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Highlights • Obstructive jaundice may be a challenge for differential diagnosis. • Mirizzi Syndrome may simulate clinical and radiological presentation of common bile duct stones. • ERCP hardly achieves cannulation of biliary duct in altered anatomy, so gastroscope may be a correct choice in these cases. • Surgical treatment is essential in Mirizzi Syndrome., Introduction Mirizzi Syndrome (MS) is a common bile duct (CBD) obstruction caused by extrinsic compression from an impacted stone in the cystic duct or infundibulum of the gallbladder. Radiological evaluation may mistake it for CBD stones in jaundiced patient, especially in those who have altered anatomy of upper gastrointestinal (e.g. sub-total gastrectomy – STG – with Billroth I or II anastomosis). Presentation of case A 69-year-old male with a history of STG Billroth-II 25 years prior, accessed hospital for abdominal pain and jaundice with increasing in hepatic laboratory tests. Ultrasound of abdomen, CT scan and MRCP diagnosed CBD stones, so endoscopic retrograde cholangiopancreatography (ERCP) was performed, using a gastroscope to reach papillary region and to achieve cannulation of biliary duct. During cholangiography patient resulted affected by Mirizzi syndrome type I, so laparoscopic cholecystectomy was performed and cystic duct was moved away. Discussion This rare case shows how it’s easy to delay the correct treatment when a wrong radiological diagnosis is made. Moreover, ERCP remains a challenging procedure in patients with altered anatomy, such as STG B–II, and in this case gastroscope was needed for cannulation, due to the need of frontal view. Conclusion This rare case report highlights the importance of not forgetting MS in the differential diagnosis of biliary obstruction, especially in those patients with upper GI altered anatomy. Physicians with expertise in ERCP should always consider altered anatomy as a factor which may confuse radiologist in diagnosis, so in this case MS may be discovered or confirmed at ERCP.

Mirizzi syndrome (MS) is a common bile duct (CBD) obstruction caused by extrinsic compression from an impacted stone in the cystic duct or infundibulum of the gallbladder. Patients affected by MS may present abdominal pain and jaundice. A 37-year-old male with neurologic residuals post-encephalitis arrived at the emergency department reporting abdominal pain, jaundice and fever. An ultrasound of the abdomen identified cholecystolithiasis with a dilated CBD. He did not undergo CT or MRI due to poor compliance and parents’ disagreement. Eventually, they accepted to perform endoscopic retrograde cholangiopancreatography, which diagnosed MS with both cholecystobiliary and cholecystocolonic fistula without gallstone ileum (type Va). Therefore, patient underwent cholecystectomy, wedge resection of the colon and choledochoplasty with ‘Kehr's T-tube’ insertion. A plastic biliary stent was successively placed and removed after 4 month. Ultimately, he did neither complain any other biliary symptoms nor alteration in laboratory tests after 4-years of follow-up.

Background Enhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in a nuclear receptor gene (NR2E3) that leads to alteration in cells development from rod to S-cone. This retinal dystrophy may be associated with retinal schisis. The aim of this report is to describe structural optical coherence tomography and optical coherence tomography angiography features in a case of enhanced S-cone syndrome associated with macular schisis. Case presentation A Caucasian 13-year-old girl underwent measurement of best corrected visual acuity, ophthalmoscopic evaluation, and fundus autofluorescence examination. Photopic and scotopic electroretinography were carried out as well. Enhanced S-cone syndrome was suspected on the basis of clinical and electrophysiological findings. Structural optical coherence tomography and optical coherence tomography angiography allowed the further characterization of the associated macular schisis. Genetic analysis not only confirmed the diagnosis but increased the clinical novelty of this case report by showing two variations in the NR2E3 gene probably related to the phenotype: a missense variation c.1118T>C which leads to the substitution of leucine with proline in amino acid position 373, and c.349+5G>C, which involves a gene sequence near a splicing site. Conclusions Swept source structural optical coherence tomography (B scans and “en face” images) and optical coherence tomography angiography allowed the observation of retinal structural details and the involvement of each retinal layer and capillary plexus in enhanced S-cone syndrome. Of interest, neither of the two NR2E3 gene variants found in this case report have been linked to any form of retinopathy.

The high-energy demands of the retina are thought to contribute to its particular vulnerability to mitochondrial dysfunction. Photoreceptors are the cells with the higher oxygen consumption within the retina, and among these, the cones contain more mitochondria and have a higher energy demand than rods. A cohort of twenty-two patients with genetically-defined mitochondrial diseases (MDs) were enrolled to determine if the macula is functionally and anatomically impaired in these metabolic disorders. Visual acuity and fERG amplitude of patients with primary mitochondrial dysfunction were reduced compared to controls. Furthermore, SD-OCT layer segmentation showed a reduction of retinal and outer nuclear layer (ONL) volume in the macula of the patients. fERG amplitude showed a positive correlation with both ONL volume and thickness. A negative relationship was noted between fERG amplitude and disease severity assessed with Newcastle Mitochondrial Disease Adult Scale. In conclusion, MDs are associated with functional and anatomical alteration of macular cone system, characterized by its strong correlation with clinical disease severity suggesting a role as a potential biomarker of primary mitochondrial disorders.

BACKGROUND: Preclinical trials have shown beneficial effects of nerve growth factor (NGF) administration on visual function in animal models of retinitis pigmentosa (RP). The aim of this pilot study was to explore the potential efficacy of short term NGF eye drops treatment in patients affected by RP. METHODS: The trial consisted in 10 days daily administration of murine NGF as eye-drops for a total dose of 1 mg NGF/pt. Eight RP patients at an advanced stage of the disease were included in the trial. To monitor safety and potential adverse effects subjects underwent standard clinical measures and were requested to report any general or topic alterations following NGF assumption. Retinal function was assessed at baseline and after treatment by best-corrected visual acuity measurement (BCVA), macular focal electroretinogram (fERG) recording and Goldmann visual field testing. RESULTS: A transient tolerable local corneal irritation was the only adverse effect reported. fERG and BCVA remained within the limits determined by test-retest analysis of a large cohort of RP patients. Three patients reported a subjective feeling of improved visual performance. This was associated to a temporary enlargement of the visual field in all three patients and to improved fERG in two of the three. CONCLUSIONS: Short-term administration of NGF eye-drops caused neither significant adverse effects nor visual function losses in the tested RP patients. A minority of patients experienced an improvement of visual performance as shown by Goldmann visual field and fERG. This study supports the safety and possible efficacy of NGF eye-drops administration in RP patients. TRIAL REGISTRATION: EudraCT n. 2008-004561-26.

The online version of the original article can be found under doi:10.1186/s12967-015-0750-3.