Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

Purpose: To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as “Jalili Syndrome.” Design: Retrospective observational case series. Methods: Seven patients from 6 families with Jalili Syndrome were identified at 3 tertiary referral centers. We systematically reviewed their available medical records, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging (FAF), color fundus photography, and electrophysiological assessments. Results: The mean age at presentation was 6.7 years (range 3-16 years), with 6 male and 1 female patient. CNNM4 mutations were identified in all patients. The mean Snellen best-corrected visual acuity (BCVA) at presentation was 20/246 (range 20/98 to 20/399) in the right eye and 20/252 (range 20/98 to 20/480) in the left. Nystagmus was observed in all 7 patients, and photophobia was present in 6. Funduscopic findings at presentation were variable, ranging from only mild disc pallor to retinal vascular attenuation and macular atrophy. Multimodal imaging demonstrated disease progression in all 7 patients over time. Electroretinography uniformly revealed progressive cone-rod dysfunction. Conclusions: Jalili Syndrome is a rare CORD associated with AI. We have further characterized its ocular phenotype, including describing SD-OCT, FAF, and electrophysiological features; and report several novel disease-causing sequence variants. Moreover, this study presents novel longitudinal data demonstrating structural and functional progression over time, allowing better informed advice on prognosis

Rare images of renal mass and lithiasis in native kidney after renal transplantation in a patient with hematuria: Casual or correlated?

Renal transplantation is a common treatment option for patients with end-stage renal disease. The goal of transplantation is to restore normal renal function and improve their quality of life. However, some patients may experience complications after transplantation, including the development of calculi or tumors in their native kidneys. In such cases, the question arises whether native nephrectomy should be performed during renal transplantation or not. A 62-year-old patient with a history of renal transplant twenty years ago presented a macroscopic hematuria

Atypical cerebral MRI imaging findings in a patient with isolated neurosarcoidosis

Sarcoidosis is a rare, chronic, granulomatous disease of unknown etiology and primarily effects the lymphatic and respiratory systems. The central nervous system (CNS) is unusually implicated in sarcoidosis patients. We describe a rare magnetic resonance imaging (MRI) findings in a case of isolated neurosarcoidosis. The evaluation of suspect patients requires radiological imaging studies, especially MRIs. The diagnosis of neurosarcoidosis is clinically challenging, MRI studies are effective in detecting CNS inflammation but lack specificity

First application of next-generation sequencing in four families with Wilson disease in Morocco

Abstract Background Wilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, principally in the liver and brain. The disease can be manifested with hepatic, neurologic and ophthalmic signs and in a rare case with psychiatric, hematological, renal and skeletal signs; symptoms vary among and within families. Traditionally, Wilson disease was diagnosed on the basis of biochemical markers which include low ceruloplasmin levels and elevated urinary and hepatic copper. However, theses parameters are not specific and can been seen in other disorders. Genetic testing is now considering the most specific test allowing a precise diagnosis. In this study, we report the results of molecular analysis of four unrelated patients with Wilson disease from Morocco; we used a next-generation sequencing customized multigene panel to investigate the ATP7B gene for the four unrelated patients with Wilson disease. Results Genetic tests based on next-generation sequencing allow to the identification of four previously described variants. One in compound heterozygous state and three at homozygous state. Conclusions Our results confirm the clinical diagnosis of Wilson disease in these reported families and have implications for their genetic counselling and clinical management. Diagnosis of Wilson disease is a major challenge in clinical practice, and Genetic testing of ATP7B gene should be recommended in patients with suspected Wilson disease

Pancreas divisum causing recurrent pancreatitis in a young patient: A case report

Pancreas divisum (PD) is the most common congenital variant of the pancreatic ductal system, in which only a few patients develop symptomatic disease. Overall, PD is an underrecognized cause of many cases of recurrent acute pancreatitis. The PD must be systematically suspected in case of multiple episodes of acute idiopathic pancreatitis when exhaustive etiological investigations are negative. We present a 37-year-old woman whom presented several previous pancreatic pains. She came to the emergency department for epigastric pain, accompanied by post-prandial dietary vomiting after a copious meal. Lipasemia was greater than 3 times normal (498 UI/L). An abdominal computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP) showed a PD. The patient improved after the initial management measures. An endoscopic cholangiopancreatography was planned after the resolution of the acute episode. Recurrent pancreatitis is defined as 2 or more episodes of distinct acute pancreatitis with more than 3 months between episodes. Patients with this condition are usually asymptomatic while 5% of patients develop acute pancreatitis or chronic pancreatitis. We can underline the interest of deepening the radiological and endoscopic investigations to make the diagnosis of PD and to propose an endoscopic or surgical treatment, in order to avoid recurrences

Acute pulmonary embolism mimicking COVID-19 pneumonia

The case of 21-year-old man with an asthma history from childhood presenting severe respiratory distress associated with a right lower thoracic pain has been studied. The non–contrast Computed Tomography (CT)-chest scan showed a basal ground-glass opacity (GGO) of the right lung leading to suspicion of COVID-19 pneumonia. However, the molecular Reverse transcription polymerase chain reaction test and blood serology were negative while laboratory analyses revealed high levels of D-dimers (D-D). In addition, 2 repeated COVID-19 tests were negative. A thoracic CT angiography was disclosed due to the persistence of pain at the lower right thoracic side and hemoptysis that shows a bilateral distal pulmonary embolism with a right-sided basal subsegmental ischemia. We discuss a fortuitous discovery of pulmonary embolism associated with peripheral basal ground-glass opacities similar to radiological manifestations of SARS-CoV-2 pneumonia