A Phenotypically Variable Presentation of Albinism: A Case Report

2019 ◽  
pp. 119-128
Keyword(s):  
Case Report ◽  
Low Vision ◽  
Normal Skin ◽  
Gene Mutations ◽  
Standard Of Care ◽  
Oculocutaneous Albinism ◽  
Clinical Findings ◽  
The Body ◽  
Ocular Albinism ◽  
Low Vision Clinic

Background: Albinism refers to a group of hereditary conditions, present at birth, that are characterized by gene mutations resulting in hypopigmentation of the skin, hair, and ocular structures. There are two categories of albinism distinguished by the mode of inheritance as well as the body structures affected: Oculocutaneous Albinism and Ocular Albinism. Case Report A 10 year old Caucasian-Hispanic female was referred to the Low Vision Clinic withvision impairment secondary to albinism, a diagnosis confirmed by the Electrophysiology Department two years prior. Ancillary testing supporting albinism included Visual Evoked Potentials (VEPs) demonstrating abnormal optic nerve fiber decussation and optical coherence tomography (OCT) revealing foveal hypoplasia. Clinical findings consistent with albinism included strabismus with reduced stereopsis, mild but diffuse iris transillumination defects and blonde fundi. The patient had physical characteristics of fair skin, light brown hair, and had normal color vision, moderately reduced visual acuity, and absence of nystagmus, suggesting a mild phenotypic variation of albinism. At her low vision evaluation, the patient appreciated improvement in visual function with the following devices: a dome magnifier for magnification at near, a handheld telescope for magnification at distance, and a light grey tint to reduce photophobia indoors. Additional accommodations were recommended to the school system to employ while in the classroom setting. Conclusion: Clinicians should consider the diagnosis of albinism in patients with reduced vision even when they demonstrate mostly normal skin and ocular pigmentation. Clinical cases associated with a better acuity in albinism patients include some presence of stereoacuity, mild strabismus, absence of nystagmus and near normal levels of iris pigmentation, like the patient described in the case report. Despite the level of visual impairment, the standard of care for patients with decreased vision or visual symptoms should always be a low vision evaluation in order to maximize functional vision.

IgG4-related disease: a case report

2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Silvia de las Heras Flórez ◽  
Mercedes Carretero Pérez ◽  
Carmen Teresa Sanz Díaz ◽  
José Alejandro Medina García
Keyword(s):  
Case Report ◽  
Elevated Serum ◽  
Symptomatic Patient ◽  
Clinical Findings ◽  
The Body ◽  
Histopathological Findings ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Serum Igg4

AbstractIgG4-related disease (IgG4-RD) is a condition that was first described recently, and is capable of affecting any organ of the body. Diagnosis is based on the correlation of clinical findings with histopathological findings and elevated serum IgG4. Treatment involves corticosteroids and rituximab for the most severe cases. We report the case of a symptomatic patient diagnosed of IgG4-RD whose diagnosed was guided by elevated serum IgG4 levels.

scholarly journals Systemic Sclerosis (Scleroderma) with Hypothyroidism in a Four and Half Year Old Child: A Case Report

1970 ◽  
Vol 25 (1) ◽  
pp. 47-51
Author(s):  
SA Rahman ◽  
J Sultana ◽  
SS Huque ◽  
CA Kawser
Keyword(s):  
Case Report ◽  
Systemic Sclerosis ◽  
Clinical Findings ◽  
The Body ◽  
Paediatric Ward ◽  
Medical University ◽  
Different Parts

A four and half years old boy was admitted in the Paediatric ward of Bangabandhu Sheikh Mujib Medical University (BSMMU) with the complaints of tightening of skin at different parts of the body and contracture of the joints. Three years back he was admitted in the same hospital for weakness, less activity and constipation. At that time he was diagnosed as a case of hypothyroidism. On examination the boy had expressionless face, pinched nose and microstomia. There was tightening and hardening of skin all over the body associated with sclerodactyly and contractures and flexion deformities of all the distal joints of the extremities. From the history, clinical findings and supportive investigations the boy was diagnosed as a case of systemic sclerosis with hypothyroidism. (J Bangladesh Coll Phys Surg 2007; 25 : 47-51)

scholarly journals Case Report: Microfragmented Adipose Tissue Drug Delivery in Canine Mesothelioma: A Case Report on Safety, Feasibility, and Clinical Findings

2021 ◽  
Vol 7 ◽  
Author(s):  
Offer Zeira ◽  
Erica Ghezzi ◽  
Letizia Pettinari ◽  
Valentina Re ◽  
Davide M. Lupi ◽  
...  
Keyword(s):  
Drug Delivery ◽  
Adipose Tissue ◽  
Case Report ◽  
Circulatory System ◽  
Clinical Findings ◽  
The Body ◽  
New Drugs ◽  
Systemic Absorption ◽  
Low Toxicity ◽  
Short Time

Mesothelioma is a rare lethal tumor of dogs and humans involving cavities of the body. Dogs are considered a model for new drugs and therapeutic methods since they present spontaneous diseases similar to humans. Microfragmented adipose tissue (MFAT) uploaded by paclitaxel (PTX) is a drug delivery medium providing slow release of chemotherapic drugs. A dog affected by pleural, pericardial, and peritoneal mesothelioma was treated by 17 intracavitary ultrasound-guided injections of MFAT-PTX over 22 months. A long-lasting improvement of general conditions was observed, treatment was well-tolerated, and no toxicity or hypersensitivity was reported. Pharmacokinetic (PK) data indicated low drug localization in the circulatory system and a tendency to enter or remain in the extravascular compartments of the body. Indeed, low levels of free-circulating drugs for a short time produced low toxicity, whereas, a higher intracavitary PTX concentration can have major pharmacological efficacy. To our knowledge, this is the first time that mesothelioma has been treated using such a procedure, and this should be considered as a novel therapeutic approach. The low systemic absorption suggests the possible role of MFAT-PTX for loco-regional/intratumoral therapy also useful in other types of tumors, and further investigation is warranted.

Neonatal Gastric Web Located in the Body of Stomach: A Case Report

2006 ◽  
Vol 54 (1) ◽  
pp. 39
Author(s):  
Jun Hyun Yun ◽  
Hyun Jun Choi ◽  
Ji Hyeo Choi ◽  
Ju Hyun Im ◽  
Se Jong Kim ◽  
...  
Keyword(s):  
Case Report ◽  
The Body

A Case Report on Glanzmann’s Thrombasthenia: A Rare Platelet Function Disorder

2018 ◽  
Vol 2 (02) ◽  
pp. 59-60
Author(s):  
Farida Yasmin ◽  
Md. Anwarul Karim ◽  
Chowdhury Yakub Jamal ◽  
Mamtaz Begum ◽  
Ferdousi Begum
Keyword(s):  
Case Report ◽  
Platelet Function ◽  
The Body ◽  
Presenting Symptoms ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Platelet Function Disorders ◽  
Recurrent Epistaxis ◽  
Severe Epistaxis ◽  
History Of

Epistaxis in children is one of the important presenting symptoms for attending emergency department in paediatric patients. Recurrent epistaxis is common in children. Although epistaxis in children usually occurred due to different benign conditions, it may be one of the important presenting symptoms of some inherited bleeding disorder. Whereas most bleeding disorders can be diagnosed through different standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. In this article we describe one case report of platelet function disorders on Glanzmann’s thrombasthenia (GT). Our patient was a 10-year old girl who presented to us with history of recurrent severe epistaxis. She had a bruise on her abdomen and many scattered petechiae in different parts of the body. Her previous investigations revealed no demonstrable haemostatic anomalies. After performing platelet aggregation test, she was diagnosed as GT.

Linezolid Induced Skin Reactions in a Multi Drug Resistant Infective Endocarditis Patient: A Rare Case

2020 ◽  
Vol 15 (3) ◽  
pp. 222-226 ◽  
Author(s):  
Asha K. Rajan ◽  
Ananth Kashyap ◽  
Manik Chhabra ◽  
Muhammed Rashid
Keyword(s):  
Case Report ◽  
Infective Endocarditis ◽  
Rare Case ◽  
Case Reports ◽  
Multidrug Resistant ◽  
The Body ◽  
Prior History ◽  
Skin Reactions ◽  
Rare Case Report ◽  
Multiple Drugs

Rationale: Linezolid (LNZ) induced Cutaneous Adverse Drug Reactions (CADRs) have rare atypical presentation. Till date, there are very few published case reports on LNZ induced CADRs among the multidrug-resistant patients suffering from Infective Endocarditis (MDR IE). Here, we present a rare case report of LNZ induced CARs in a MDR IE patient. Case report: A 24-year-old female patient was admitted to the hospital with chief complaints of fever (101°C) associated with rigors, chills, and shortness of breath (grade IV) for the past 4 days. She was diagnosed with MDR IE, having a prior history of rheumatic heart disease. She was prescribed LNZ 600mg IV BD for MDR IE, against Staphylococcus coagulase-negative. The patient experienced flares of cutaneous reactions with multiple hyper-pigmented maculopapular lesions all over the body after one week of LNZ therapy. Upon causality assessment, she was found to be suffering from LNZ induced CADRs. LNZ dose was tapered gradually and discontinued. The patient was prescribed corticosteroids along with other supportive care. Her reactions completely subsided and infection got controlled following 1 month of therapy. Conclusion: Healthcare professionals should be vigilant for rare CADRs, while monitoring the patients on LNZ therapy especially in MDR patients as they are exposed to multiple drugs. Moreover, strengthened spontaneous reporting is required for better quantification.

Critical analysis and unique management of Gridhrasi w.s.r. to Sciatica - A Case Report

2018 ◽  
Vol 3 (4) ◽  
Author(s):  
Dr. Rangarajan B. ◽  
Dr. Muralidhara .
Keyword(s):  
Low Back Pain ◽  
Back Pain ◽  
Case Report ◽  
Total Population ◽  
The Body ◽  
Walking Distance ◽  
Common Symptom ◽  
Low Back ◽  
Short Term ◽  
Lower Back

Gridhrasi (Sciatica) is a disorder in which low back pain is found, that spreads through the hip, to the back of the thigh and down the inside of the leg. Mechanical low back pain (LBP) remains the second most common symptom related reason for seeing a physician. 85% of total population will experience an episode of mechanical LBP at some point during their lifetime. Fortunately, the LBP resolves for the vast majority within 2-4 weeks. There are many causes for low back pain, however true sciatica is a symptom of inflammation or compression of the sciatica nerve. The sciatica nerve carries impulses between nerve roots in the lower back and the muscles and nerve of the buttocks, thighs and lower legs. Compression of a nerve root often occurs as a result of damage to one of the discs between the vertebrae. In some cases, sciatic pain radiate from other nerves in the body. This is called referred pain. Pain associated with sciatica often is severe, sharp and shooting. It may be accompanied by other symptom, such as numbness, tingling, weakness and sensitivity to touch. There is only conservative treatment giving short term relief in pain or surgical intervention with side effect. But these are not successful and therefore those who are suffering from this are always in search of result oriented remedy. Walking distance and SLR test were taken for assessment parameter, VAS score was adopted for pain. Before treatment patient was not able to walk even 4 to 5 steps due to severe pain, was brought on stretcher and his SLR was 30° of right side. After 22 days of treatment he was able to walk up to 500 meters without any difficulty, SLR was changed to 60° and patient had got 80 % relief in pain. This case report showed that Ayurvedic protocol is potent and safe in the treatment of Gridhrasi.

Abdominal decompression illness following repetitive diving: a case report and review of the literature

2019 ◽  
pp. 211-215
Author(s):  
Peter Beale ◽  
Levi Kitchen ◽  
W.R. Graf ◽  
M.E. Fenton ◽  
Keyword(s):  
Case Report ◽  
The Body ◽  
Decompression Illness ◽  
Review Of The Literature ◽  
Hyperbaric Chamber ◽  
Foreign National ◽  
Biochemical Effects ◽  
Elapsed Time ◽  
Nitrogen Bubbles ◽  
Abdominal Decompression

The complete pathophysiology of decompression illness is not yet fully understood. What is known is that the longer a diver breathes pressurized air at depth, the more likely nitrogen bubbles are to form once the diver returns to surface [1]. These bubbles have varying mechanical, embolic and biochemical effects on the body. The symptoms produced can be as mild as joint pain or as significant as severe neurologic dysfunction, cardiopulmonary collapse or death. Once clinically diagnosed, decompression illness must be treated rapidly with recompression therapy in a hyperbaric chamber. This case report involves a middle-aged male foreign national who completed three dives, all of which incurred significant bottom time (defined as: “the total elapsed time from the time the diver leaves the surface to the time he/she leaves the bottom)” [2]. The patient began to develop severe abdominal and back pain within 15 minutes of surfacing from his final dive. This case is unique, as his presentation was very concerning for other medical catastrophes that had to be quickly ruled out, prior to establishing the diagnosis of severe decompression illness. After emergency department resuscitation, labs and imaging were obtained; abdominal decompression illness was confirmed by CT, revealing a significant abdominal venous gas burden.

Corneal cross-linking for treatment of progressive keratoconus in a patient with Alport syndrome: A case report

2021 ◽  
pp. 112067212199767
Author(s):  
Iva Krolo ◽  
Aida Kasumović ◽  
Ivana Radman ◽  
Pavao Pavić
Keyword(s):  
Case Report ◽  
Alport Syndrome ◽  
Contact Lenses ◽  
Corneal Dystrophy ◽  
Clinical Findings ◽  
Cross Linking ◽  
Posterior Polymorphous Corneal Dystrophy ◽  
One Year ◽  
Corneal Tomography

Purpose: Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, this is the first report of corneal cross-linking for halting the progression of keratoconus in a patient with Alport syndrome. Case report: A 22-year-old male was referred for his initial corneal topography, after he was already prescribed with rigid gas-permeable contact lenses. Alport syndrome was diagnosed in his infancy and gene COL4A5 mutation was confirmed. Ophthalmological evaluation confirmed keratoconus. One-year follow-up showed a progression on his right eye and standard corneal cross-linking was performed. Stabilization of the disease marked by normalization in visual function and corneal tomography values was noticed 1 year after the procedure. Conclusions: When diagnosing ocular clinical findings of Alport syndrome, keratoconus should be considered. Standard corneal cross-linking protocol can halt its progression.

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