scholarly journals Case report on tuberous sclerosis

2017 ◽  
Vol 6 (4) ◽  
pp. 997
Author(s):  
Zeebaish S. ◽  
Hemalatha P. ◽  
Anusha Y. ◽  
Surendra Reddy N. ◽  
Durga Prasad T. S.
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Female Child ◽  
Skin Lesions ◽  
Multisystem Disorder ◽  
Three Generations ◽  
Pigmented Skin Lesions ◽  
The Brain

Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung and liver.  The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.  Most features of tuberous sclerosis become evident only in childhood, limiting their usefulness for early diagnosis. We report a case of 3months old female child with seizures and hypo-pigmented skin lesions. The case is rare as it is documented in a family affected continuously in three generations involving four members.

scholarly journals Case report on tuberous sclerosis

2021 ◽  
Vol 97 (2) ◽  
pp. 56-60
Author(s):  
Nadezhda V. Krasnova ◽  
Geliya G. Gimalieva ◽  
Larisa G. Sinitsyna
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Ct Scan ◽  
Tuberous Sclerosis ◽  
Skin Lesions ◽  
Visual Examination ◽  
Comprehensive Examination ◽  
The Face ◽  
The Brain ◽  
Tubular Bones

Patient M., 23 years old, consulted a dermatologist with complaints of rashes on the face, which had bothered since childhood. On objective examination, skin lesions were widespread. A visual examination revealed spots of hypopigmentation, angiofibromas of the face, shagreen fate of the skin, periungual fibromas. She was diagnosed with tuberous sclerosis. Further examination revealed a neoplasm in the brain and right kidney, damage to the lungs, tubular bones, lymphadenopathy. The patient continues to be monitored by a neurologist and therapist. Based on the results of CT scan of the chest organs, an oncologist's consultation was scheduled to conduct an oncology search. Thus, with skin manifestations characteristic of this disease, it is necessary to conduct a comprehensive examination to identify concomitant pathology and early diagnosis of complications.

scholarly journals Tale of a Teenager: A Case Report of Tuberous Sclerosis

2021 ◽  
Vol 33 (1) ◽  
pp. 99-103
Author(s):  
Nawsabah Noor ◽  
Iffat Ara Jurfa ◽  
Halima Khatun ◽  
Homayra Tahseen ◽  
Quazi Tarikul Islam
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Dominant Inheritance ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103

scholarly journals Case report on Tuberous Sclerosis

2014 ◽  
Vol 2 (4) ◽  
pp. 208-210
Author(s):  
Sushma Shrestha ◽  
Sabina Shrestha ◽  
Anil Raj Ojha
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Late Childhood ◽  
Multisystem Disorder ◽  
Rare Genetic Disorder ◽  
Autosomal Dominant Fashion

Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here, we report a case of an 11 year male child with tuberous sclerosis.DOI: http://dx.doi.org/10.3126/jkmc.v2i4.11798Journal of Kathmandu Medical CollegeVol. 2, No. 4, Issue 6, Oct.-Dec., 2013Page : 208-210

Tuberous sclerosis with increasing calcification in the brain during a 15-month period: A case report

1984 ◽  
Vol 8 (5) ◽  
pp. 279-283
Author(s):  
Tatsuo Takao ◽  
Takehiko Okuno ◽  
Masatoshi Ito ◽  
Shozo Nakano ◽  
Haruo Hattori ◽  
...  
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
The Brain

scholarly journals The Mote in thy Brother’s Eyes - Fusarium Solani in Leukemia Host

2021 ◽  
Author(s):  
Rawan AlAgha ◽  
Wee Lee Chan ◽  
Thong Edwin Wei Sheng ◽  
Joanne Lee ◽  
Jen Wei Ying ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
High Mortality ◽  
Combination Chemotherapy ◽  
Fusarium Solani ◽  
Immunocompromised Host ◽  
Skin Lesions ◽  
Acute Onset ◽  
Source Control ◽  
Anti Fungal

Abstract Fusariosis is increasingly seen among immunocompromised host. The organism is known for its virulence and spectrum of infections. Presenting here a case of relapse acute myeloblastic leukemia on chemotherapy with acute onset of red painful eye followed by widespread painful skin lesions. Microbiological and radiological investigations diagnosed her with disseminated fusariosis. Treatment was challenging in view its inherent resistance to multiple anti-fungal agents and the need for early aggressive source control. The case report reflects the importance of early diagnosis and combination chemotherapy to salvage the patient from high mortality.

Tuberous Sclerosis Complex

2017 ◽  
Author(s):  
Tanjala T. Gipson ◽  
Andrea Poretti ◽  
Rebecca McClellan ◽  
Michael V. Johnston
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Scientific Discovery ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Behavioral Difficulties ◽  
Future Directions ◽  
Neurocutaneous Disorder ◽  
The Status ◽  
The Brain

Tuberous sclerosis complex (TSC) is a disease, commonly classified as a neurocutaneous disorder, which may result in benign tumors throughout the brain and body, skin lesions, epilepsy, and cognitive/behavioral difficulties. Scientific discovery in TSC has resulted in the availability of treatments designed to target the neurobiological core of TSC in children. However, research is needed to determine if these treatments are effective for multiple aspects of the TSC phenotype in children. Current pediatric research studies have focused on the effects of early treatment of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions.

scholarly journals Tuberous Sclerosis: A Case Report

2017 ◽  
Vol 6 (2) ◽  
pp. 127-129
Author(s):  
Md Rashedul Islam ◽  
Tanbin Rahman ◽  
Rumana Habib ◽  
AMB Safdar ◽  
Aminur Rahman ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Early Recognition ◽  
Mortality Rates ◽  
Morbidity And Mortality ◽  
Complete Evaluation ◽  
Skin Manifestations ◽  
Multiple Organs

Tuberous sclerosis is a disorder affecting multiple organs leading to morbidity and mortality. It is important to make an early diagnosis of tuberous sclerosis so that lifelong monitoring, early recognition of complications and proactive treatment can lower the morbidity and mortality rates. Here we report a case of a 50-year-old male who presented with seizure. This case report emphasizes the importance of complete evaluation of a case presenting with seizures. Tuberous sclerosis must be included in the differentials if patient presents with seizures, skin manifestations and mental retardation.Birdem Med J 2016; 6(2): 127-129

scholarly journals Primary leptomeningeal melanocytosis: A case report with an autopsy diagnosis

2012 ◽  
Vol 69 (7) ◽  
pp. 631-634 ◽  
Author(s):  
Nikola Zivkovic ◽  
Dragan Mihailovic ◽  
Zaklina Mijovic ◽  
Maja Jovicic-Milentijevic
Keyword(s):  
Case Report ◽  
Skin Lesions ◽  
Histopathological Analysis ◽  
Rare Tumor ◽  
Resonance Imaging ◽  
Cerebrospinal Fluid Analysis ◽  
Fluid Analysis ◽  
Average Survival ◽  
Autopsy Diagnosis ◽  
Pigmented Skin Lesions

Introduction. Primary melanocytosis of the leptomeninges is a rare tumor, most likely originating from the melanocytes in the leptomeninges. The average survival is only about 5 months. Case report. A 61- years-old woman presented with headache, amaurosis and hallucinations lasted for two months, and she had been treated at the Clinic for Psychiatry and Clinic for Infectious Diseases. The cerebrospinal fluid analysis showed a lower level of glucose and a higher level of proteins. Small shaded areas of basal leptomeninges and hydrocephalus were found by computed tomography and magnetic resonance imaging. The autopsy showed a dark brown mass on basal leptomeninges with blurred boundaries. No pigmented skin lesions were found. Histopathological analysis revealed a primary leptomeningeal melanocytosis. Conclusion. Primary leptomeningeal melanocytosis is a rare tumor, difficult to diagnose. This case is being presented for its specificity, since this diagnosis is not frequently seen in practice.

4. Tuberous Sclerosis Presenting as a Suspicious Sudden Death — A Case Report and Review of Sudden Deaths in Epilepsy

1992 ◽  
Vol 32 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Lloyd N Denmark
Keyword(s):  
Case Report ◽  
Sudden Death ◽  
Tuberous Sclerosis ◽  
Neck Muscles ◽  
Idiopathic Epilepsy ◽  
The Past ◽  
Low Levels ◽  
The Brain ◽  
Caucasian Female

A case of a suspicious sudden death in a 19-year-old Caucasian female epileptic is presented The brain showed characteristic lesions of tuberous sclerosis. In most sudden deaths in idiopathic epilepsy no causative lesion is found in the brain A review of the past five years' cases attributed to sudden deaths in epilepsy from our department is presented, with particular reference to findings which might be construed as suspicious, e.g., signs of asphyxia and bruising in neck muscles, and to findings which support the diagnosis, e.g. biting of the tongue, voiding of urine, low levels of medication.

scholarly journals Management of Maxillary Mucormycosis - A Case Report in Bangladesh

2015 ◽  
Vol 27 (1) ◽  
pp. 38-40
Author(s):  
Quazi Billur Rahman ◽  
Muhammad Mizanur Rahaman ◽  
Ashik Abdullah Imon ◽  
Md Atiqul Islam Rabby ◽  
MA Jalil Chowdhury
Keyword(s):  
Risk Factor ◽  
Case Report ◽  
Early Diagnosis ◽  
Severe Infection ◽  
Causative Organism ◽  
Mortality And Morbidity ◽  
Prompt Treatment ◽  
Common Presentation ◽  
Life Threatening ◽  
The Brain

Mucormycosis refers to several different disease caused by infection in the order of mucorales. Rhizopus species are the most common causative organism. Most mucormycosis infections are life-threatening and risk factor such as diabetic ketoacidosis and neutropenia, are present in most cases. Severe infection of the facial sinuses, which may extend into the brain, is the most common presentation. We describe our clinical experience with a case of mucormycosis of the maxilla. Early diagnosis and prompt treatment can significantly reduce the mortality and morbidity of this lethal fungal infection. MedicineToday 2015 Vol.27(1): 38-40

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