scholarly journals Lipoid Proteinosis presenting as beaded papules of the eyelid: report of three cases

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhenyu Wei ◽  
Antoine Labbe ◽  
Qingfeng Liang
Keyword(s):  
Gene Sequence ◽  
Inherited Disease ◽  
Case Presentation ◽  
Ocular Irritation ◽  
Lipoid Proteinosis ◽  
Gene Sequence Analysis ◽  
Clinical Presentations ◽  
History Of ◽  
Histological Characteristics

Abstract Background Lipoid proteinosis (LP) is a rare multisystem inherited disease. We report here in three LP cases with beaded papules of the eyelid. Their clinical presentations, histological characteristics, and genetic findings are described and discussed. Case presentation A 12-year-old boy reported to our hospital with a complaint of ocular irritation, redness, and tearing for two years. He had a history of hoarseness since childhood. His younger brother (5 years old) also complained of hoarseness. Another patient, a 26-year-old woman, described many beaded papules on the edge of her eyelids since age 11 years. She additionally reported hoarseness since 4 years of age. Careful slit-lamp examination in these cases revealed waxy beaded papules on the margins of both eyelids and mild conjunctival congestion. Physical examination showed irregular, rugged scars on their facial skin. Genetic analysis showed the mutation located in exon 6 of the ECM1 gene. Conclusions Three LP cases first diagnosed by ophthalmologists are presented. The presence of eyelid papules should prompt the ophthalmologist to pay close attention to the patient’s voice. If there is a definite history of hoarseness, these patients should undergo gene sequence analysis. If necessary, otorhinolaryngology and dermatology consults may help confirm the diagnosis. Treatment is primarily symptomatic to improve patients’ quality of life.

scholarly journals Hypertrophic Osteoarthropathy: A Secondary Manifestation of Malignant Melanoma

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Shiva Malaty ◽  
Aditya Gupta
Keyword(s):  
Metastatic Melanoma ◽  
Plain Film ◽  
Hypertrophic Osteoarthropathy ◽  
Imaging Studies ◽  
Case Presentation ◽  
Rare Finding ◽  
Presenting Symptoms ◽  
Lung Malignancies ◽  
History Of

Background. Hypertrophic osteoarthropathy (HOA) is a rare finding in the setting of metastatic melanoma. A majority of cases of secondary HOA involve lung malignancies. Evaluation of presenting symptoms such as polyarthralgia and clubbing followed by review of imaging studies are diagnostic steps for HOA. Case Presentation. We present a 60-year-old female with a history of metastatic melanoma who presented with bilateral and symmetric polyarthralgia and clubbing. A plain film radiograph demonstrated periosteal thickening involving the metacarpals and proximal phalanges as well as the distal radius and ulna, consistent with HOA. The patient was treated with nonsteroidal anti-inflammatory agents for supported care. Conclusion. HOA may be a secondary manifestation of metastatic melanoma. Recognition and supportive care of this condition may lead to improved quality of life for patients.

scholarly journals 1674. Orthopedic Complications of Congenital Zika Syndrome in Brazil

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S613-S613
Author(s):  
Nilson Nogueira Mendes Neto ◽  
Igor T Queiroz ◽  
Jessika T da S. Maia ◽  
Marcelo Zacarkim ◽  
A Desiree Labeaud ◽  
...  
Keyword(s):  
Lower Limb ◽  
Upper Limbs ◽  
Rehabilitation Center ◽  
Congenital Vertical Talus ◽  
Clinical Presentations ◽  
Congenital Zika Syndrome ◽  
History Of ◽  
Vertical Talus ◽  
Social Profiles

Abstract Background Congenital Zika Syndrome (CZS) has a broad spectrum of clinical presentations that are still being described. This cohort study aimed to describe the orthopedic complications in children with microcephaly (MCP) related to Zika virus (ZIKV). Methods We evaluated 36 children with CZS up to 17 months of age followed at a pediatric rehabilitation center in the northeast of Brazil. Cohort enrollment occurred with children born between January 2015 and May 2016. We assessed their social profiles and orthopedic findings. Results Of the 36 cases, 25 were male. All of them lived in rural area. 25 had at least one congenital orthopedic alteration. Hip subluxation was the most common problem detected (n = 15); other lower limb abnormalities included knee subluxation (n = 7), clubfoot (n = 7); congenital vertical talus (n = 4); plano-valgus foot (n = 5). In relation to the upper limbs, 11 children presented with some shoulder and/or elbow abnormality and 16 had some alteration in the hand and/or on the wrist. Conclusion Orthopedic problems appear to be common in children with CZS and should be a focus of larger clinical studies. An initial orthopedic assessment may provide a better quality of life by helping children avoid further complications/deformities. Our results emphasize the orthopedic problems associated with CZS and the need to better describe many complications in the natural history of this infection. Disclosures All authors: No reported disclosures.

scholarly journals Case Report: Organic Hallucinosis in Viral Encephalitis

2021 ◽  
Vol 2 (1) ◽  
pp. 61-64
Author(s):  
Andrian Fajar Kusumadewi
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Mental Disorders ◽  
Viral Encephalitis ◽  
Case Presentation ◽  
The Family ◽  
Organic Mental Disorders ◽  
History Of ◽  
The Brain

Introduction : Organic mental disorders are diseases we need to put more attentionon because they are related to systemic disorders or disorders of the brain and cancause high mortality. Organic mental disorders often manifest in the form ofpsychiatric symptoms so that they can be treated too late because the physician isnot able to recognize the symptoms which can be fatal. Sequelae can be found inorganic mental disorders and may affect the patient’s quality of life, so a fast andproper management is needed to get a better outcome. Case presentation: A caseof organic hallucinosis in viral encephalitis had been reported in a 18 year-old malewith a history of sudden changes in behaviour. The symptoms appeared after thepatient had problems during OSPEK and was threatened by someone. The patientwas the only child in the family and often spoiled by his parents. Laboratory andimaging studies showed that there was a cerebritis in the CT scan result, a decreasein CD4 count, and an increase in anti-Rubella IgG titers in which the patient wasfinally diagnosed with viral encephalitis. Conclusion: The diagnosis of organicmental disorders can easily be overlooked in daily clinical practice so that patientsdo not receive proper management

scholarly journals Fundus flavimaculatus-like in myotonic dystrophy: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Eric Kirkegaard-Biosca ◽  
Mònica Berges-Marti ◽  
Brahim Azarfane ◽  
Esther Cilveti ◽  
Laura Distefano ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Vision Loss ◽  
Posterior Pole ◽  
The Body ◽  
Inherited Disease ◽  
Case Presentation ◽  
Pattern Dystrophy ◽  
Progressive Muscle Weakness ◽  
History Of ◽  
Fundus Flavimaculatus

Abstract Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye. Dysfunction of ocular muscles, ptosis and cataract are the most common ophthalmologic manifestations, but it can also present with pigmentary changes in the retina. This report presents and discusses an unusual case of a pigmented pattern dystrophy simulating a fundus flavimaculatus in a patient with myotonic dystrophy. Case presentation We present a case of a woman with a history of myotonic dystrophy and complaints of progressive vision loss who presented bilateral retinal pigmentary changes in posterior pole and midperiphery. The characteristics and distribution of pigmented deposits, as well as ancillary tests, showed a retinal phenotype compatible with a multifocal pattern dystrophy or a fundus flavimaculatus. Conclusions There are a few publications about retinal disorders in patients with myotonic dystrophy. When macular area is affected it tends to adopt a patterned-shape defined as butterfly dystrophy or reticular dystrophy. To our knowledge, this is the first report of a patient with myotonic dystrophy and multifocal pattern dystrophy or fundus flavimaculatus.

scholarly journals Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ahamad Hassan ◽  
Tracy Campbell ◽  
Lee Darwent ◽  
Hans Odd ◽  
Alison Green ◽  
...  
Keyword(s):  
Prion Disease ◽  
Prion Diseases ◽  
Chinese Patient ◽  
Motor Disorder ◽  
Homozygous Mutation ◽  
Case Presentation ◽  
Asian Populations ◽  
Clinical Presentations ◽  
History Of ◽  
Jakob Disease

Abstract Background Inherited prion diseases are rare autosomal dominant disorders associated with diverse clinical presentations. All are associated with mutation of the gene that encodes prion protein (PRNP). Homozygous mutations with atypical clinical phenotypes have been described but are extremely rare. Case presentation A Chinese patient presented with a rapidly progressive cognitive and motor disorder in the clinical spectrum of sCJD. Investigations strongly suggested a diagnosis of CJD. He was found to carry a homozygous mutation at PRNP codon 200 (E200D), but there was no known family history of the disorder. The estimated allele frequency of E200D in East Asian populations is incompatible with it being a highly penetrant mutation in the heterozygous state. Conclusion In our view the homozygous PRNP E200D genotype is likely to be causal of CJD in this patient. Homotypic PrP interactions are well known to favour the development of prion disease. The case is compatible with recessively inherited prion disease.

A Case Report on Budd Chiari Syndrome – Which Mimics Multiple Disorders

2021 ◽  
Vol 2 (3) ◽  
pp. 4-7
Author(s):  
Niveditha Dileep ◽  
John Thomas ◽  
Jisha James ◽  
Abhijith V
Keyword(s):  
Liver Parenchyma ◽  
Sinusoidal Obstruction Syndrome ◽  
Biliary Disease ◽  
Budd Chiari Syndrome ◽  
Clinical Presentations ◽  
Chiari Syndrome ◽  
History Of ◽  
Clinical Variants ◽  
Diagnostic Approaches

Background: Budd Chiari Syndrome (BCS) is the king of disorders which will mimic other disorders like chronic biliary disease, constrictive pericarditis, sinusoidal obstruction syndrome and so on, as it be like that, it is less diagnosed and treated in many countries. The prevalence of BCS is one in one million population, so it is a very rare case therefore it should be treated properly because many disorders like hematologic or malignant disease are the complications of BCS [1], [2]. Objective: To access the clinical variants of BCS along with the similarities and differences in clinical presentation, diagnostic approaches, and general treatment pattern which mimic, BCS thus gives the physician a clear outline about those disorders. Method: A man of 42 years old having BCS was taken for the study to carry out the differences in clinical features of BCS which distinguish the mimicking disorders. Clinical presentations were noted. Laboratory tests and diagnostic tests showed that the patient is having comorbidities including fatty liver with cholelithiasis, mild splenomegaly, liver parenchyma diseases, large esophageal varies with signs of recent hemorrhage, port hypertensive gastropathy and minimal ascites [3]. Patient get discharged after feeling better. Result: This patient is having chronic BCS with DIPS dysfunction. The patient had no history of liver disease before diagnosing BCS. BCS is almost curable when it is diagnosed correctly as early as possible. If not diagnosed early and treated well, comorbidities will occur, and it will affect the patient quality of life. Discussion: Early detection and proper treatment will help to control the disease up to an extent. This is depending on the physician’s knowledge. Hence, this case study clearly explains the disorders which mimic BCS for better understanding.

scholarly journals Neuro-muscular rehabilitation approach with favorable results in a case of a tetraplegia after a cervical ganglioneuroma – case presentation

2020 ◽  
pp. 530-532
Author(s):  
Cristina POPESCU ◽  
Mihai BAILA ◽  
Cristina DAIA ◽  
Ioana ANDONE ◽  
Daniel SERBAN ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Daily Living ◽  
Spinal Cord Tumor ◽  
Cord Compression ◽  
Rehabilitation Program ◽  
Traumatic Spinal Cord Injury ◽  
Case Presentation ◽  
Cord Injury ◽  
History Of

This is the case of a 52-year-old male patient with tetraplegia and muscle respiratory failure, due to an extradural compressive cervical ganglioneuroma (C1-C2), with a history of neurological symptoms for 3 years. The tumor was completely surgically removed and the patient followed a neuro-muscular rehabilitation program (NMRP) for 4 months, consisting of rehabilitation nursing, physical and occupational therapy. At the end of NMRP the patient’s achievements were: unilateral supported walking, partial autonomous daily living functioning, the improvement of quality of life and facilitation of social and professional participation. Keywords: ganglioneuroma, spinal cord tumor, neuro-muscular rehabilitation program, non-traumatic spinal cord injury, spinal cord compression,

scholarly journals Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review

2020 ◽  
Vol 8 ◽  
Author(s):  
Baiyu Lyu ◽  
Wei Lyu ◽  
Xiaoying Zhang
Keyword(s):  
Gene Mutations ◽  
Severe Neutropenia ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Hematopoietic Stem ◽  
Case Presentation ◽  
Neurological Abnormalities ◽  
Kostmann Syndrome ◽  
History Of

Background: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, is a rare heterogeneous group of diseases characterized by arrested neutrophil maturation in the bone marrow.Case Presentation: We report a case of Kostmann syndrome and review previously reported SCN cases with neurological abnormalities. A 10-year-old boy had a history of recurrent, once a month, infection starting at 6 months of age. He had neutropenia for more than 9 years, as well as intellectual disability. He was homozygous for the exon 3 c.430dupG mutation of the HAX1 gene NM-006118. After treatment of antibiotics and G-CSF, his symtoms were relieved and was 3 months free of infection. The search revealed 29 articles related to Kostmann syndrome caused by HAX1 gene mutation; they were screened, and the main clinical features of 13 cases of Kostmann syndrome with neurological abnormalities were summarized and analyzed.Conclusions: Kostmann syndrome has three main characteristics: severe neutropenia (<0.2 × 109/L), maturation arrest of granulopoiesis at the promyelocyte stage, and death due to infections. HAX1 gene mutations affecting both isoforms A and B are associated with additional neurological symptoms. G-CSF can improve and maintain neutrophil counts, and improve prognosis and quality of life. At present, hematopoietic stem cell transplantation is the only cure.

scholarly journals Giant cardiac hydatid cyst: case presentation with radiologic survey and review of literature

2015 ◽  
Vol 3 (4) ◽  
pp. 165-170
Author(s):  
Ravinder Kumar ◽  
Amit Kumar ◽  
Neha Singh Argahari ◽  
Gagan Jaiswal ◽  
Jyoti Kundu
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Hydatid Cyst ◽  
Review Of Literature ◽  
Intravenous Contrast ◽  
Case Presentation ◽  
Thoracic Computed Tomography ◽  
Clinical Presentations ◽  
Patient Reported ◽  
History Of

Hydatid disease is mostly localised to liver and lungs. Cardiac involvement is a rare but potentially very serious complication of echinococcosis, constituting only 0.5–2% of all cases of hydatidosis. Cardiac hydatid cyst is a diagnostic and therapeutic challenge on account of highly variable clinical presentations and non-specifi c symptoms and often numerous unpredictable complications. We present a case report of 20-year-old man who was admitted to our hospital with chief complaint of palpitations and shortness of breath. Using baseline investigations like ECG, transthoracic echocardiography, ultrasonography, non-contrast computed tomography and magnetic resonance imaging, a giant multiloculated cystic lesion (58.4 mm × 43.3 mm) was diagnosed in the apex of left ventricle. Serologic tests (hydatid cyst antibody) confi rmed Echinococcus infection. Thoracic computed tomography with intravenous contrast was not performed because patient reported history of allergy to contrast. This case report is unusual as it is concerned with the description of a rare disease entity (large cardiac hydatid cyst). Its radiological appearances are discussed for early diagnosis and better understanding of the disease, together with a review of the literature.Journal of Kathmandu Medical CollegeVol. 3, No. 4, Oct.-Dec., 2014Page:

Sign in / Sign up

Export Citation Format

Share Document