Retinal Hamartomas in a case of Tuberous Sclerosis

2021 ◽  
Vol 8 (1) ◽  
pp. 43-46
Author(s):  
Ruchita Bhatt

A 21 year old male patient suffering from epilepsy came for fundoscopic evaluation. Right eye showed a flat, smooth surfaced well circumscribed, non-calcified translucent lesion of 1 disc dioptre size, inferior to the optic disc, obscuring underlying vessels & an opaque, calcified,yellow white lesion having irregular surface & margins with mulberry appearance, elevated, supero-nasal to the disc, obscuring the underlying vessels. Adenoma sebaceum, periungual fibromas, Ash leaf macules were seen on general physical examination suggestive of tuberous sclerosis. MRI brain revealed subependymal nodules & subcortical tubers. OCT showed an optically hyper reflective mass with retinal disorganization and moth eaten spaces. 2D echo showed mild LVH , diastolic dysfunction, trivial mitral and tricuspid regurgitation .USG showed fatty liver and Renal angiomyolipoma. It was interesting to note cardiac & hepatic involvement in addition to the standard TSC major & minor diagnostic criteria.

Author(s):  
Randolph B. Schiffer ◽  
Robert F. Klein ◽  
Roger C. Sider

2018 ◽  
pp. bcr-2018-226244
Author(s):  
Lalit Takia ◽  
Kana Ram Jat ◽  
Anirban Mandal ◽  
Sushil Kumar Kabra

Lymphangioleiomyomatosis (LAM) either sporadic or a part of tuberous sclerosis complex is rare in paediatric age group. Here, we report a case of LAM with tuberous sclerosis in an infant. She was referred to our institute at the age of 4 months as a case of recurrent bilateral pneumothorax requiring intercostal tube drainage. Detailed history revealed that patient was symptomatic since 1 month of age in the form of seizures. She had respiratory symptoms for last 15 days. General physical examination revealed whitish macular patches. Brain imaging was suggestive of cortical tubers and subependymal nodules. The echocardiography showed right atrial rhabdomyoma. Chest CT revealed multiple cysts suggesting LAM. On the basis of above findings, a diagnosis of tuberous sclerosis complex with LAM was made. The infant was started on sirolimus and there was significant clinical and radiological improvement over a period of 2 and half years without any side effects.


2020 ◽  
Vol 36 (3) ◽  
Author(s):  
Javeria Nasir ◽  
Anum Javed ◽  
Owais Arshad ◽  
Mohammad Hanif` Chatni

Ophthalmologists, including general practitioners definitely encounter ocular foreign bodies in their clinics. Theconjunctival fornices are potential sites of impaction. We report a case of a 9-month infant boy who was referred to us for a persistent lower lid swelling for one month. He had already been to an eye specialist before presenting to us. Upon examination, a round, pink coloured, toy cart-wheel came out of his lower eye lid of the right eye. Surprisingly, there was no associated conjunctival or adnexal damage. The authors wish to emphasize the importance of taking a thorough history and adequate general physical examination. A missing part of a toy, elucidated on history, should always raise the suspicion among parents and/or care givers for a probable foreign body in infants and children.


2018 ◽  
Vol 21 (1) ◽  
Author(s):  
Wioletta Mędrzycka-Dąbrowska ◽  
Renata Piotrkowska ◽  
Katarzyna Kwiecień-Jaguś ◽  
Piotr Jarzynkowski ◽  
Sandra Popiołek

Introduction. The history of the use of physical examination by nurses in the United States of America dates back to the 1960s. Transformation of nurses’ education and midwives in Poland also enabled the introduction of classes preparing students and nurses for physical examination. Aim. The aim of the study was to assess the scope of physical examination used by nurses in selected surgical and non-surgical departments. Material and methods. The study involved 89 nurses employed in one of the hospitals in the Pomeranian Voivodeship. The study was conducted in 2017. The work involved the method of a diagnostic survey and the research tool was a questionnaire of own authorship. The results of the study were subjected to statistical analysis using the Microsoft Excel 2013 spreadsheet and the IBM SPSS Statistics 23 statistical package. Results. There are statistically significant differences in the physical examination of the general subjects (assessment of the structure and body proportions, nutritional status), as well as the measurement of breathing, heart rate, blood pressure, body temperature during hospitalization and within the head and neck and chest. Conclusions. Nurses working in surgical wards are more likely to perform general physical examination and measurement of breathing, pulse, blood pressure and body temperature during hospitalization compared to nurses from non-surgical wards. However, when admitted to the hospital, they more often assess the arterial system. Level of education and work experience in the profession are factors affecting the frequency of physical examination.


Author(s):  
Seeba Zachariah ◽  
Kiran Kumar ◽  
Shaun Wen Huey Lee ◽  
Wai Yee Choon ◽  
Saba Naeem ◽  
...  

2019 ◽  
Vol 22 (6) ◽  
pp. 521-530 ◽  
Author(s):  
Stephanie L Mella ◽  
Thomas JA Cardy ◽  
Holger A Volk ◽  
Steven De Decker

Objectives The aim of this study was to evaluate if a combination of discrete clinical characteristics can be used to identify the most likely differential diagnoses in cats with spinal disease. Methods Two hundred and twenty-one cats referred for further evaluation of spinal disease were included and categorised as follows: non-lymphoid neoplasia (n = 44); intervertebral disc disease (n = 42); fracture/luxation (n = 34); ischaemic myelopathy (n = 22); feline infectious peritonitis virus myelitis (n = 18); lymphoma (n = 16); thoracic vertebral canal stenosis (n = 11); acute non-compressive nucleus pulposus extrusion (n = 11); traumatic spinal cord contusion (n = 8); spinal arachnoid diverticula (n = 7); lumbosacral stenosis (n = 5); and spinal empyema (n = 3). Information retrieved from the medical records included signalment, clinical history and clinical presentation. Univariate analyses of variables (clinical history, breed, age, sex, general physical examination findings, onset, progression, spinal hyperaesthesia, asymmetry, ambulatory status and neuroanatomical location) were performed, and variables were retained in a multivariate logistic regression model if P <0.05. Results Multivariate logistic regression revealed that intervertebral disc disease most often occurred in middle-aged, purebred cats with a normal general physical examination and an acute onset of painful and progressive clinical signs. Ischaemic myelopathy occurred most often in older cats with a stable or improving, non-painful, lateralising, C6–T2 myelopathy. Spinal fracture/luxation occurred most often in younger cats and resulted most often in a peracute onset, painful, non-ambulatory neurological status. Concurrent systemic abnormalities or abnormal findings detected on general physical examination were significantly associated with feline infectious peritonitis virus myelitis, spinal lymphoma or spinal empyema. Conclusions and relevance This study suggests that using easily identifiable characteristics from the history and clinical examination can assist in obtaining a preliminary differential diagnosis when evaluating cats with spinal disease. This information could aid veterinary practitioners in clinical decision-making.


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