ABSTRACT
Wilson's disease (WD), or "hepato-lenticular degeneration," is a rare genetic disorder of autosomal recessive inheritance causing toxic tissue accumulation of copper, mainly in the liver, brain, and cornea. Its phenotypic and genotypic heterogeneity characterizes it. This study aimed to clarify the clinical features and spectrum of Wilson's disease in children from the eastern region of Morocco and to study the evolutionary profile and survival in this population while discussing and highlighting the various diagnostic and therapeutic difficulties encountered in the management of WD in our context. This retrospective study encompassed 24 children diagnosed with Wilson's disease, selected from the gastroenterology-hepatology and pediatric nutrition units at Mohamed VI University Hospital in Oujda, Morocco, over a span of nine years, from January 2015 to November 2023. Our series results show 14 boys and 10 girls; the median age of discovery was 11 years, with extremes ranging from 18 months to 15 years. The consanguinity was found in 13 patients. Clinically, the edemato-ascitic syndrome was noted in 14 patients with an alteration of the general state; icterus was found in 13 patients; signs of portal hypertension were present in six patients; and neurological signs in seven cases. Skin manifestations occurred in three cases, and arthralgia in three cases. Six children were diagnosed on the occasion of a family screening. Biologically, hepatic cytolysis was found in 20 patients, with signs of hepatocellular failure in 15 cases. Hemolytic anemia was present in nine patients. Ceruloplasminemia was decreased in 21 patients and cupremia in 19 patients. Cupruria was increased in 22 cases. The Kayser-Fleicher ring was found in 10 cases. Abdominal ultrasound showed ascites in 16 patients, hepatomegaly in 1, splenomegaly in two cases, hepatosplenomegaly in five cases, and cirrhosis in two. MRI showed signal abnormalities in 11 patients. Therapeutically, D-penicillamine was initially introduced in 18 patients and zinc acetate in 6 patients. The evolution was favorable for 15 patients still followed up in the department. Three patients died of hepatocellular failure, and two died of hepatic encephalopathy. Four patients were lost to follow-up.
ABSTRACT
Rhabdomyosarcoma is a malignant tumor in children that might mimic a benign tumor, such as infantile hemangioma, particularly when detected early. Although rhabdomyosarcoma rarely occurs in the hand, its prognosis is generally poor, and successful treatment relies on a complete and radical surgical excision. We present a case of rhabdomyosarcoma located in the palm of an infant's hand, initially presenting clinical and radiological features suggestive of a vascular tumor. The resection of this mass was radical, and histological analysis and immunohistochemistry returned in favor of embryonic rhabdomyosarcoma. In similar cases recorded in the literature, the diagnosis may be first mistaken for that of a hemangioma, then confirmed by histology. This underlines the importance of a systematic anatomopathological examination of all tissues removed surgically.
ABSTRACT
Total anomalous pulmonary venous return (TAPVR) represents a group of anomalies consisting of a lack of connection between the pulmonary veins and the left atrium. All oxygenated pulmonary venous return flows directly or indirectly into the right atrium. Survival is only possible with a right-to-left atrial shunt. It remains rare, accounting for less than 1% of all congenital heart diseases. Its association with tetralogy of Fallot is much rarer and has been documented in medical literature as isolated cases. Early prenatal diagnosis, rapid surgical repair, and optimal postoperative resuscitation appear to be the best guarantee of a favorable outcome following total repair of a pulmonary venous connection anomaly. Non-obstructed forms present as high-flow shunts with moderate cyanosis. The symptomatology of blocked forms is dominated by the obstruction to venous return; a clinical picture of respiratory distress with intense cyanosis and severe pulmonary arterial hypertension develops from the first days of life. Echocardiography is fundamental in diagnosing TAPVR. If the results are inconclusive, magnetic resonance imaging and computed tomography are appropriate alternatives for establishing a complete and accurate diagnosis. We report a case of a two-month and 22-day-old infant who is a product of a twin pregnancy, presenting with a non-obstructed TAPVR associated with tetralogy of Fallot, and his twin who died on day 20 of life, likely due to a complex cyanotic congenital heart disease.
ABSTRACT
Abernethy syndrome is a rare congenital malformation stemming from a portosystemic shunt. Diagnosis proves challenging due to nonspecific clinical symptoms, with presentation varying based on age and disease severity. Consequences include hepatic, cardiovascular, renal, gastrointestinal, and neurological complications, and growth retardation. We report the case of a child presenting with perioral and digital cyanosis, observed in early childhood. Clinical examination revealed low saturation, telangiectasias, digital clubbing, and collateral venous circulation in the thorax. Imaging confirmed the diagnosis of Abernethy syndrome.
ABSTRACT
Toxic leukoencephalopathy (TL) refers to damage to the brain white matter following exposure to toxic agents. Multiple agents are incriminated in this condition, including chemotherapy drugs. 5-Fluorouracil, widely used in oncology, is responsible for neurotoxicity in less than 5% of cases. We report the case of a 54-year-old male patient who presented with neurological symptoms following 5-FU-based chemotherapy for gastric adenocarcinoma, and whose MRI scan revealed signs suggestive of toxic leukoencephalopathy. We also report on the evolution of the abnormalities described on his MRI after 1 year.
ABSTRACT
Diastatic perforation corresponds to a bursting of the cecal wall caused by excessive distension resulting from a remote obstruction of the low large bowel. This perforation could be explained by Laplace's physical law, and by the particular vascular anatomy of the cecal wall. We report the case of a 75-year-old man admitted for peritonitis with an abdominal CT scan highly suggestive of a diastatic perforation of the cecum complicating colonic distension upstream of a stenosing tumor of the rectosigmoid junction. To our surprise, surgical exploration revealed the defect to be in the transverse colon and not in the cecum. Diastatic perforation of the transverse colon is exceptional, and would require other pathophysiological explanations than those for classical cecal perforation.
ABSTRACT
Tuberculosis poses a significant public health challenge, especially in highly endemic countries. Rarely, it appears as an abdominal mass resembling a malignant abdominal tumor and can be misleading on imaging, so early diagnosis remains a challenge, and confirmation may require invasive examinations such as laparotomy. The most characteristic radiological appearance is that of a solid, hypervascular, or peripherally enhancing mass with a hypodense center. We present a case of retroperitoneal tuberculosis that simulated a teratoma on imaging. This case highlights the diagnosis difficulties even in endemic countries, despite advances in imaging techniques such as ultrasound and computed tomography.
ABSTRACT
Abdominal aortic aneurysm has been described as a rare condition touching 1% of the population over the age of 50 years with a high percentage of mortality. Aneurysms progress in size, causing deadly complications such as ruptures and fistulas. Computed tomography angiography is considered the gold standard imaging exam for the evaluation of abdominal aortic aneurysms and their complications. We report the case of an elderly patient admitted to the emergency room due to recurrent gastrointestinal bleeding. The computed tomography imaging findings were in favor of an abdominal aortic aneurysm complicated with a primary aortoduodenal fistula.
ABSTRACT
Cocaine use is responsible for multiorgan damage, including the brain and lungs. Bilateral and symmetrical involvement of the basal ganglia may be due to toxic, metabolic, vascular, inflammatory, infectious, or tumoral causes. Cocaine-related encephalopathy mainly affects the white matter, while basal ganglia involvement is an uncommon finding. Cocaine-induced lung damage varies clinically and even radiologically, with signs that lack specificity. The diagnosis of cocaine-induced lung or brain injury is based on suggestive radiological signs in the context of cocaine consumption and after the elimination of other etiologies likely to present the same patterns. The context of cocaine use is often not spontaneously declared, making diagnosis more complicated. We report the case of a 28-year-old male patient, with a history of freebase cocaine use, admitted to the emergency room in severe coma with respiratory distress. Brain MRI showed bilateral and symmetrical abnormalities of the basal ganglia. A chest CT scan revealed interstitial lung damage dominated by the ground-glass pattern. The urine toxicology test was positive for cocaine. Cocaine-related lesions can be reversible, and therapeutic management is essentially based on supportive care.
ABSTRACT
Cerebral actinomycosis is a rare, chronic, but curable bacterial brain infection. We report the case of an 18-year-old male patient with a history of facio-cranial trauma, admitted in our institution with severe headaches and behavioral disorders. Magnetic resonance imaging (MRI) was performed showing the presence of contiguous multiple small round and ovoid lesions in the right frontal lobe with "the dot in circle" appearance. The diagnosis of cerebral actinomycosis was confirmed by histological study of the biopsy sample. Despite it being a rare condition, it is important to consider this diagnosis in patients with atypical post-traumatic neurological symptoms.
ABSTRACT
Moya-Moya disease (MMD) is a rare cerebral vasculopathy affecting children and adults. It is a progressive steno-occlusive arterial disease generally discovered during the etiological assessment of an ischemic or hemorrhagic stroke. Its diagnosis is based essentially on imaging. Cerebral digital subtraction angiography (DSA) remains the gold standard. We report the case of a 42-year-old male patient admitted for the loss of consciousness with a Glasgow Coma Scale (GCS) of 12/15. A brain CT scan revealed a right capsulo-lenticular hematoma with ventricular flooding and hydrocephalus. Cerebral CT angiography showed features of Moya-Moya vasculopathy, which was confirmed by a cerebral catheter angiogram.
ABSTRACT
Pneumosinus dilatans (PSD) is an abnormal dilatation and enlargement of one or more paranasal sinuses, extending beyond the anatomic bony boundaries, without defect or thinning of its bony walls. It is documented by only a few reports. Usually asymptomatic, it is in general found incidentally on imaging. It is important for radiologists to recognize the diagnosis and rule out eventual associated conditions such as meningiomas, orbital tumors, arachnoid cysts, and fibrous dysplasia. We report the case of PSD diagnosed incidentally in a 51-year-old female patient who presented to the emergency department with confusion.
ABSTRACT
Ortner's syndrome refers to vocal cord paralysis resulting from compression of the left recurrent laryngeal nerve by abnormal mediastinal vascular structures. We present a case of an 89-year-old man who was an active smoker, with a clinical history of hypertension, who presented hoarseness of voice with chronic evolution. Neck and Thoracoabdominal CT angiography was performed revealing a thrombosed aneurysm of the aortic arch.
ABSTRACT
Uterine scar pregnancy is a rare form of ectopic pregnancy that is life-threatening and functionally compromising due to complications such as hemorrhage or early uterine rupture. We report the case of a 41-year-old patient admitted for metrorrhagia at 13 weeks' amenorrhea. Transvaginal ultrasound allowed early diagnosis of pregnancy on uterine scar and MRI-guided therapeutic management indicating hysterectomy. This study and literature review aims to highlight the importance of imaging features in the diagnosis and management of this rare condition, knowledge of which may improve prognosis.
ABSTRACT
Even though it is an uncommon presentation of tuberculosis, tuberculous meningitis is one of the most deadly manifestations. We report a case of a 6-year-old female who presented to the emergency room for left hemiparesis. Cerebral CT and MRI showed a right ischemic stroke with severe leptomeningitis in the medial cranial fossa. Numerous miliary tuberculomas were demonstrated, as well as a moderate hydrocephalus. Lumbar puncture revealed meningitis, and the mycobacterium tuberculosis polymerase chain reaction from CSF was positive. Pulmonary micronodules on chest CT were suggestive of tuberculosis. The clinical and radiological features, as well as the management approaches of this unusual disease complex, are addressed.
ABSTRACT
Introduction: Vestibular schwannoma (VS) is a benign tumor that develops from Schwann cells of the eighth cranial pair, mainly in the cerebellopontine angle. Case Presentation: We report the case of a 30-year-old female patient who developed left otalgia associated with neglected tinnitus, the evolution of which was marked by the development of a static cerebellar syndrome and a behavioral disorder, whose brain MRI revealed a locally advanced process in the cerebellopontine angle at the expense of the vestibulocochlear nerve, in favor of a VS, complicated by involvement of the tonsils, which unfortunately led to the patient's death. Discussion: VS, formerly known as acoustic neuroma, is an extra-axial intracranial tumor that accounts for over 80% of pontocerebellar angle tumors, and is secondary in the majority of cases to inactivation of the neurofibromatosis type 2 (NF2) tumor suppressor gene, either by mutation of the NF2 gene or loss of chromosome 22q. In the majority of cases, it is unilateral and solitary, but in almost 8% of cases, it is associated with NF2. Cerebral MRI is the examination of choice for the detection, characterization, and diagnosis of VS without the need for biopsy, mainly with T1-weighted sequences before and after gadolinium injection. Treatment is based essentially on surgery or radiosurgery, depending on the size, impact, and expertise of the treatment team. Conclusion: VS remains an important intracranial tumor entity, which can be life-threatening in cases of advanced local invasion.
ABSTRACT
Introduction: Cerebral lymphoma is a rare and aggressive brain tumor. It accounts for 1% of all non-Hodgkin's lymphomas (NHL) and 2% of all brain tumors. Untreated brain lymphoma has a very poor prognosis, with an overall life expectancy of around 1.5 months. Case presentation: The authors report the case of a 35-year-old patient, with no previous pathological history, who presented for 3 weeks with deafness and recently aggravated otalgia. In MRI, brain imaging revealed a formation initially suggestive of an aggressive meningioma, and the histological study of the operative specimen was in favor of a diffuse large-cell non-germ-center B NHL. Clinical discussion: Primary central nervous system lymphoma is an extra-nodal NHL localized to the brain, meninges, spinal cord, and eyes. In 90% of cases, these are diffuse large B-cell lymphomas, the other types being poorly characterized low-grade lymphomas, T-cell lymphomas, and Burkitt's lymphomas. MRI with gadolinium contrast is the gold standard for diagnosis which enhancement is homogeneous and well-limited, frequently associated with perilesional vascular edema. In T2-weighted sequences, there is a weak signal with restricted diffusion on diffusion-weighted imaging. The management of brain lymphoma is currently based on chemotherapy with high-dose methotrexate combined with the other agents, mainly rituximab. Conclusion: Cerebral lymphoma remains a non-negligible entity of central nervous system tumors, which can be confused with several other tumors, mainly glial and meningioma.
ABSTRACT
Acute myocarditis represents one of the most mysterious acute cardiovascular diseases due to the great diversity of its clinical presentation, ranging from simple symptoms such as flu-like syndrome to lethal conditions such as cardiogenic shock or sudden cardiac death. The diagnosis will be suspicious in the presence of chest pain in a subject with risk factors, and guided mainly by the ECG, biological markers, trans-thoracic echocardiography, and the cardiac MRI. In this sense, and returning to the pathophysiological bases of this condition, the positive diagnosis will rely mainly on the detection of tissue abnormalities secondary to the myocardial inflammatory storm. Cardiac MRI represents a diagnostic pillar, given the information it can provide, both in analyzing the morphology, and the myocardial function but also tissue abnormalities that represent the main element of the diagnostic criteria of Lake Louisse.
