Fibromuscular dysplasia with unilateral renal agenesis

Fibromuscular dysplasia (FMD) is predominantly diagnosed in women and is a congenital malformation damaging the arterial cell walls of numerous arteries, most prominently impacting the renal arteries. Although previously believed to be a disease of young women, older patients have been shown to make up a large percentage of this patient population as well. FMD is underdiagnosed, and the misdiagnosis of this disease has life-threatening consequences. Here, we present the case of a 24-year-old woman with hypertension who did not receive adequate workup until her symptoms were unrelenting. Her hypertension was presumed to be a result of her generalised anxiety disorder. However, once she began to experience vision changes and significant headaches, further workup ensued. This case exemplifies the importance of performing a thorough evaluation of all patients that present with hypertension of unknown origin, especially young women. To decrease the risk of permanent consequences such as strokes, renal failure and even death, the correct diagnosis of FMD is vital.

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The case of systemic mastocytosis in the practice of the allergist-immunologist

Rossiiskii Allergologicheskii ZHurnal ◽

10.36691/rja435 ◽

2015 ◽

Vol 12 (4) ◽

pp. 35-38

Author(s):

L G Khludova ◽

T N Myasnikova ◽

T S Romanova ◽

T V Latysheva

Keyword(s):

Drug Allergy ◽

Systemic Mastocytosis ◽

Drug Hypersensitivity ◽

Correct Diagnosis ◽

Unknown Origin ◽

Field Of View ◽

Long Time ◽

Life Threatening ◽

Anaphylactoid Reactions ◽

Excessive Proliferation

Mastocytosis is a disease caused by excessive proliferation of mast cells, and it can lead to anaphylactoid reactions. Different mechanisms are involving in the development of anaphylactoid and anaphylactic reactions, however, these reactions have a similar clinical picture. Therefore, patients with mastocytosis can get into the field of view of an allergist-immunologist with suspects insect, food, drug allergy or anaphylaxis of unknown origin. It’s important not only to suggest the correct diagnosis, but also to give the patient the recommendation to reduce the risk of life-threatening reactions. In this article the case of systemic mastocytosis without skin manifestations, which has been regarded for a long time by physicians as drug hypersensitivity is considered.

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Renal Abnormalities in Schoolchildren

PEDIATRICS ◽

10.1542/peds.84.6.1086 ◽

1989 ◽

Vol 84 (6) ◽

pp. 1086-1090

Author(s):

Chung-Pin Sheih ◽

Mong-Bing Liu ◽

Cheng-Shen Hung ◽

Kun-Hou Yang ◽

Wan-Yu Chen ◽

...

Keyword(s):

Total Population ◽

Renal Agenesis ◽

Correct Diagnosis ◽

Epidemiologic Study ◽

Ectopic Kidney ◽

Renal Ultrasonography ◽

Renal Abnormality ◽

Unilateral Renal Agenesis ◽

The City ◽

Renal Abnormalities

To establish prevalence of some renal abnormalities in schoolchildren, an epidemiologic study of 132 686 schoolchildren, including 69 903 boys and 62 783 girls, was conducted from March 1987 to May 1988 in the city of Taipei. At the health station of each school, the students were screened quickly by a physician with portable real-time ultrasound equipment. When a renal abnormality was detected or suspected, the examinee was referred to Taipei Municipal Women and Children's Hospital for further investigation. Radiologic and urologic procedures were then selectively performed to establish the correct diagnosis. Renal abnormalities were detected in 645 students (approximately 0.5% of total population screened). There were 256 cases of hydronephrosis, 103 cases of unilateral renal agenesis, 128 cases of unilateral small kidney, 90 cases of renal cystic disorders, 30 cases of ectopic kidney, and 38 cases of other abnormalities. Surgically correctable lesions were demonstrated in 50 of these students. Rapid renal ultrasonography was found to effectively detect some renal abnormalities initially, and prevalence could then be established after further investigations.

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HERLYN-WERNER-WUNDERLICH SYNDROME-ROLE OF IMAGING IN TIMELY AND CORRECT DIAGNOSIS

Pakistan Armed Forces Medical Journal ◽

10.51253/pafmj.v71i1.3740 ◽

2021 ◽

Vol 71 (1) ◽

pp. 364-66

Author(s):

Hidayat Ullah ◽

Atiq Ur Rehman Slehria ◽

Rashid Mahmood ◽

Jehan Akbar

Keyword(s):

Renal Agenesis ◽

Imaging Modality ◽

Correct Diagnosis ◽

Lower Abdominal Pain ◽

Pelvic Mass ◽

Young Female ◽

Unilateral Renal Agenesis ◽

Uterus Didelphys ◽

Timely Diagnosis

We present this case of uterus didelphys with right sided haematometrocolpos due to obstructed hemivaginaand ipsilateral renal agenesis-Herlyn Werner Wunderlich syndrome. The condition was missed on ultrasoundand diagnosed on plain CT scan abdomen and pelvis. This syndrome should be kept in mind while dealing witha young female complaining of lower abdominal pain and a pelvic mass having unilateral renal agenesis and anipsilateral pelvic cystic lesion on ultrasound or other imaging modality. Timely diagnosis is important to avoidcomplications like pyocolpos and retrograde spilling of blood with consequent endometriosis. Imaging plays amajor role in a correct and timely diagnosis.

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Ultrasound diagnosis of dissecting thoracic aortic aneurysms: procedure with a handheld device and a video-illustrated case

Tropical Doctor ◽

10.1177/0049475520959906 ◽

2021 ◽

Vol 51 (1) ◽

pp. 10-15

Author(s):

Kenneth V Iserson ◽

Sri Devi Jagjit ◽

Balram Doodnauth

Keyword(s):

Aortic Dissection ◽

Correct Diagnosis ◽

Signs And Symptoms ◽

Aortic Aneurysms ◽

Thoracic Aortic Aneurysms ◽

Handheld Device ◽

Thoracic Aortic Dissection ◽

Threatening Condition ◽

Life Threatening ◽

Handheld Ultrasound

Acute thoracic aortic dissection is an uncommon, although not rare, life-threatening condition. With protean signs and symptoms that often suggest more common cardiac or pulmonary conditions, it can be difficult to diagnose. Ultrasound has proven useful in making the correct diagnosis. This case demonstrates that training gained using standard ultrasound machines can be easily and successfully adapted to newer handheld ultrasound devices. The examination technique using the handheld device is illustrated with photos and a video.

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Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽

10.3390/diagnostics11020218 ◽

2021 ◽

Vol 11 (2) ◽

pp. 218

Author(s):

Antonella Cacchione ◽

Alessia Carboni ◽

Mariachiara Lodi ◽

Rita De Vito ◽

Andrea Carai ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Correct Diagnosis ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Detection Techniques ◽

Life Threatening ◽

Magnetic Resonance Imaging Mri ◽

Diagnostic Work ◽

Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

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Renal Dysplasia with Unilateral Renal Agenesis in a Dog

Journal of Comparative Pathology ◽

10.1016/j.jcpa.2005.01.002 ◽

2005 ◽

Vol 133 (1) ◽

pp. 64-67 ◽

Cited By ~ 8

Author(s):

T. Morita ◽

Y. Michimae ◽

M. Sawada ◽

T. Uemura ◽

Y. Araki ◽

...

Keyword(s):

Renal Agenesis ◽

Renal Dysplasia ◽

Unilateral Renal Agenesis

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Approach to the Cardiovascular Patient

10.2310/im.1074 ◽

2013 ◽

Author(s):

Catherine M. Otto ◽

David M Shavelle

Keyword(s):

Physical Examination ◽

Diagnostic Tests ◽

Clinical Status ◽

Correct Diagnosis ◽

Complete Evaluation ◽

Treatment Expectations ◽

Cardiovascular Patient ◽

Life Threatening ◽

Background History ◽

Cardiac Testing

The complete evaluation of the cardiovascular patient begins with a thorough history and a detailed physical examination. These two initial steps will often lead to the correct diagnosis and assist in excluding life-threatening conditions. The history and physical examination findings should be assessed in the overall clinical status of the patient, including the patient's specific complaints, lifestyle, comorbidities, and treatment expectations. This chapter discusses the cardiovascular conditions that frequently require evaluation: chest pain, dyspnea, palpitations, syncope, claudication, and cardiac murmurs; and reviews the background, history and physical examination, and diagnostic tests available for each. Diagnostic algorithms are provided, and the appropriate use of invasive and noninvasive cardiac testing for each condition is discussed. This review contains 8 highly rendered figures, 12 tables, and 52 references.

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Rosai-Dorfman Disease of the Parotid Gland

Archives of Pathology & Laboratory Medicine ◽

10.5858/2001-125-1348-rddotp ◽

2001 ◽

Vol 125 (10) ◽

pp. 1348-1350

Author(s):

Ridas Juskevicius ◽

James L. Finley

Keyword(s):

Salivary Gland ◽

Lupus Erythematosus ◽

Plasma Cells ◽

Correct Diagnosis ◽

Unknown Origin ◽

Needle Aspiration ◽

Major Salivary Gland ◽

Massive Lymphadenopathy ◽

Rosai Dorfman Disease ◽

Mixed Inflammatory Infiltrate

Abstract Rosai-Dorfman disease is a rare histiocytic proliferative disorder of unknown origin and a distinct clinicopathologic entity also known as sinus histiocytosis with massive lymphadenopathy. The disease can involve extranodal tissues and rarely can present as salivary gland enlargement without significant lymphadenopathy. Involvement of the extranodal head and neck sites appears to be more common in patients with immunologic abnormalities. The disease was first described in 4 patients in 1969, and with later descriptions of more patients, the disease was established as a well-defined clinicopathologic entity. The characteristic pathologic feature of this disease is proliferation of distinctive histiocytic cells that demonstrate emperipolesis in the background of a mixed inflammatory infiltrate, consisting of moderately abundant plasma cells and lymphocytes. Fine-needle aspiration biopsy can be helpful in establishing the correct diagnosis, since surgical treatment is not necessary other than obtaining tissue for definitive diagnosis. We describe cytologic, histopathologic, and immunohistochemical features of a case of Rosai-Dorfman disease that involved a major salivary gland without significant lymphadenopathy in a 48-year-old patient with systemic lupus erythematosus. We also briefly discuss possible causes and pathogenesis and review the literature.

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