with road traffic accident, increased PRISM score, hepatic contusion, and pelvic ring fracture.

Minimal change disease in horseshoe kidney.

The horseshoe kidney is a frequent urological birth defect. The most frequent complications are urinary tract infections, stones and hydronephrosis. The occurrence of glomerular disease in horseshoe kidney is rare. Therefore, we report the first case of minimal change disease occurring in a patient with horseshoe kidney in literature. A 22-year-old Caucasian man without personal or family medical history admitted to the pneumology department for a pulmonary artery embolism. In presence of a generalized oedema, a biological assessment was performed yielding intense nephrotic syndrome with urine protein excretion 22g/day. The abdominal ultrasound revealed a horseshoe kidney. Hence a scanno-guided kidney biopsy was taken yielding minimal change disease. High dose steroids were started, then gradually tapered with good response. Horseshoe kidney is the most common renal fusion anomaly, with a prevalence of 0.25% among the general population. The occurrence of glomerular nephropathy in horseshoe kidney has been reported in few cases. We report the first case of minimal change disease occurring in a patient with horseshoe kidney in literature. The mechanism of the association between the horseshoe kidney and these renal pathologies could not be explained in the previous reports. There is no literature data indicating a high rate of glomerulonephritis in horseshoe kidneys. The co-incidence of two renal diseases in this patient can be only a coincidence. The question that arises is whether this glomerulopathy is associated or not with this anatomical abnormality. Further studies are needed to answer this question.