scholarly journals Clinical diagnosis of Bardet-Biedl syndrome: A case report

eOftalmo ◽  
2018 ◽  
Vol 4 (4) ◽  
Author(s):  
Natália Maia de Faria ◽  
Lívia Freire Reis ◽  
Josué Geraldo Lessa
Keyword(s):  
Case Report ◽  
Clinical Diagnosis ◽  
Bardet Biedl Syndrome

scholarly journals Penile Mondor’s disease: a case report

2013 ◽  
pp. 37-39
Author(s):  
M. Bolognesi
Keyword(s):  
Case Report ◽  
Clinical Diagnosis ◽  
General Practitioners ◽  
Correct Diagnosis ◽  
Complete Recovery ◽  
Benign Condition ◽  
Dorsal Vein ◽  
Mondor’S Disease ◽  
Mondor's Disease ◽  
Appropriate Therapy

CASE REPORT This article describes a case report with a review of the symptomatology diagnosis, and treatment of thrombophlebitis in the superficial dorsal vein of the penis. Penile Mondor’s disease is a benign condition, and after appropriate therapy, near complete recovery takes place within three weeks. DISCUSSION Thrombophlebitis of the superficial dorsal vein of the penis (Penile Mondor’s disease) is a rare, but important clinical diagnosis that any physician, and in particular general practitioners, should be able to recognize. Indeed, correct diagnosis and consequent reassurance can help to control the anxiety typically experienced by patients suffering from the disease.

scholarly journals A 13-year-old Female with Bardet- Biedl Syndrome - A Case Report

2015 ◽  
Vol 26 (1) ◽  
pp. 31-34
Author(s):  
Syed Nesar Ahmed ◽  
Md Abu Shahin ◽  
Romal Chowdhury ◽  
Alamgir Mustak Ahammad ◽  
Md Nahiduzzaman Shazzad ◽  
...  
Keyword(s):  
Case Report ◽  
Retinitis Pigmentosa ◽  
Rare Disease ◽  
Clinical Features ◽  
Night Blindness ◽  
Learning Difficulties ◽  
Laboratory Findings ◽  
Bardet Biedl Syndrome

Bardet Biedl syndrome is a rare disease. A case report is presented here where a 13 years old girl presented with obesity, night blindness, learning difficulties and polydactyly. Obesity and night blindness started from since childhood. Her milestones of development were normal but having some learning difficulties. Her parents are healthy as well as her siblings. On examination she looks apathy, extreme obese, having polydactyly and retinitis pigmentosa and high B.P. On laboratory findings there is only dyslipidaemia. On the basis of clinical features she was diagnosed as a case of Bardet-Biedl syndrome.Bangladesh J Medicine Jan 2015; 26 (1) : 31-34

Tuboovarian Abscess Presenting as Sciatic Pain: Case Report

Neurosurgery ◽  
1987 ◽  
Vol 21 (1) ◽  
pp. 100-103 ◽  
Author(s):  
David W. Andrews ◽  
Neil B. Friedman ◽  
Linda Heier ◽  
Amelia Erickson ◽  
Michael H. Lavyne
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Conservative Treatment ◽  
Clinical Diagnosis ◽  
Epidural Abscess ◽  
Diagnosis And Treatment ◽  
Low Grade ◽  
First Report ◽  
Sciatic Pain ◽  
Tuboovarian Abscess

Abstract The authors report the successful conservative treatment of a tuboovarian abscess in a 25-year old woman who presented with low grade fever and severe right sciatic pain. Computed tomography and ultrasonography corroborated a clinical diagnosis of tuboovarian abscess after an initial diagnosis of epidural abscess had been made. This is the first report of a tuboovarian abscess presenting principally as sciatic pain. The diagnosis and treatment of this lesion are discussed. (Neurosurgery 21: 100-103, 1987)

NEONATAL NECROTIZING ENTEROCOLITIS—OLD PIT-FALL OR NEW PROBLEM?

PEDIATRICS ◽  
1971 ◽  
Vol 48 (3) ◽  
pp. 345-348
Author(s):  
George H. Fetterman
Keyword(s):  
Case Report ◽  
Clinical Diagnosis ◽  
Necrotizing Enterocolitis ◽  
Early Stage ◽  
Newborn Infants ◽  
Full Term ◽  
European Literature ◽  
Original Case ◽  
Neonatal Necrotizing Enterocolitis

No pediatrician with responsibility for the care of newborn infants, premature or full term, can fail to be interested in the syndrome of neonatal necrotizing enterocolitis. The recent outpouring of reports concerning the disease attests not only to the growing recognition of the problem but also the immediacy of the challenge which it presents. The challenge is twofold, demanding clinical diagnosis of the disease at an early stage as well as study directed toward the elucidation of its etiology and pathogenesis. The most quoted articles from the European literature are Genersich's1 original case report in 1891, the series of 62 cases described by Willi2 in 1944, and the series reported by Rossier, et al.3 in 1959.

scholarly journals A Case of Hydrometrocolpos and Polydactyly

2015 ◽  
Vol 9 ◽  
pp. CMPed.S20787 ◽  
Author(s):  
Deepak Sharma ◽  
Srinivas Murki ◽  
Oleti Tejo Pratap ◽  
G.M. Irfan ◽  
Geeta Kolar
Keyword(s):  
Case Report ◽  
Retinal Degeneration ◽  
Renal Dysplasia ◽  
Mullerian Duct ◽  
Mental Impairment ◽  
Bardet Biedl Syndrome ◽  
Cardiac Anomalies ◽  
Postaxial Polydactyly ◽  
Müllerian Duct Anomaly ◽  
Stimulation Of

Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. A triad of congenital HMC, Polydactyly, and cardiac anomalies are the cardinal features of McKusick-Kaufman syndrome, which is also known as hydrometrocolpos-polydactyly syndrome. Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment. In this case report, we describe a neonate with HMC, Polydactyly, and hydronephrosis.

scholarly journals Brachyonychia in a patient with Bardet-Biedl syndrome: Case report and review of this rare syndrome

2019 ◽  
Vol 5 (8) ◽  
pp. 672-674
Author(s):  
Shannon Q. Detty ◽  
Molly A. Hinshaw ◽  
Michael J. Tuite ◽  
Alexander D. Means
Keyword(s):  
Case Report ◽  
Bardet Biedl Syndrome ◽  
Rare Syndrome
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