Adult-onset Acute Calcific Discitis

2021 ◽  
pp. jrheum.210838
Author(s):  
Ilias Lazarou ◽  
Lucia Calisto Farracho ◽  
Stéphane Genevay ◽  
Michele Iudici
Keyword(s):  
Thoracic Spine ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Adult Onset

Acute calcific discitis is a rare condition of unknown etiology, observed mainly in childhood.1 Few cases have been described in adults, and most of these involve the thoracic spine.2

scholarly journals A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy with Pigmented Glia

1997 ◽  
Vol 24 (2) ◽  
pp. 146-150 ◽  
Author(s):  
P. Shannon ◽  
J.R. Wherrett ◽  
S. Nag
Keyword(s):  
White Matter ◽  
Rare Condition ◽  
Brain Biopsy ◽  
Hepatic Tissue ◽  
Cerebral White Matter ◽  
Unknown Etiology ◽  
Adult Onset ◽  
Ultrastructural Examination ◽  
Biopsy Material ◽  
The Brain

ABSTRACT:Background:Orthochromatic leukodystrophy with pigmented glia and scavenger cells is a rare leukodystrophy of unknown etiology. This report describes a 42-year-old man with a history of depression, dementia and parkinsonism having the pathological features of orthochromatic leukodystrophy with pigmented glia.Methods:We reviewed the clinical history and pathology of autopsy and brain biopsy material.Results:Imaging revealed bilateral cerebral white matter hypodensities. At autopsy, the brain demonstrated a leukodystrophy affecting predominantly the cerebral hemispheres and characterized by demyelination, and cytoplasmic pigment deposits in oligodendroglia and astrocytes. The pigment had the staining properties of ceroid-lipofuschin and on ultrastructural examination was composed of membrane-bound lipid and electron-dense inclusions which had a fingerprint-like pattern. Similar pigment inclusions were not observed on ultrastructural examination of renal, splenic or hepatic tissue obtained at autopsy. The brain biopsy contained cerebral cortex with sparse subcortical white matter in which a few oligodendroglia and fewer astrocytes at the grey/white junctions showed cytoplasmic pigmentary inclusions identical to those described above. However, due to the paucity of white matter in the specimen a definite diagnosis of orthochromatic leukodystrophy with pigmented glia was not made.Conclusions:The diagnosis of orthochromatic leukodystrophy with pigmented glia and scavenger cells can only be made antemortem if the brain biopsy contains adequate white matter and although a rare condition, it should be considered in the differential diagnosis of an adult onset leukodystrophy.

scholarly journals Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

Familial Pityriasis Rubra Pilaris: Case Report and Review

2013 ◽  
Vol 17 (4) ◽  
pp. 226-232 ◽  
Author(s):  
Joshua M. Mercer ◽  
Chitra Pushpanthan ◽  
Canagasundrum Anandakrishnan ◽  
Ian D.R. Landells
Keyword(s):  
Autosomal Dominant ◽  
Pediatric Population ◽  
Severe Disease ◽  
Topical Therapy ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Pityriasis Rubra Pilaris ◽  
Gradual Onset ◽  
Systemic Treatments ◽  
Appropriate Therapy

Background: Pityriasis rubra pilaris (PRP) is a rare dermatosis of unknown etiology. Most cases of PRP are sporadic; however, rare cases of familial PRP have been reported. Objectives: To present a case of PRP inherited in an autosomal dominant (AD) fashion and to evaluate the current literature on familial PRP and formulate a comprehensive, up-to-date summary of this rare condition. Methods: PubMed was used to conduct a search for articles pertaining to familial PRP published through May 2011. Results: The first documented case was published in 1910, and 36 subsequent familial cases of PRP have been reported. Familial PRP typically presents very early in childhood, has a gradual onset, and persists throughout life. Given the rarity of this subtype, determining the best therapy has been a challenge. In the pediatric population, a conservative treatment approach, including topical therapy, is frequently used, whereas systemic treatments are reserved for patients with a severe disease that is refractory to therapy. Conclusion: Rare cases of PRP inherited in an AD fashion have been described and tend to have a chronic clinical course and are treatment refractory. Therefore, the awareness of familial PRP is important for early and accurate diagnosis and administration of appropriate therapy.

scholarly journals Hemophagocytic lymphohistiocytosis in a patient with glioblastoma: a case report

CNS Oncology ◽  
2019 ◽  
Vol 8 (4) ◽  
pp. CNS45 ◽  
Author(s):  
Vaibhav Kumar ◽  
Patrick J Eulitt ◽  
Ana Bermudez ◽  
Simon Khagi
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Epstein Barr Virus ◽  
Hematologic Malignancy ◽  
Multiorgan Failure ◽  
Rare Condition ◽  
Solid Organ ◽  
Adult Onset ◽  
Barr Virus ◽  
Epstein Barr ◽  
High Index Of Suspicion

Adult onset hemophagocytic lymphohistiocytosis (HLH) is a rare condition, usually secondary to either a precipitating infective or hematologic malignancy. We present a case of Epstein–Barr virus associated HLH in a 55-year-old female receiving treatment for a glioblastoma (GBM). It is possible that HLH is under recognized, as patients with GBM often have features of a nonspecific systemic inflammatory response syndrome, multiorgan failure and cognitive decline. A high index of suspicion and increased awareness can help improve timeliness of diagnosis. Therapeutically, Epstein–Barr virus associated HLH in patients with solid organ malignancy poses significant challenges. An individualized, multidisciplinary approach is essential when managing adult-onset HLH and providers will need to be mindful of the high mortality rate despite treatment.

scholarly journals The importance of histopathology in the diagnosis of isolated renal sarcoidosis: a case report

2018 ◽  
Vol 40 (3) ◽  
pp. 291-295
Author(s):  
João Onofre Trindade Filho ◽  
Kaline Daniele de Souza Amaro ◽  
Allana Desirée Teixeira de Oliveira ◽  
Cecília Neta Alves Pegado Gomes ◽  
Hermann Ferreira Costa ◽  
...  
Keyword(s):  
Case Report ◽  
Medical Records ◽  
Clinical Laboratory ◽  
Histopathological Examination ◽  
Laboratory Data ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Renal Manifestation ◽  
Systemic Inflammatory Disease ◽  
Rule Out

ABSTRACT Introduction: Sarcoidosis is a systemic inflammatory disease of unknown etiology, characterized by the presence of non-caseating granulomas in several organs; renal impairment alone is a rare condition. When it affects the kidneys, the most prevalent manifestations are hypercalcemia and hypercalciuria. This paper aims to address the topic of renal sarcoidosis, by means of a case report, and reinstate the importance of histopathology in its diagnosis. Methods: The data came from an observational clinical study with a qualitative approach, through an interview with the renal sarcoidosis patient and data from her medical records. Case report: Patient D.M.S., 50 years old, Caucasian, presented with reddish eyes and body pains lasting for fifteen days as first manifestations of the disease. Upon kidney ultrasound scan, we found renal parenchymal nephropathy. Serial renal function and metabolic tests reported anemia and progressive urea and creatinine changes, as well as hypercalcemia and hypercalciuria, confirming acute kidney failure (AKF). A histopathological examination suggested the diagnosis, which was confirmed by clinical, laboratory and histopathological data. There was therapeutic resolution after steroid therapy. Discussion: The symptomatology of sarcoidosis is diverse and often non-specific. Renal manifestation, which usually occurs after organ involvement, is present in less than 5% of patients, and about 1% to 2% of these patients may develop AKF. Conclusions: The use of histopathology together with clinical and laboratory data to diagnose isolated renal sarcoidosis, rule out other etiologies and introduce early treatment is of paramount importance.

Multisystem Atrophy Made Worse by Lithium Treatment in a Hospice Patient

2012 ◽  
Vol 29 (7) ◽  
pp. 570-573 ◽  
Author(s):  
Ellen Babinsky ◽  
Richard S. Levene
Keyword(s):  
Bipolar Disorder ◽  
Cognitive Impairment ◽  
Clinical Course ◽  
Lithium Treatment ◽  
Unknown Etiology ◽  
Lithium Toxicity ◽  
Adult Onset ◽  
Presenting Symptoms ◽  
Multisystem Atrophy ◽  
Hospice Patient

Multisystem atrophy is a neurologic condition defined as an adult-onset, progressive, neurodegenerative disease of unknown etiology. It carries a multisystem clinical course, including autonomic, urogenital, cerebellar, and parkinsonian features. Lithium toxicity, classically manifesting as increased thirst, polyuria, gastric distress, weight gain, tremor, fatigue, and mild cognitive impairment, can present in a similar manner. 1 We would like to present a patient diagnosed with progressive neurologic features typical of multisystem atrophy that also had bipolar disorder and had been taking lithium for many years. Despite normal lithium levels, it appeared as though a subclinical lithium toxicity was manifesting in the patient, and once lithium was discontinued, the patient was discharged from hospice with significant improvement in his presenting symptoms.

scholarly journals Adult Onset Still’s Disease: A Review on Diagnostic Workup and Treatment Options

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Rajesh Gopalarathinam ◽  
Eric Orlowsky ◽  
Ramesh Kesavalu ◽  
Sreeteja Yelaminchili
Keyword(s):  
Diagnostic Workup ◽  
Differential Diagnoses ◽  
Treatment Modalities ◽  
Adult Onset Still’S Disease ◽  
Unknown Etiology ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Systemic Inflammatory Disease ◽  
Adult Onset Still's Disease

Adult onset Still’s disease (AOSD) is a rare systemic inflammatory disease of unknown etiology and pathogenesis that presents in 5 to 10% of patients as fever of unknown origin (FUO) accompanied by systemic manifestations. We report an interesting case of a 33-year-old African-American male who presented with one-month duration of FUO along with skin rash, sore throat, and arthralgia. After extensive workup, potential differential diagnoses were ruled out and the patient was diagnosed with AOSD based on the Yamaguchi criteria. The case history, incidence, pathogenesis, clinical manifestations, differential diagnoses, diagnostic workup, treatment modalities, and prognosis of AOSD are discussed in this case report.

scholarly journals Acute, Nontraumatic Spontaneous Spinal Subdural Hematoma: A Case Report and Systematic Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-12
Author(s):  
Leigh A. Rettenmaier ◽  
Marshall T. Holland ◽  
Taylor J. Abel
Keyword(s):  
Systematic Review ◽  
Subdural Hematoma ◽  
Rare Condition ◽  
Acute Onset ◽  
Neurological Deficits ◽  
Unknown Etiology ◽  
Neurological Outcomes ◽  
Poor Neurological Outcome ◽  
Spinal Subdural Hematoma ◽  
Significant Disability

Spontaneous spinal subdural hematoma (sSDH) is a rare condition outright. Moreover, cases that occur spontaneously in the absence of an identifiable etiology are considerably less common and remain poorly understood. Here, we present the case of a 43-year-old man with spontaneous sSDH presenting with acute onset low back pain and paraplegia. Urgent magnetic resonance imaging identified a dorsal SDH from T8 to T11 with compression of the spinal cord. Emergent T8–T10 laminectomies with intradural exploration and hematoma evacuation were performed. However, despite prompt identification and appropriate action, the patient’s recovery was modest and significant disability remained at discharge. This unique and unusual case demonstrates that spontaneous sSDH requires prompt surgical treatment to minimize associated morbidity and supports the association between the presence of severe neurological deficits upon initial presentation with less favorable outcomes. We performed a comprehensive systematic review of spontaneous sSDH of unknown etiology, which demonstrates that emergent surgical intervention is indicated for patients presenting with severe neurological deficits and the presence of these deficits is predictive of poor neurological outcome. Furthermore, conservative management should be considered in patients presenting with mild neurological deficits as spontaneous resolution followed by favorable neurological outcomes is often observed in these patients.

scholarly journals Tolosa-Hunt: Case Report

2021 ◽  
Author(s):  
Lília Tereza Diniz Nunes ◽  
Flávia S. Silva ◽  
Karyme G. Aota ◽  
Maria Beatriz Miranda S. B. de Assis ◽  
João Fellipe B. Bento ◽  
...  
Keyword(s):  
Case Report ◽  
Cavernous Sinus ◽  
Clinical Care ◽  
Cranial Nerves ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Specific Diagnosis ◽  
Hunt Syndrome ◽  
Diagnosis By Exclusion ◽  
History Of

Context: Tolosa-Hunt Syndrome (STH) is a rare condition with unknown etiology, it affects both genders equally. It is manifested by inflammation of the cavernous sinus and involvement of some cranial nerves pairs. Case report: MSR, 39 years, male, diver in the mining zone, history of recurrent otitis with acute pain and gradual hearing loss that progressed. He was admitted to the General Hospital of Palmas with symptoms of retrorbital headache. After physical exams it was found an ophthalmoplegia with right amaurosis and ipsilateral pain. The neurological examination showed a right eye with loss of photomotor reflex and presence of consensual reflex and eyelid ptosis. After 38 days in hospital, a probable septic thrombosis of the cavernous sinus was found, antibiotic and corticosteroids therapy was initiated. The patient also reports significant improvement in headache and partially in vision, he is currently hospitalized with clinical care and antibiotic therapy, awaiting results of the image examination report. Conclusions: Painful ophthalmoplegia in most cases is not diagnosed as STH. The differential diagnosis for this pathology is most often through brain magnetic ressonance and the ICHD-3 beta diagnostic criteria, STH should be suspected, but it is still necessary to close the diagnosis by exclusion, due to the lack of a specific diagnosis.

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