Genetically determined neuropathy (CMT 1A) accompanied by immune dysfunction: a case report

ABSTRACT Current concepts regarding frontotemporal lobar degeneration (FTLD) have evolved rapidly in recent years. Genetically determined FTLD cohorts have broadened our knowledge pertaining to its clinical presentation, neuroimaging findings and demographics. In this study we present a case report of a patient diagnosed with behavioral variant frontotemporal dementia diagnosis in her nineties during hospital admission for a ground-level fall. We believe this case reinforces the pervasive nature of this clinical entity, and may contribute to an increased awareness of this diagnostic possibility in late-onset dementia.

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Husband and wife with sarcoidosis: possible environmental factors involved

Multidisciplinary Respiratory Medicine ◽

10.4081/mrm.2013.472 ◽

2013 ◽

Vol 8 ◽

Author(s):

Ilaria Leli ◽

Ivano Salimbene ◽

Francesco Varone ◽

Leonello Fuso ◽

Salvatore Valente

Keyword(s):

Case Report ◽

Environmental Factors ◽

Lymph Node Biopsy ◽

Host Factors ◽

Multisystem Disorder ◽

Node Biopsy ◽

Etiologic Agents ◽

Unclear Etiology ◽

Genetically Determined ◽

Chronic Lymphadenitis

Sarcoidosis is a granulomatous multisystem disorder of unclear etiology that involves any organ, most commonly the lung and the lymph nodes. It is hypothesized that the disease derives from the interaction between single or multiple environmental factors and genetically determined host factors. Multiple potential etiologic agents for sarcoidosis have been proposed without any definitive demonstration of causality. We report the case of two patients, husband (57 years old) and wife (55 years old), both suffering from sarcoidosis. They underwent a lymph node biopsy by mediastinoscopy which showed a “granulomatous epithelioid giant cell non-necrotising chronic lymphadenitis”. They had lived up to 3 years ago in the country in a farm, in contact with organic dusts, animals such as dogs, chickens, rabbits, pigeons; now they have lived since about 3 years in an urban area where there are numerous chemical industries and stone quarries. The aim of this case report was to focus on environmental factors that might be related to the pathogenesis of the sarcoidosis.

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Junctional Epidermolysis Bullosa of the Larynx

PEDIATRICS ◽

10.1542/peds.78.1.172 ◽

1986 ◽

Vol 78 (1) ◽

pp. 172-174

Author(s):

MARGARET A. KENNA ◽

SYLVAN E. STOOL ◽

SUSAN B. MALLORY

Keyword(s):

Case Report ◽

Epidermolysis Bullosa ◽

Minor Trauma ◽

Junctional Epidermolysis Bullosa ◽

First Case ◽

New Variant ◽

Genetically Determined ◽

Dermatologic Disease ◽

Hereditary Epidermolysis Bullosa ◽

Laryngeal Involvement

Epidermolysis bullosa is a rare genetically determined, dermatologic disease in which minor trauma causes blister formation.1 A new variant of hereditary epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional form, has been recently reported.2 Airway involvement has not been a notable feature of this disease. We report the first case of an infant having benign junctional epidermolysis bullosa with laryngeal involvement. CASE REPORT An 11-month-old white boy with known junctional epidermolysis bullosa and mild stridor since birth was referred by his dermatologist for increasing stridor of 24 hours duration. He was initially thought to have croup; however, conservative treatment with mist and racemic epinephrine did not improve his symptoms.

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Genetically determined drug-metabolizing activity and desipramine-associated cardiotoxicity: A case report

Clinical Pharmacology & Therapeutics ◽

10.1038/clpt.1993.13 ◽

1993 ◽

Vol 53 (1) ◽

pp. 89-95 ◽

Cited By ~ 22

Author(s):

Renata E Bluhm ◽

Grant R Wilkinson ◽

Richard Shelton ◽

Robert A Branch

Keyword(s):

Case Report ◽

Genetically Determined

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Inherited Epidermolysis Bullosa: A case report

Journal of Universal College of Medical Sciences ◽

10.3126/jucms.v3i3.24248 ◽

2015 ◽

Vol 3 (3) ◽

pp. 39-42 ◽

Cited By ~ 1

Author(s):

Shyam Kumar Mahato ◽

Susana Lama ◽

Nikhil Agarwal ◽

Nagendra Chaudhary

Keyword(s):

Case Report ◽

Epidermolysis Bullosa ◽

Neonatal Period ◽

Heterogeneous Group ◽

Mechanical Trauma ◽

Epidermolysis Bullosa Simplex ◽

Blister Formation ◽

Inherited Epidermolysis Bullosa ◽

Genetically Determined ◽

Degrees Of Severity

Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, mechano-bullous disorders characterized by blister formation in response to mechanical trauma. The blistering of the skin occurs in the varying degrees of severity and can severely incapacitate the life of the afflicted patient. Epidermolysis Bullosa Simplex (EBS), the most commonly occurring type, is dominantly inherited where treatment still remains a major challenge. We report a newborn female with blistering of the skin during the immediate neonatal period.

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Development of lymphangioleiomyomatosis in a female patient with Sjö gren's disease: a review of literature and a case report

Modern Rheumatology Journal ◽

10.14412/1996-7012-2019-2-119-123 ◽

2019 ◽

Vol 13 (2) ◽

pp. 119-123

Author(s):

Yu. I. Khvan ◽

S. G. Palshina ◽

V. I. Vasiliev

Keyword(s):

Case Report ◽

Female Patient ◽

Clinical Case ◽

Young Female ◽

Renal Angiomyolipoma ◽

Review Of Literature ◽

Review Of The Literature ◽

History Of ◽

Genetically Determined ◽

Sjögren’S Disease

Cystic and bullous lung transformation occurs in diseases of various origins: neoplastic, genetically determined, rheumatic, lymphoproliferative, and infectious diseases. The paper presents a review of the literature and a clinical case of a young female patient with a long history of Sjögren's disease. Fifteen years after the onset of the disease, the patient developed cystic and bullous lung transformation and renal angiomyolipoma, which are regarded as a manifestation of probable lymphangioleiomyomatosis.

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A case report of Graves’ disease following SARS-CoV-2 infection

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20212481 ◽

2021 ◽

Vol 8 (7) ◽

pp. 1260

Author(s):

John Rockett ◽

Colbert Nelson ◽

Robert Pierce ◽

Amie Van Morlan

Keyword(s):

Case Report ◽

Patient Outcomes ◽

Thyroid Disease ◽

Thyroid Dysfunction ◽

Pediatric Population ◽

Immune Dysfunction ◽

Graves Disease ◽

First Case ◽

The World ◽

Underlying Pathology

SARS-CoV-2 pandemic has had significant impacts on the world. The longer the pandemic continues the more we learn about the virus behind it and the post-infection complications. SARS-CoV-2 infections have been associated with immune dysfunction and thyroid disease. The spectrum of thyroid disease reported spans from subacute thyroiditis to Hashimoto’s thyroiditis. We report a 16-years-old patient whose COVID-19 infection was followed by multiple complications including the appearance of symptomatic Graves’ disease. Laboratory analysis was significant for elevated TSH, low free thyroxine, and antibodies consistent with the diagnosis of Graves’ disease. This is the first case of Graves’ disease after COVID-19 infection to be reported and the first case of thyroid dysfunction secondary to COVID-19 infection reported in the pediatric population. The spectrum of thyroid and autoimmune disease following COVID-19 is discussed. Further research into the underlying pathology behind COVID-19 infection and immune dysfunction will lead to expediated diagnosis and improved patient outcomes.

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A Child with Roberts Syndrome: A Case Report

Nepal Journal of Neuroscience ◽

10.3126/njn.v14i2.19734 ◽

2017 ◽

Vol 14 (2) ◽

pp. 39-42

Author(s):

Rajan K Sharma ◽

Gopal R Sharma ◽

Prakash Bista ◽

Rajiv Jha

Keyword(s):

Case Report ◽

Recurrence Risk ◽

Female Child ◽

Craniofacial Anomalies ◽

Craniofacial Abnormalities ◽

Radiological Features ◽

Limb Reduction ◽

Roberts Syndrome ◽

Genetically Determined ◽

Number Of Individuals

Roberts syndrome is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb defi ciency, it is important to be identified in order to give accurate genetic counseling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 9 year old female child who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome. Nepal Journal of Neuroscience, Vol. 14, No. 2, 2017 Page: 39-42

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Gardner’s syndrome (literature review and case report)

Pelvic Surgery and Oncology ◽

10.17650/2686-9594-2020-10-2-47-52 ◽

2020 ◽

Vol 10 (2) ◽

pp. 47-52

Author(s):

I. L. Chernikovskiy ◽

D. N. Korobkov ◽

N. V. Savanovich ◽

D. A. Chernikov ◽

P. V. Melnikov ◽

...

Keyword(s):

Case Report ◽

Soft Tissue ◽

Literature Review ◽

Soft Tissue Tumors ◽

Gardner's Syndrome ◽

Gardner’S Syndrome ◽

Treatment Methods ◽

Disease Epidemiology ◽

Genetically Determined

Gardner’s syndrome is a genetically determined disease characterized by a combination of colon polyposis, osteomas, and various soft tissue tumors. In this article, we discuss disease epidemiology, etiology, manifestations, and treatment methods. We also report a case of Gardner’s syndrome.

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