scholarly journals Severe Ocular Surface abnormalities in a child and Ectodermal Dysplasia: A Case Report.

2019 ◽  
Vol 7 (7) ◽  
pp. 2845
Author(s):  
Shailender Minhas ◽  
Rajeev Tuli ◽  
Gaurav Sharma
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Systemic Disease ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Abnormal Development ◽  
Body Sensation ◽  
Younger Age ◽  
The Family

Ectodermal Dysplasia is a disorder that occurs due to abnormal development of at least two major ectodermal derivatives in the developing embryo. Author report the case of a 10 year old male child who was referred to our department with complaints of absent sweating, foreign body sensation and watering in both eyes for past few months. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age.  The purpose of this case report is to create awareness in the Ophthalmic community about the diagnosis and clinical manifestations of the disorder. This case highlights the role of multidisciplinary approach for management of systemic disease, genetic evolution of affected individual and carriers and genetic counseling.

scholarly journals Auscultating a pea: the stethoscope may matter in otorhinolaryngology emergency evaluation

2021 ◽  
Vol 7 (3) ◽  
pp. 530
Author(s):  
Francisco Alves De Sousa ◽  
Ana Costa Silva ◽  
Ana Nóbrega Pinto ◽  
Cecília Almeida E. Sousa
Keyword(s):  
Foreign Body ◽  
Lower Lobe ◽  
Signs And Symptoms ◽  
Foreign Body Sensation ◽  
Careful Examination ◽  
Lower Airway ◽  
Lobe Bronchus ◽  
Body Sensation ◽  
The Right

<p>Foreign body sensation is a common complaint in the otorhinolaryngology emergency. Careful examination of the patient’s pharynx is mandatory, but sometimes the object is not visualized. In such scenario, it may be important to explore signs and symptoms indicating lower aerodigestive impaction. This work describes the case of a 73-year-old woman without relevant comorbidities attending to emergency care. She complained of a foreign body sensation on the right side of the throat after ingesting a meal, which motivated referral to otorhinolaryngology. Flexible transnasal nasopharyngoscopy was unremarkable and no foreign bodies were found. Auscultation was performed revealing low-pitch expiratory wheezing on her right hemithorax. The suspicion of bronchial foreign body was then raised, which was ultimately confirmed by imaging and bronchoscopy, showing an impacted pea on the right lower lobe bronchus. The stethoscope was hence determinant for detecting aspiration, by revealing consistent alterations. Its usage should be encouraged in similar scenarios, highlighting the role of this classic but sometimes forgotten tool. Importantly, higher neck/throat sensations should not exclude the possibility of a lower airway foreign body.</p>

Challenges in the management of late developing malocclusions in adulthood: A case report of acromegaly

2019 ◽  
Vol 46 (4) ◽  
pp. 349-357
Author(s):  
Geetanjali Sharma ◽  
Dipali Amin ◽  
Mohammad Shorafa
Keyword(s):  
Case Report ◽  
Surgical Management ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Management Plan ◽  
Good Position ◽  
Management Challenge

The development of a malocclusion in adulthood can present as a diagnostic and management challenge to an orthodontist. It is prudent to identify the aetiology of changes to the occlusion which will influence the management plan. Uncommon causes include acromegaly. Orthodontists are in a good position to identify certain underlying disorders based on a patient’s presenting malocclusion that may otherwise go unnoticed and undiagnosed until other systemic signs and symptoms present themselves at the latter stages of the condition. This case report highlights possible aetiological factors of a developing malocclusion in adulthood and presents the clinical manifestations and joint orthodontic–surgical management of a patient with a developing skeletal III base attributed to acromegaly.

scholarly journals Presentation of the Child with Renal Disease and Guidelines for Referral to the Pediatric Nephrologist

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Amin J. Barakat
Keyword(s):  
Urinary Tract ◽  
Renal Disease ◽  
Systemic Disease ◽  
Renal Involvement ◽  
Signs And Symptoms ◽  
Pediatric Nephrologist ◽  
Modes Of Presentation ◽  
Renal Tubular ◽  
High Index Of Suspicion

Renal disease is a major cause of morbidity and mortality. Pediatric patients with renal disease, especially younger ones may present with nonspecific signs and symptoms unrelated to the urinary tract. Pediatricians, therefore, should be familiar with the modes of presentation of renal disease and should have a high index of suspicion of these conditions. Affected patients may present with signs and symptoms of the disease, abnormal urinalysis, urinary tract infection, electrolyte and acid-base abnormalities, decreased renal function, renal involvement in systemic disease, glomerular and renal tubular diseases, congenital abnormalities, and hypertension. Pediatricians may initiate evaluation of renal disease to the extent that they feel comfortable with. The role of the pediatrician in the management of the child with renal disease and guidelines for patient referral to the pediatric nephrologist are presented.

scholarly journals An Emerging, Neglected and Underestimated Zoonotic Parasitic Ocular Infestation: A Comprehensive Review on Thelaziasis

2021 ◽  
Vol 9 (02) ◽  
pp. 82-88
Author(s):  
Rajeshwar Reddy Kasarla ◽  
Shristi Raut Adhikari ◽  
Kripa Ghimire ◽  
Laxmi Pathak
Keyword(s):  
Rural Communities ◽  
Scientific Information ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Intermediate Hosts ◽  
Low Socioeconomic ◽  
Body Sensation ◽  
Close Proximity ◽  
Corneal Opacities ◽  
Accidental Host

Human thelaziasis is an emerging insect-borne zoonotic ocular parasitic infestation, occur more commonly in rural communities with poor living and low socioeconomic living, and mainly affects the children and old age people, where humans live in close proximity with animals. Human thelaziasis is caused by both Thelazia callipaeda and Thelazia californiensis. T. callipaeda lives under the eye lids, nictitating membranes, orbit, conjunctival sac, lachrymal glands, and lacrimal ducts of cats, dogs, rabbits, horses, cattle, deer, badgers, monkeys, wolves, foxes (definitive hosts) and man being an accidental host. The vectors (intermediate hosts) are non-biting, tear-seeking, diptera flies of family Drosophilidae (fruit flies) Phortica variegata, which feeds on tears of their definitive hosts, including humans. Clinical manifestations include conjunctivitis, lacrimation, itching or pain with foreign body sensation, epiphora, follicular hypertrophy, and less often with severe signs and symptoms such as keratitis, photophobia, ectropion, corneal opacities (due to the migration of worm across the cornea), floaters within the eye chamber leading to visual impairment/blindness. The knowledge and scientific information on human thelaziasis is still unknown or relatively limited to many ophthalmologists and clinicians, and received little attention; hence this comprehensive and systematic review of human thelaziasis, is undertaken to highlight its importance and further research.

scholarly journals Johanson-Blizzard Syndrome with Short Stature

2016 ◽  
Vol 35 (3) ◽  
pp. 287-289
Author(s):  
Enayatollah Nemat Khorasani ◽  
Fariba Mansouri
Keyword(s):  
Hearing Loss ◽  
Mental Retardation ◽  
Short Stature ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Growth Failure ◽  
Signs And Symptoms ◽  
Pancreatic Disease ◽  
Abnormal Development ◽  
Exocrine Dysfunction

Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease. We report a ten years Irannian child with signs and symptoms suggestive of this syndrome (JBS).J Nepal Paediatr Soc 2015;35(3):287-289.

DEFICIENCY OF LRBA: BIBLIOGRAPHICAL REVIEW AND CASE REPORT

2021 ◽  
Vol 100 (2) ◽  
pp. 192-203
Author(s):  
I.V. Kondratenko ◽  
◽  
S.S. Vakhlayrskaya ◽  
D.V. Rogozhin ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Basis ◽  
Clinical Manifestations ◽  
Main Role ◽  
Principles Of Treatment ◽  
The Subject ◽  
Next Generation Sequencing Ngs ◽  
Lrba Deficiency ◽  
Generation Sequencing

Since the description of the first primary immunodeficiencies (PIDs) in the 50–60s of the last century, they have been the subject of intensive research aimed at elucidating their etiology and finding effective treatments. The development of next-generation sequencing (NGS) methods made it possible to reveal the genetic basis of many new forms of PID, which were previously attributed to various syndromes due to their clinical and immunological characteristics. An example of such a PID is the LRBA (the lipopolysaccharide-responsive and beige-like anchor protein) deficiency, sometimes called LATAIE [LRBA deficiency with autoantibodies, regulatory T (Treg) cell defects, autoimmune infiltration, and enteropathy]. The article provides information on the main role of the LRBA molecule in the functions of immunocompetent cells, describes immunological disorders and clinical manifestations of LRBA deficiency and the principles of treatment of diseases. Two own observations of LRBA deficiency are presented.

scholarly journals Chronic disseminated histoplasmosis with lesions restricted to the mouth: case report

2006 ◽  
Vol 48 (2) ◽  
pp. 113-116 ◽  
Author(s):  
Antonio Carlos F. do Valle ◽  
Luiz Carlos Moreira ◽  
Rodrigo Almeida-Paes ◽  
João S. Moreira ◽  
Cláudia V. Pizzini ◽  
...  
Keyword(s):  
Case Report ◽  
Histoplasma Capsulatum ◽  
Systemic Disease ◽  
Signs And Symptoms ◽  
Histopathological Analysis ◽  
Alcoholic Patient ◽  
Oral Lesions ◽  
Disseminated Histoplasmosis ◽  
Immunodeficiency Virus ◽  
Hiv Negative

We report a rare case of chronic disseminated histoplasmosis with several ulcerated lesions in the oral cavity in an alcoholic patient without human immunodeficiency virus infection, with no detectable signs and symptoms of systemic disease or extraoral manifestations. Histopathological analysis revealed chronic inflammatory process with granulomas containing Histoplasma-like organisms. The isolation of Histoplasma capsulatum provided the definitive diagnosis. Treatment with itraconazole resulted in complete remission of oral lesions. As far we aware, this is the second case report of oral histoplasmosis in an HIV negative patient described in Brazil.

scholarly journals Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

2017 ◽  
Vol 74 (2) ◽  
pp. 184-188 ◽  
Author(s):  
Dejan Marinkovic ◽  
Tamara Dragovic ◽  
Sasa Kikovic ◽  
Snezana Kuzmic-Jankovic ◽  
Zorana Djuran ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Neurodegenerative Disorder ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Intravenous Rehydration ◽  
Fahr’S Syndrome ◽  
Appropriate Treatment ◽  
Brain Calcification ◽  
Neuropsychiatric Manifestations

Introduction. Fahr?s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification. It is associated with neuropsychiatric manifestations and gradually progressive cognitive impairment. Fahr's syndrome is the secondary form of brain calcification that is caused by various metabolic, infectious, or degenerative diseases. Case report. We presented a middle-aged male with Fahr's syndrome due to primary idiopathic hypoparathyroidism. Clinical diagnosis was based on signs and symptoms of hypocalcemia, progressive neuropsychiatric illnesses, laboratory evidence of hypoparathyroidism, and radiological signs of calcifications in the basal ganglia. The patient improved after only a few days of intravenous rehydration and calcium substitution, followed by oral supplemental calcitriol. Conclusion. Timely recognition of idiopathic and iatrogenic hypoparathyroidism allows appropriate treatment that can prevent the development and clinical manifestations of Fahr?s syndrome and potentially slow its progression.

scholarly journals Role of Radiologist in Diagnosis of Neonatal Small Left Colon Syndrome: A Case Report

2020 ◽  
Author(s):  
Ibrahim Haruna Gele ◽  
Muhammad Baba Sule ◽  
Sadisu Mohammed Maaji ◽  
Abubakar Musa ◽  
Muhammad Abacha
Keyword(s):  
Case Report ◽  
Intestinal Obstruction ◽  
Splenic Flexure ◽  
Signs And Symptoms ◽  
Abdominal Distension ◽  
Contrast Enema ◽  
Left Colon ◽  
Abrupt Transition ◽  
Neonatal Intestinal Obstruction

Neonatal small left colon syndrome is a well-defined functional disease of the lower colon and it results in signs and symptoms of intestinal obstruction. It is an uncommon cause of neonatal intestinal obstruction characterised by an abrupt transition of intestinal caliber at or near the splenic flexure. More than 50% of affected patients are born to mothers with diabetes. We report a five-day-old neonate who presented with abdominal distension and vomiting diagnosed to have small left colon syndrome by contrast enema. He had surgical resection of the narrowed segment and anastomosis with subsequent resolution of symptoms.

Phlyctenular Conjunctivitis Treated with Homoeopathy: A Case Report

2021 ◽  
Vol 34 (03) ◽  
pp. 235-240
Author(s):  
Sandeep Sudhakar Sathye
Keyword(s):  
Case Report ◽  
Conventional Treatment ◽  
Secondary Infection ◽  
Signs And Symptoms ◽  
Bulbar Conjunctiva ◽  
Topical Steroids ◽  
Documentary Evidence ◽  
Bacterial Protein ◽  
Body Sensation

AbstractPhlyctenular conjunctivitis (PC) is characterised by formation of a whitish nodule on bulbar conjunctiva near or at the limbus with a localised conjunctival congestion. It is considered as an allergic reaction to endogenous bacterial protein. Conventional treatment includes use of topical steroids in simple PC, but if there is some degree of secondary infection or corneal involvement then combined steroid-antibiotics are used though there are high chances of recurrence. Homoeopathic literature has medicines listed for PC. The case reported was a female aged 60 years suffering from PC in right eye since 5 days and had no relief from local conventional treatment. She had complaints of redness, foreign body sensation and whitish discharge from the eye. Phlycten was at 6 o'clock position below the limbus with much conjunctival congestion around it and in the lower fornix. Homoeopathic Hepar sulphuris 30C resolved nodule within a week but the patient had itching of eye at the inner canthus, especially in the morning. Homoeopathic Natrum muriaticum 30C helped to resolve conjunctival congestion in the fornix and itching of eye within a week. Both medicines were prescribed on the basis of local signs and symptoms. There was no recurrence in the last 5 months. This case report with ocular photographs during follow-up provides documentary evidence about effectiveness of homoeopathy in PC.

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