Atypical Syndrome Research Articles

Acute Syphilitic Outer Retinopathy Masquerading as Atypical White Dot Syndrome

A 51-year-old man presented with blurred vision (20/40) in his left eye for 2 weeks. Visual acuity in his right eye was unaffected (20/20). Fundoscopy exhibited mild vitritis, blurred disc margins, and multiple subtle, deep, small, creamy white dots extending to the retinal midperiphery (Fig A), with corresponding multifocal hyperautofluorescence (Fig B) bilaterally. A positive rapid plasma reagent and syphilis-specific antibody test (enzyme immunoassay) established the diagnosis of syphilitic outer retinopathy (SOR).

A Case of Atypical Capsular Warning Syndrome of Long Duration

A Case of Atypical Capsular Warning Syndrome of Long Duration

Atypical Gradenigo Syndrome in an Elderly Man Resolved with Mastoidectomy and Petrous Apicectomy.

Gradenigo syndrome (GS) was described primarily in the paediatric population, especially in the pre-antibiotic era. GS is rarely reported in the elderly population, especially in the post-antibiotic era. We present the rare case of a 67-year-old man who presented with an incomplete triad of symptoms (without abducens nerve palsy) of GS that failed medical therapy and was successfully treated with surgical intervention (mastoidectomy and petrous apicectomy). Physicians should be familiar with atypical presenting symptoms of GS as it can lead to life-threatening complications, especially in the elderly. GS cases resistant to medical therapy may require prompt appropriate imaging studies and surgical intervention.LEARNING POINTSGradenigo syndrome may present with an incomplete triad (without abducens nerve palsy), especially in the post-antibiotic era.Gradenigo syndrome can rarely affect immunocompromised elderly patients.Gradenigo syndrome cases resistant to medical therapy may require prompt appropriate imaging studies and surgical intervention (mastoidectomy and petrous apicectomy).

Atypical Gradenigo Syndrome in an Elderly Man Resolved with Mastoidectomy and Petrous Apicectomy

Gradenigo syndrome (GS) was described primarily in the paediatric population, especially in the pre-antibiotic era. GS is rarely reported in the elderly population, especially in the post-antibiotic era. We present the rare case of a 67-year-old man who presented with an incomplete triad of symptoms (without abducens nerve palsy) of GS that failed medical therapy and was successfully treated with surgical intervention (mastoidectomy and petrous apicectomy). Physicians should be familiar with atypical presenting symptoms of GS as it can lead to life-threatening complications, especially in the elderly. GS cases resistant to medical therapy may require prompt appropriate imaging studies and surgical intervention.

Centrifugal propagation of the circumpapillary lesion in a patient with atypical multiple evanescent white dot syndrome

A 20-year-old woman presented with central scotoma in her left eye. Whitish retinal spots were observed mainly in the region nasal to the optic disk outside the major vascular arcade. Optical coherence tomography revealed subfoveal outer retinal disruption with hyperreflective material. Retinal spots coalesced into a larger lesion and progressed peripherally. Nasal retinal spots and foveal outer retinal lesion improved spontaneously, and her vision was completely recovered. The current case suggests that sequential sublethal infection of photoreceptors possibly via blood-borne pathogens and spreading to the nearby cells may be the possible alternative mechanism of multiple evanescent white dot syndrome pathophysiology.

Atypical Parkinson's syndrome in old age

Atypical Parkinson syndromes represent aneuropathologically heterogeneous group and include the clinical entities dementia with Lewy bodies (DLB), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). The DLB and MSA are characterized by deposition of the protein alpha-synuclein (synucleinopathy), PSP and CBD are characterized by deposition of tau protein, often in the form of neurofibrillary tangles in nerve and glial cells (tauopathy). Misfolding and aggregation of the aforementioned proteins causes degeneration of the affected cell populations but the disease also spreads to anatomically neighboring brain regions, thus contributing to disease progression. The clinical characteristics (poor response to dopaminergic treatment, ataxia, apraxia, vertical gaze palsy and rapid progression) enable a differentiation from idiopathic Parkinson's disease.

Hepatocyte nuclear factors play an important role in the pathogenesis of nephropathy

Hepatocyte nuclear factors play an important role in the pathogenesis of nephropathy

POST PARTUM HYPERTENSIVE EMERGENCY REVEALING ATYPICAL HEMOLYTIC AND URAEMIC SYNDROME IN TWO SISTERS

Objective: Hemolytic uremic syndrome (HUS) is a rare and severe form of thrombotic microangiopathy (TMA) associated with a poor renal prognosis. Atypical hemolytic uraemic syndrome (aHUS) is a form of HUS that has been clearly associated with genetic susceptibility factors related to complement regulation. Pregnancy- and postpartum-associated HUS is now considered as a part of spectrum of complement-mediated HUS. AHUS is a rare cause of malignant hypertension. For this reason we report 02 cases of postpartum aHUS observed in nephrology department. Design and method: We analyzed retrospectively the presentation and outcome of 02 sisters who had a malignant hypertension in the period of post-partum with features of hemolytic and uremic syndrome. Results: In the two cases, it was a clinical presentation of malignant hypertension needing intravenous treatment with nicardipine associated with severe acute kidney injury (AKI) requiring dialysis at presentation (table). We underwent plasma exchanges as first-line therapy then relayed by plasma infusions. Kidney biopsy performed in the first sister whose diagnosed in 2018 (with normal platelet count) showed typical features of thrombotic microangiopathy.Complement component assays showed low Factor H (<10%) in 02 cases. They evolved to chronic kidney disease and they have always a severe blood pressure although the combination of 5 antihypertensive medications. Conclusions: Post partum -related atypical HUS is a very severe disease, with a poor kidney prognosis and without specific efficacious treatment. Familial aHUS is very rare entity. We reported 02 cases of malignant hypertension which is highly prevalent in this population and it dominates the clinical presentation.

Acute Coronary Syndrome in Patients with Diabetes mellitus: Features of the Course and Manifestations of Pain Syndrome

Acute coronary syndrome (ACS) remains a common cause of hospitalization for patients with diabetes mellitus (DM). Due to development of diabetic neuropathy, it is believed that this category of patients is characterized by a high frequency of atypical acute coronary syndrome, but data on this are quite contradictory. The objective: to determine the features of the pain syndrome and its severity in patients with acute coronary syndrome and concomitant diabetes. Materials and methods. The study involved 36 patients with diabetes (22 men and 14 women) aged 44–86 years, hospitalized urgently for ACS. Pain syndrome was assessed at the time of hospitalization and immediately after coronary artery revascularization according to the following criteria: visual analog scale (VAS), Numerical Rating Scale (NRS), clinical data, and biochemical markers. Results. The majority of patients (91.67%) at the time of hospitalization complained of chest pain, the rest were not bothered by any pain. During the survey, patients described pain as «burning» (30.56%), «squeezing» (30.56%), «squeezing» (25.0%), «tingling» (5.56%). There were also complaints of difficulty breathing (13.89%), shortness of breath (11.1%), palpitations (41.67%). The appearance of excessive sweating was noticed by 16.67% of patients. There was no statistically significant difference between the results of pain assessment by VAS and NRS (p>0.1). The average value of glycemia at the time of hospitalization was 8.19±3.45 mmol/l (men – 8.17±3.61 mmol/l, women – 8.28±3.13 mmol/l). Glycemia greater than 10.0 mmol/l was detected in 8 patients, which was 22.22% of all patients. This category of patients was dominated by patients with severe pain (62.5%). Conclusions. In patients with ACS and diabetes, the typical clinical picture of ACS prevailed (91.67% of patients) over the painless form. Prior to revascularization, moderate and severe pain occurred with equal frequency; there is no statistical difference between blood pressure, heart rate and glycemia (p>0.1) in patients with severe and moderate pain. Hyperglycemia (≥10.0 mmol/l) was found in 22.22%, among this category of patients was dominated by patients with severe pain.

Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant.

ObjectiveTo describe a Filipino patient with adult-onset Sandhoff disease manifesting with an atypical asymmetric lower motor neuron syndrome due to a novel whole HEXB deletion in trans with a pathogenic missense variant and with a coexisting MYH7 pathogenic variant.MethodsWe performed clinical, laboratory, myopathologic, and genetic evaluation with next-generation sequencing in the proband and targeted mutational analysis in an asymptomatic sibling.ResultsA 59-year-old Filipino woman presented with 15 years of slowly progressive, asymmetric, proximal-predominant, lower greater than upper extremity weakness, mildly elevated creatine kinase, and generalized cerebellar atrophy. Serum total β-hexosaminidase was significantly reduced, and hexosaminidase A percentage was increased. We identified a novel HEXB whole gene deletion in compound heterozygosity with a pathogenic missense variant (c.1513C>T, p.Arg505Trp) previously described in 1 patient with adult-onset Sandhoff disease. The patient, with a family history of cardiomyopathy, has a coexisting MYH7 pathogenic variant (c.3134G>A, p.Arg1045His), causative of cardiomyopathy but without cardiac involvement, likely due to variable penetrance. Myopathic features were absent from skeletal muscle biopsy.DiscussionThis patient expands the genotypic, phenotypic, and ethnic spectrum of Sandhoff disease and highlights challenges generated by low-penetrant pathogenic variants, especially when considering a potentially polygenic phenotype.

Atypical Os trigonum syndrome: a case of FHL entrapment

<p class="abstract">Os trigonum is an accessory bony growth from posterior aspect of talus, which presents as swelling and pain behind the ankle causing hinderance to daily activities secondary to impingement. The overuse of ankle with repetitive stress on plantar flexion is usually seen in ballet dancers. Unusual cases can be seen irrespective of the profession and can be symptomatic. Sometimes symptomatic patients may improve with activity modification and rest. Syndromic involvement is featured by entrapment of FHL tendon. In that case, excision of the mass with entrapment release can improve the functional outcome.</p>

Complement Mediated Endothelial Damage in Thrombotic Microangiopathies.

Thrombotic microangiopathies (TMA) constitute a group of different disorders that have a common underlying mechanism: the endothelial damage. These disorders may exhibit different mechanisms of endothelial injury depending on the pathological trigger. However, over the last decades, the potential role of the complement system (CS) has gained prominence in their pathogenesis. This is partly due to the great efficacy of complement-inhibitors in atypical hemolytic syndrome (aHUS), a TMA form where the primary defect is an alternative complement pathway dysregulation over endothelial cells (genetic and/or adquired). Complement involvement has also been demonstrated in other forms of TMA, such as thrombotic thrombocytopenic purpura (TTP) and in Shiga toxin-producing Escherichia coli hemolytic uremic syndrome (STEC-HUS), as well as in secondary TMAs, in which complement activation occurs in the context of other diseases. However, at present, there is scarce evidence about the efficacy of complement-targeted therapies in these entities. The relationship between complement dysregulation and endothelial damage as the main causes of TMA will be reviewed here. Moreover, the different clinical trials evaluating the use of complement-inhibitors for the treatment of patients suffering from different TMA-associated disorders are summarized, as a clear example of the entry into a new era of personalized medicine in its management.

Atypical Cogan syndrome as adifferential diagnosis of sudden sensorineural hearing loss

CoganI syndrome is arare disease consisting of vestibulocochlear symptoms and non-syphilitic interstitial keratitis. Although this disease was first described in1945, its pathogenesis is still unknown. An autoimmune vasculitis etiology is currently discussed. Atypical manifestations are characterized by delayed ocular symptoms or variability of inflammatory eye symptoms. Physical examination often reveals bilateral sensorineural hearing loss. Intratympanic corticosteroid application can be successful.

Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation

PurposeSARS-CoV-2 infection may cause varying degrees of cardiac injury and the presence of underlying cardiovascular morbidities contributes to the frequency and severity of occurrence of this complication.Lipodystrophy syndromes are frequently characterized by severe metabolic derangements that represent relevant cardiovascular risk factors. Besides causing lipodystrophy, mutations in the lamin A/C (LMNA) gene can lead to a wide spectrum of tissue-specific disorders including cardiac involvement.Methods and resultsWe herein examine the case of two patients affected by atypical progeroid syndrome and partial lipodystrophy due to a heterozygous missense LMNA mutation c.1045 C > T (p.R349W) who presented initially with mild COVID-19 and developed severe cardiovascular complications within few weeks of SARS-CoV-2 infection. Before being infected with SARS-CoV-2, our patients had cardiovascular morbidities (mild mitral regurgitation in one patient, ischemic heart disease with bifascicular block in the other patient) in adjunct to cardiovascular risk factors, but the SARS-CoV-2 infection contributed to quickly and significantly decompensate their balance.ConclusionThese findings warn that patients affected by LMNA p.R349W mutation and likely other LMNA mutations associated with cardiovascular morbidity should be considered at extremely elevated risk of post-acute cardiological manifestations and should therefore undergo a vigilant follow-up after SARS-CoV-2 infection. Both patients developed COVID-19 before the specific vaccination was available to them and this unfortunate situation should remark the importance of vaccination coverage against SARS-CoV-2 infection for all patients affected by lipodystrophy, especially those with underlying comorbidities.

Atypical OHVIRA syndrome: cases of chronic discharge

Background: Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) is a rare congenital syndrome that is difficult to diagnosis. Women typically present after menarche with dysmenorrhea and pelvic pain, and eventually have diagnostic imaging. Patients with unrecognized OHVIRA syndrome can develop infection, endometriosis, infertility, and pregnancy complications. In the following cases, chronic vaginal discharge was a key symptom for further work up and diagnosis.

COVID-19 atypical Parsonage-Turner syndrome: a case report

BackgroundNeurological manifestations of Sars-CoV-2 infection have been described since March 2020 and include both central and peripheral nervous system manifestations. Neurological symptoms, such as headache or persistent loss of smell and taste, have also been documented in COVID-19 long-haulers. Moreover, long lasting fatigue, mild cognitive impairment and sleep disorders appear to be frequent long term neurological manifestations after hospitalization due to COVID-19. Less is known in relation to peripheral nerve injury related to Sars-CoV-2 infection.Case presentationWe report the case of a 47-year-old female presenting with a unilateral chest pain radiating to the left arm lasting for more than two months after recovery from Sars-CoV-2 infection. After referral to our post-acute outpatient service for COVID-19 long haulers, she was diagnosed with a unilateral, atypical, pure sensory brachial plexus neuritis potentially related to COVID-19, which occurred during the acute phase of a mild Sars-CoV-2 infection and persisted for months after resolution of the infection.ConclusionsWe presented a case of atypical Parsonage-Turner syndrome potentially triggered by Sars-CoV-2 infection, with symptoms and repercussion lasting after viral clearance. A direct involvement of the virus remains uncertain, and the physiopathology is unclear. The treatment of COVID-19 and its long-term consequences represents a relatively new challenge for clinicians and health care providers. A multidisciplinary approach to following-up COVID-19 survivors is strongly advised.

Atypical Wiskott-Aldrich syndrome without thrombocytopenia partially responding to omalizumab therapy.

Primary immunodeficiencies with eczema can be easily misdiagnosed as atopic eczema, and thus require a high degree of awareness for diagnosis. Wiskott-Aldrich syndrome (WAS) is a rare disease and the fact that WAS without microthrombocytopenia has not been reported to date makes this case more interesting. As the patient's predominant problem was eczema and he had high circulating IgE antibodies in his serum, omalizumab was chosen as an appropriate steroid-sparing treatment option, as it has been shown to be effective in previous studies.

EP152: A case of atypical Crouzon syndrome with congenital diaphragmatic hernia

Crouzon syndrome is an autosomal dominant condition characterized by craniosynostosis and distinctive facial features. Pathogenic variants in the gene encoding fibroblast growth factor receptor type 2 (FGFR2), localized in two exons (termed IIIa and IIIc) account for the majority of classic cases. Here we describe a case with a pathogenic variant affecting the tyrosine kinase domain of the FGFR2 presenting with atypical clinical features.

EP250: Molecular findings in patients with atypical Sturge-Weber syndrome

This study aimed to assess genetic variation which can underlie the vascular malformations in patients presenting for evaluation of Sturge-Weber syndrome (SWS), and to broaden our understanding of related genes and variations.

Sulfasalazine induced atypical drug reaction with eosinophilia and systemic symptoms syndrome: a case report

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a type IV b hypersensitivity reaction characterized by cutaneous manifestations, fever, lymphadenopathy, hematologic abnormalities, and multiple organ manifestations. We report a case of sulfasalazine induced DRESS syndrome who was admitted with a complaint of morbilliform rash all over the body, a fever of 100oF, and severe abdominal pain. Initially the patient did not mention about intake of sulfasalazine while taking the drug history as he could not remember the past medication. The laboratory investigations revealed elevated eosinophils, WBC, and liver function tests. The patient was treated with antibiotics assuming tropical infection, but the patient’s condition was not improving. Later while taking proper drug history from a patient representative over the telephone revealed that the patient was in 4th week of tablet sulfasalazine 500 mg treatment for polyarthritis. Further, the J-SCAR scale was used to diagnose it as Sulfasalazine induced atypical DRESS syndrome. The patient was treated with topical and intravenous corticosteroids and antihistamine; the patient exhibited surprising symptomatic improvement. The patient was given a tapering dose of oral corticosteroid tablet prednisolone 20 mg for three weeks and topical corticosteroid mometasone lotion for two weeks upon discharge.