The Great Imitator Masquerading as Autoimmune Hepatitis and Demystifying as Fulminant Syphilitic Retinitis.

PURPOSE: Syphilis is a "Great Masquerader" because of its versatile clinical manifestations. We aim to report a patient whose first presentation was with presumed autoimmune hepatitis. Fulminant retinitis subsequently ensued, thus enabling correct diagnosis and treatment. METHODS: Case description. RESULTS: A 62-year-old male presented with bilateral drop in vision. One month earlier, right eye (RE) arteritic ischemic optic neuropathy was suspected because of severe headache, sudden drop in vision, relative afferent pupillary defect, and elevated inflammatory markers. Systemic steroids were instituted. Brain imaging and temporal artery biopsy were unyielding. Four months earlier, liver biopsy performed because of elevated cholestatic liver enzymes, revealed granulomatous hepatitis. After ruling out viral hepatitis, autoimmune etiology was presumed, and prednisone was started. On presentation, visual acuity (VA) was counting fingers in RE and 6/20 in the left eye (LE). Bilateral panuveitis with punctate inner retinitis, placoid chorioretinitis was diagnosed. Serological tests were strongly positive for syphilis. Lumbar puncture confirmed the existence of neurosyphilis. Systemic penicillin was initiated. One month later, VA improved to RE 6/10, LE 6/7.5, with marked resolution of posterior uveitis. No recurrence was observed over 27-month-period. CONCLUSION: Acquired syphilitic hepatitis is rarely reported. Administering steroids potentially aggravated the infection. The characteristic features of placoid chorioretinitis and punctate inner retinitis connected the pieces of the puzzle together to the diagnosis of ocular and neurosyphilis. Intrahepatic cholestasis with negative serological panel of hepatotropic pathogens should raise the suspicion of non-hepatotropic pathogens especially syphilis.

Ocular syphilis mimicking Vogt-Koyanagi-Harada syndrome: a diagnostic dilemma.

This case demonstrates the dilemma in the diagnosis of ocular syphilis, as it can mimic many other ocular conditions where initial steroid therapy might complicate the disease course and can worsen the infection. Also, it represents an example of anchoring bias, where a provisional diagnosis resulted in unnecessary treatment that would have worsened her clinical outcomes.

The Great Masquerader's New Wardrobe in the Modern Era: The Paraneoplastic Manifestations of Renal Cancer.

Paraneoplastic syndromes can occur in 8% to 20% of individuals with malignancies. They can occur in a variety of cancers that include breast, gastric, leukemia, lung, ovarian, pancreatic, prostate, testicular, as well as kidney. The classic presentation of the triad of mass, hematuria, and flank pain occurs in less than 15% of patients with renal cancer. Because of the protean presentations of renal cell cancer, it has been referred to as the internist's tumor or the great masquerader. This article will provide a review of the causes of these symptoms.

Metastatic gastric carcinoma to the eyelids masquerading as a chalazion: A case report.

Purpose: To describe an unusual case of metastatic gastric adenocarcinoma involving the eyelids and anterior orbit. Observations: An 82-year-old female with prior diagnosis of locally metastatic gastric adenocarcinoma developed eyelid edema. Initial ophthalmic assessment suggested presence of a chalazion that did not resolve with medical management. A few weeks after initial evaluation, the eyelid and facial edema worsened. Eyelid skin biopsy showed only inflammatory changes, but inflammatory work up was unrevealing and there was poor response to steroid therapy. Orbitotomy with biopsy ultimately revealed involvement of eyelid skin by a signet ring cell metastatic gastric carcinoma. Conclusions and importance: Eyelid and orbital metastasis from gastric adenocarcinoma may present mainly with inflammatory signs and symptoms masquerading as a chalazion. This case highlights the spectrum of presentation of this rare periocular metastasis.

Posterior mediastinal arteriovenous malformation: A rare catch.

An arteriovenous malformation (AVM) is a very rare differential diagnosis of a posterior Mediastinum mass. We report a patient with an AVM mimicking a mediastinal tumour and describe the radiological, pathological findings and the treatment options.

Ocular Syphilis With Phlebitis and Paravenous Pigmentary Retinopathy.

Purpose: Ocular syphilis can present as a wide variety of clinical phenotypes, among them panuveitis with vasculitis. Primary retinal phlebitis with resulting paravenous atrophy and pigmentary retinal degeneration is a rare presentation. Methods: A 53-year-old man presented with a 1-year history of bilateral blurry vision. Physical examination demonstrated bilateral anterior chamber and vitreous cell with vitreous haze, hyperemic optic nerves, and atrophic-appearing retina. The left eye demonstrated a nasal area of perivenular vascular sheathing with adjacent retinal whitening. Ancillary testing demonstrated predominantly perivenular leakage involvement. Results: Uveitic workup was positive for syphilis and HIV. The patient was treated with antiretroviral therapy and intravenous penicillin G. He developed progressive paravenous pigmentary changes and atrophy. Conclusions: Syphilis can present with a wide variety of phenotypic manifestations and should also be considered in patients presenting with acute retinal phlebitis or paravenous atrophy in long-standing cases.

Hepatic tuberculosis masquerading as malignancy.

BACKGROUND AND AIMS: Hepatic tuberculosis (HTB) is rare and mimics neoplastic liver lesions clinico-radiologically leading to misdiagnosis and even unnecessary surgery. METHODS AND MATERIAL: We analysed 43 cases of HTB diagnosed at a referral cancer centre over 10 years. Clinical details, investigations and treatment received were noted. RESULTS: The median age was 46 years with a female preponderance (58%). HTB was diagnosed incidentally in 28% cases during surveillance imaging for a previous cancer. Constitutional symptoms (31, 72%), abdominal pain (25, 58%), fever (12, 28%), hepatomegaly (22, 51%), elevated alkaline phosphatase (34, 79%), elevated aminotransferases (18, 42%) and hypoalbuminemia (19, 45%) were common features. All cases had negative HIV serology and normal tumor markers. Twenty-two (52.5%) had solitary liver lesion and lesions > 2 cm in 28 (65%). Ultrasound showed hypoechoic lesions in 31 of 33 cases. Computed tomography showed hypodense lesions (43,100%) with mild peripheral enhancement (32, 74%). Calcifications (5, 12%) and capsular retraction (8, 19%) was uncommon. MRI was performed in seven cases commonly showed T1 hypointense, T2 hyperintense lesions with restricted diffusion. Histopathology showed granulomatous inflammation (42, 97.5%), Langhan's giant cells (41, 95%) and caseation necrosis (35, 85%). Acid-fast stain and PCR positivity was uncommon. Extrahepatic organs were involved in 20 (46.5%). HTB mimicked cholangiocarcinoma (25, 58%), liver metastasis (11, 26%) and lymphoma (3, 7%). Six patients underwent liver resection with a presumptive diagnosis of cancer without a preoperative biopsy. All patients received antitubercular therapy, 37 had clinico-radiological response, there were 3 deaths and 3 patients were lost to follow-up. CONCLUSION: HTB is rare and can mimic a malignancy clinico-radiologically. Calcifications and pseudocapsule appearance on multiphase CT scan may help in differentiating HTB from hepatic malignancy. Tumor markers are normal while histopathology is generally diagnostic. A high index of suspicion is required to avoid unnecessary surgery as the patients respond well to ATT. TRIAL REGISTRATION: This is a retrospective and observational study hence clinical trial registration is not applicable.

Selective Hand Motor Cortex Lesions Masquerading as "Pseudoperipheral Nerve Palsy".

Strategic cortical lesions involving the hand motor cortex (HMC) presenting acutely as distal upper limb pure motor weakness certainly do need to be differentiated on clinical grounds from "pseudoperipheral palsy." This rare phenotype can imitate peripheral motor nerve deficits and should not be easily overlooked. The isolated "central hand and finger weakness" presenting as an acute onset of varying combinations such as pseudomedian, pseudoradial, and/or pseudoulnar nerve palsy is intriguing to the novice. In literature, this phenotype has been reported solely to result from cortical cerebral infarction and documented to occur in <1% of all ischemic strokes. The apropos of six "unforgettable patients" here highlights the heterogeneous pathophysiologic etiologies and mechanisms that included not only the conventional stroke risk factors but also hyperhomocysteinemia, common carotid artery thrombosis due to hyperhomocysteinemia and severe iron-deficiency anemia, biopsy-proven giant cell arteritis (GCA), cerebral metastasis, and dilated cardiomyopathy-related left ventricular thrombosis. Physicians and neurologists alike, as clinicians, need to be familiar with the peculiarities and clinical presentations of central hand control network cortical lesions.

Ocular syphilis mimicking Vogt-Koyanagi-Harada disease.

The study aimed to present a case of ocular syphilis mimicking Vogt-Koyanagi-Harada (VKH) disease. This is an observational case report. A 59-year-old female with Sicca syndrome and rheumatoid arthritis presented to the ophthalmologic department with blurred vision of the right eye for 5 days accompanied by color sensation loss in both eyes. Bilateral disc hyperemia and serous retinal detachment at the posterior pole were noted in her both eyes by fundus examination. Fluorescein angiography revealed bilateral late dye leakage from the disc and posterior choroid. Optical coherence tomography showed bilateral subretinal fluid and choroidal thickening. The impression of her condition was VKH disease initially. However, she was later diagnosed with bilateral ocular syphilis with optic neuritis which was proved by laboratory data. After appropriate antimicrobial agent treatment, her best-corrected visual acuity, serous retinal detachment, and disc hyperemia improved. There was no recurrent intraocular inflammation even without systemic steroid or immunosuppressive therapy control during the following 1 year. Ocular syphilis can mimic many other ocular inflammatory diseases including VKH disease. It is necessary to differentiate infectious causes from inflammatory origins due to the substantially different treatment and prognosis.

Retroperitoneal paraganglioma: a chameleon masquerading as an adrenal pheochromocytoma.

Retroperitoneal paragangliomas are rare tumours arising from neural crest cells located near or in the autonomic nervous system; right from the skull bass to the pelvic floor. Often called the great masqueraders, their diagnosis and treatment is often difficult and fraught with danger, considering the close proximity of these tumours to important retroperitoneal organs. A 29-year-old woman presented to the outpatient department with complaints of paroxysms of headache, sweating and palpitations for one year. She was found to have elevated urinary metadrenalines (metanephrines) and a suprarenal mass on contrast-enhanced computed tomography of the abdomen, which demonstrated increased tracer activity on I-131 iodine-123 meta-iodobenzylguanidine scintigraphy. Adrenal pheochromocytoma was diagnosed and she underwent laparoscopic adrenalectomy after stabilisation of her blood pressure. Laparoscopy revealed a large suprarenal mass with dense adhesions to the inferior vena cava that was carefully separated from the vein and surrounding structures. The cut section revealed a heterogeneous mass encasing a normal adrenal gland and histopathology confirmed the same, confirming the final diagnosis of retroperitoneal paraganglioma.

Research progress of genes of cerebral palsy / 中华实用儿科临床杂志

Cerebral palsy (CP) is the most common activity limitition of children, their movement and posture impairments persist throughout whole life.In recent years, CP has been significantly increasing with the improved survival rate of newborns.This may lead to a great burden and costs to both the family and the society.A variety of risk factors have been proposed to be associated with CP.However, recent abroad researches indicate that genetic factors may predispose to CP of newborns and initial results of related researches infer that several susceptibility genes may contribute to CP's development, masqueraders have a great impact on CP's clinical symptoms.Now, the recent publications related to virulence genes and masqueraders of CP are reviewed.