scholarly journals SPOAN syndrome: a novel mutation and new ocular findings; a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Fatemeh Bazvand ◽  
Mohammad Keramatipour ◽  
Hamid Riazi-Esfahani ◽  
Alireza Mahmoudi
Keyword(s):  
Case Report ◽  
Optic Atrophy ◽  
Novel Mutation ◽  
Retinal Pigment ◽  
Clinical Findings ◽  
Peripheral Retina ◽  
Spastic Paraplegia ◽  
Case Presentation ◽  
Full Field ◽  
Vascular Attenuation

Abstract Background To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy). Case presentation Clinical examination, genetic testing and electroretinography were used to study a 2-year-old child who was referred to our clinic with no visual attention and documented SPOAN syndrome. Fundoscopy revealed optic atrophy, diffuse retinal pigment mottling, severe vascular attenuation, and completely non-vascularized peripheral retina in both eyes. Full-field electroretinogram (ERG) revealed flat responses. Conclusions Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome.

scholarly journals A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature

2022 ◽  
Vol 2022 ◽  
pp. 1-5
Author(s):  
Ulrich Jehn ◽  
Cornelie Müller-Hofstede ◽  
Barbara Heitplatz ◽  
Veerle Van Marck ◽  
Stefan Reuter ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Alport Syndrome ◽  
Kidney Biopsy ◽  
Novel Mutation ◽  
Basement Membranes ◽  
Homozygous Mutation ◽  
Lamina Densa ◽  
Case Presentation ◽  
Hereditary Defect

Background. Alport syndrome results from a hereditary defect of collagen IV synthesis. This causes progressive glomerular disease, ocular abnormalities, and inner ear impairment. Case Presentation. Herein, we present a case of Alport syndrome in a 28-year-old woman caused by a novel mutation (Gly1436del) in the COL4A4 gene that was not unveiled until her first pregnancy. Within the 29th pregnancy week, our patient presented with massive proteinuria and nephrotic syndrome. Light microscopic examination of a kidney biopsy showed typical histological features of segmental sclerosis, and electron microscopy revealed extensive podocyte alterations as well as thickness of glomerular basement membranes with splitting of the lamina densa. One and a half years after childbirth, renal function deteriorated to a preterminal stage, whereas nephrotic syndrome subsided quickly after delivery. Conclusion. This case report highlights the awareness of atypical AS courses and emphasizes the importance of genetic testing in such cases.

scholarly journals Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Aleksandra Klimkowicz-Mrowiec ◽  
Anna Dziubek ◽  
Malgorzata Sado ◽  
Marek Karpiński ◽  
Agnieszka Gorzkowska
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Family History ◽  
Lower Limb ◽  
Hereditary Spastic Paraplegia ◽  
Novel Mutation ◽  
Family Members ◽  
Spastic Paraplegia ◽  
Limb Spasticity ◽  
Lower Limb Spasticity

Abstract Background Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicians often make incorrect or late diagnosis. Our aim was to investigate the genetic background and clinical phenotype of spastic paraplegia in large Polish family. Case presentation A 37 years old woman presented with 4-year history of walking difficulties. On neurological examination, she had signs of upper motor lesion in lower extremities. She denied sphincter dysfunction and her cognition was normal. Her family history was positive for individuals with gait problems. The initial diagnosis was familial spastic paraplegia. Genetic testing identified a novel mutation in SPAST gene. All available family members were examined and had genetic testing. The same mutation in SPAST gene was identified in other affected family members. All patients caring the mutation presented with different phenotypes. Conclusion This study presents a family with spastic paraplegia due to a novel mutation c.1390G›T(p.Glu464Term) in SPAST gene. Affected individuals showed a range of phenotypes that varied in their severity. This case report demonstrates, the signs of hereditary spastic paraplegia can be often misdiagnosed with other diseases. Therefore genetic testing should always be considered in patients with lower limb spasticity and positive family history in order to help to establish the correct diagnosis.

scholarly journals Bilateral peripapillary staphyloma: a case report

2019 ◽  
Author(s):  
Hong-cheng Gao ◽  
Meng Wang ◽  
Yaoyao Shi ◽  
Chen Chen
Keyword(s):  
Case Report ◽  
Optic Nerve ◽  
Visual Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Case Presentation ◽  
Poor Vision ◽  
Retinal Blood Vessels ◽  
Bilateral Case ◽  
Peripapillary Staphyloma

Abstract Background: The peripapillary staphyloma (PS) is a rare non-hereditary congenital optic disc dysplasia, which is generally unilateral and is likely to occur with poor vision. Fundus uncovered a large deeply excavated optic nerve head, retinal pigment epithelium changes at its edges and normal disc and retinal blood vessels in size and features. Case presentation: This literature present a bilateral case of an especially congential peripaillary staphyloma (CPS), which the patient with esotropia and nystagmus was exposed to abnormality when she was only 5-month-old. Several interesting features are present in this patient. Conclusions: Usually they have a large extent on visual loss. Thus, although extreme rare, an early detection, treatment and follow ups are necessary. Keywords: Staphyloma; optic nerve; congenital

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

2018 ◽  
Vol 154 (3) ◽  
pp. 119-121
Author(s):  
Ceren D. Durmaz ◽  
John McGrath ◽  
Lu Liu ◽  
Halil G. Karabulut
Keyword(s):  
Case Report ◽  
Frameshift Mutation ◽  
Stop Codon ◽  
Novel Mutation ◽  
Premature Stop Codon ◽  
Clinical Findings ◽  
Gorlin Syndrome ◽  
Focal Dermal Hypoplasia ◽  
Skeletal Defects ◽  
The Right

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot. These clinical findings were compatible with the diagnosis of FDH, and a novel mutation, NM_022825.3:c.488delG was found in the PORCN gene causing a premature stop codon.

scholarly journals Neo Adjuvant Chemotherapy on Testicular Cancer after Scrotal Exploration: A Case Report

2019 ◽  
Vol 7 (14) ◽  
pp. 2305-2308
Author(s):  
Andhika Hernawan Novianda ◽  
Fauriski Febrian Prapiska
Keyword(s):  
Case Report ◽  
Adjuvant Chemotherapy ◽  
Testicular Cancer ◽  
Rare Case ◽  
Palliative Chemotherapy ◽  
Clinical Findings ◽  
Case Presentation ◽  
Chemotherapy Drugs ◽  
Neo Adjuvant Chemotherapy ◽  
Yolk Sac Tumour

BACKGROUND: A case of testicular cancer treated with neo adjuvant therapy in a patient in male is rare. When testicular cancer presents, it is usually directly operated due to the size of cancer which presented within the order of operable size. CASE PRESENTATION: Here, we report a rare case of a 5-year-old male patient presented to the emergency room (ER) due to mass on the scrotum without the difficulty of urination. From clinical findings, mass with a size of 15 x 10 cm was found with multiple abscesses on both sides of the scrotum. Pathological Anatomy Examination confirmed yolk sac tumour present within the scrotal mass. Initially, palliative chemotherapy took place to reduce the growth rate of the tumour. However, due to the responsiveness of testicular cancer to chemotherapy drugs, it reduced into operable size testicular cancer. Wide excision and Orchidectomy was then performed, followed by adjuvant chemotherapy. CONCLUSION: This case report showed the possibility of using neo adjuvant chemotherapy as an alternative treatment when inoperable testicular cancer presented in hospital.

Folie Simultanée in Monozygotic Twins

1995 ◽  
Vol 40 (7) ◽  
pp. 418-420 ◽  
Author(s):  
Thomas G White
Keyword(s):  
Case Report ◽  
Monozygotic Twins ◽  
Clinical Findings ◽  
Rapid Progression ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Clinical Observations ◽  
Folie À Deux ◽  
The Common ◽  
Over Time

Objective To present a case report of folie simultanée in monozygotic twins. The literature describing folie à deux in twins is also reviewed and the common clinical findings are presented. Method Case presentation and review of the literature. Results Clinical observations of monozygotic twins with folie simultanée suggest that the delusions tend to progress over time with each twin reinforcing the delusion in the second. Conclusions The concept of a delusion resonating between individuals may account for the rapid progression and escalation of these delusions.

scholarly journals Acute Zonal Occult Outer Retinopathy with Atypical Findings

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Dimitrios Karagiannis ◽  
Georgios A. Kontadakis ◽  
Artemios S. Kandarakis ◽  
Nikolaos Markomichelakis ◽  
Ilias Georgalas ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Clinical Symptoms ◽  
Clinical Findings ◽  
Case Presentation ◽  
Full Field ◽  
Normal Limits ◽  
Corrected Distance Visual Acuity ◽  
Light Rise ◽  
The Right

Background. To report a case of acute zonal occult outer retinopathy (AZOOR) with atypical electrophysiology findings.Case Presentation. A 23-year-old-female presented with visual acuity deterioration in her right eye accompanied by photopsia bilaterally. Corrected distance visual acuity at presentation was 20/50 in the right eye and 20/20 in the left eye. Fundus examination was unremarkable. Visual field (VF) testing revealed a large scotoma. Pattern and full-field electroretinograms (PERG and ERG) revealed macular involvement associated with generalized retinal dysfunction. Electrooculogram (EOG) light rise and the Arden ratio were within normal limits bilaterally. The patient was diagnosed with AZOOR due to clinical findings, visual field defect, and ERG findings.Conclusion. This is a case of AZOOR with characteristic VF defects and clinical symptoms presenting with atypical EOG findings.

scholarly journals Atypical pityriasis rosea in a young Colombian woman. Case report

Case reports ◽  
2021 ◽  
Vol 7 (2) ◽  
pp. 8-21
Author(s):  
Julián Felipe Porras-Villamil ◽  
Angela Catalina Hinestroza ◽  
Gabriela Andrea López-Moreno ◽  
Doris Juliana Parra-Sepúlveda
Keyword(s):  
Case Report ◽  
Primary Care Physicians ◽  
Clinical Findings ◽  
Conclusive Evidence ◽  
Case Presentation ◽  
Pityriasis Rosea ◽  
Bipolar Ii ◽  
Patient Reported ◽  
History Of ◽  
Human Herpesviruses

Introduction: Pityriasis rosea is an acute and self-limited exanthemfirst described by Gilbert in 1860. Its treatment is symptomatic, and although there is no conclusive evidence, it has been associated with the reactivation of the human herpesviruses 6 and 7 (HHV-6 and HHV-7). Case presentation: A 28-year-old woman, from Bogotá, Colombia, ahealth worker, attended the emergency room due to the onset ofsymptoms that began 20 days earlier with the appearance of punctiformlesions in the left arm that later spread to the thorax, abdomen, opposite arm, and thighs. The patient reported a history of bipolar II disorder and retinal detachment. After ruling out several infectious diseases, and due to the evolution of the symptoms, pityriasis rosea was suspected. Therefore, treatment was started with deflazacort 30mg for 21 days, obtaining a favorable outcome and improvement of symptoms after 2 months. At the time of writing this case report, the patient had not consulted for recurrence. Conclusion: Primary care physicians should have sufficient training indermatology to recognize and treat dermatological diseases since manyof them are diagnosed based on clinical findings. This is an atypicalcase, in which the patient did not present with some of the pathognomonic signs associated with pityriasis rosea.

A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency

2019 ◽  
Vol 32 (7) ◽  
pp. 781-783
Author(s):  
Sevil Dorum ◽  
Ipek Güney Varal ◽  
Orhan Gorukmez ◽  
Pelin Dogan ◽  
Arzu Ekici
Keyword(s):  
Novel Mutation ◽  
Clinical Findings ◽  
Carnitine Palmitoyltransferase ◽  
Periventricular White Matter ◽  
Mri Findings ◽  
Case Presentation ◽  
Valve Insufficiency ◽  
Cranial Mri ◽  
Magnetic Resonance Imaging Mri

Abstract Background The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form. Case presentation The patient was hypotonic and bradycardic at admission. Blood urea nitrogen and creatinine were high. He had polycystic kidneys, patent foramen ovale and aortic valve insufficiency. Cranial magnetic resonance imaging (MRI) revealed increased signal intensities in the periventricular white matter. Tandem mass spectrometry (MS) analysis was compatible with CPT2D. We found a homozygous in-frame deletion in the CPT2 gene using next-generation sequencing. Conclusions We identified a novel mutation leading to the lethal form of CPT2D with polycystic kidney, cardiac malformation and cranial MRI findings. Our findings expand the spectrum of causative mutations and clinical findings in CPT2D.

scholarly journals Early Progressive Circumpapillary Lesion as Atypical Presentation of Multiple Evanescent White Dot Syndrome: A Case Report

2020 ◽  
Vol 11 (3) ◽  
pp. 546-552
Author(s):  
José Ignacio Vela ◽  
Clément Jean Arthur Marie Passabosc ◽  
José Antonio Buil Calvo
Keyword(s):  
Optical Coherence Tomography ◽  
Case Report ◽  
Early Stage ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Clinical Findings ◽  
Posterior Pole ◽  
Atypical Presentation ◽  
White Dot Syndrome ◽  
Optic Disc Swelling

Classical clinical findings of multiple evanescent white dot syndrome (MEWDS) include multiple, small white dots scattered throughout the posterior pole, foveal granularity, posterior vitreous cells, and mild optic disc swelling. We describe the case of a 35-year-old man who was admitted to our department with an unusual presentation of MEWDS at the early onset of the disease. A unilateral circumpapillary retinal white spot was observed. Spectral domain optical coherence tomography demonstrated irregularities of the retinal pigment epithelium and disruptions of the outer retinal layers around the optic nerve without other abnormalities. A few days later, the lesion spread centrifugally from the peripapillary region and along the vascular arcades. This distinctive appearance in an early stage of the disease may suggest a disorder other than MEWDS, which can lead to a misdiagnosis and unnecessary treatment.

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