scholarly journals PeutzJeghers syndrome: A case report and literature review

2014 ◽  
Vol 4 (8) ◽  
pp. 677-679
Author(s):  
A Lakhey ◽  
H Shakya
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Physical Examination ◽  
Rectal Bleeding ◽  
Buccal Mucosa ◽  
Autosomal Dominant ◽  
Hamartomatous Polyps ◽  
Pigmented Lesions ◽  
History Of ◽  
Peutz Jeghers Syndrome

Peutz–Jeghers Syndrome is an autosomal dominant inheritedhamartomatous polyp. We present a case of a 5-year-old young boywith a history of per rectal bleeding and mass protruding out of the anus. Physical examination revealed presence of mucocutaneous pigmented lesions over the tongue, and few hamartomatous polyps protruding out of the rectum suggesting Peutz–Jeghers syndrome. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips,buccal mucosa and perioral skin, should alert the clinician to Peutz–Jeghers Syndrome.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11597 Journal of Pathology of Nepal; Vol.4,No. 8 (2014) 677-679

scholarly journals A 16-Year-Old Female with Peutz-Jeghers Syndrome

2014 ◽  
Vol 4 (3) ◽  
pp. 184-187
Author(s):  
Mufti Munsurar Rahman ◽  
Mamunur Rashid ◽  
Rukhsana Parvin ◽  
Arun Joyati Tarafder
Keyword(s):  
Abdominal Pain ◽  
Gastrointestinal Tract ◽  
Intestinal Obstruction ◽  
Buccal Mucosa ◽  
Autosomal Dominant ◽  
Previous History ◽  
Autosomal Dominant Disorder ◽  
Colicky Abdominal Pain ◽  
History Of ◽  
Peutz Jeghers Syndrome

Peutz-Jeghers syndrome is a rare autosomal dominant disorder of hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips and macules on the buccal mucosa that typically manifests itself as recurrent colicky abdominal pain and intestinal obstruction due to intussusception. Here we report a case of a 16-year-old girl who presented with abdominal pain, vomiting and previous history of laparotomy for intussusception. Multiple well demarcated black pigmented macules on lips, perioral region, buccal mucosa, digits, palms and soles were noted. She was diagnosed as a case of Peutz-Jeghers syndrome and managed conservatively. DOI: http://dx.doi.org/10.3329/jemc.v4i3.20958 J Enam Med Col 2014; 4(3): 184-187

scholarly journals Unexpected Peutz-Jeghers Syndrome in an Adult Presenting with Intermittent Upper Intestinal Obstruction. A Case Report

2014 ◽  
Vol 23 (1) ◽  
pp. 91-94
Author(s):  
Paula Szanto ◽  
Valentina Barbieru ◽  
Radu Badea ◽  
Teodora Pop ◽  
Ioana Rusu ◽  
...  
Keyword(s):  
Case Report ◽  
Gastrointestinal Tract ◽  
Intestinal Obstruction ◽  
Autosomal Dominant ◽  
Inherited Disease ◽  
Hamartomatous Polyps ◽  
Atypical Form ◽  
Hamartomatous Polyposis Syndromes ◽  
Polyposis Syndromes ◽  
Peutz Jeghers Syndrome

Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing the different possible syndrome phenotypes and the difficulty of their diagnosis.

scholarly journals Intravitreal Silicone Oil Migration Into the Lateral Cerebral Ventricles

2019 ◽  
Vol 3 (6) ◽  
pp. 466-473
Author(s):  
Jessica L. Cao ◽  
Andrew W. Browne ◽  
Thomas Clifford ◽  
Sumit Sharma ◽  
Vivek Patel
Keyword(s):  
Case Report ◽  
Retinal Detachment ◽  
Literature Review ◽  
Current Literature ◽  
Symptom Management ◽  
Silicone Oil ◽  
Cerebral Ventricles ◽  
Oil Migration ◽  
Intraocular Tamponade ◽  
History Of

Purpose: Silicone oil (SO) is often used as an intraocular tamponade in repairs of retinal detachments. It may be associated with complications such as cataract, glaucoma, keratopathy, subretinal migration of oil, fibrous epiretinal and sub retinal proliferations, and oil emulsification. The purpose of this report is to describe a rare phenomenon of intraocular silicone oil migration into the cerebral ventricles, which may later be mistaken for intraventricular hemorrhages on neuroimaging. Methods: Case report with literature review. Results: A patient with a history of retinal detachment repair with intraocular SO presented with headaches. Neuroimaging revealed SO migration to the cerebral ventricles. The patient was treated conservatively with symptom management and headaches resolved. Conclusions: We present a case of intraocular SO migration to the cerebral ventricles and review the current literature. We also propose two mechanisms for this phenomenon.

scholarly journals Ovarian Torsion after Hysterectomy: Case Report and Concise Review of the Reported Cases

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Demetrio Larraín ◽  
Andrés Casanova ◽  
Iván Rojas
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Literature Review ◽  
Rare Event ◽  
Laparoscopic Hysterectomy ◽  
Acute Onset ◽  
Ovarian Torsion ◽  
Adnexal Torsion ◽  
Concise Review ◽  
History Of

Ovarian torsion after hysterectomy is a rare event. The diagnosis of ovarian torsion is challenging because symptoms are nonspecific. We present a case of ovarian torsion 2 years after laparoscopic hysterectomy (LH). Furthermore, we performed a literature review about ovarian torsion after hysterectomy. This case shows that, in cases of acute onset pelvic pain in patients with history of hysterectomy, the adnexal torsion must be kept in mind in the differential diagnosis, especially in those women who had undergone LH.

scholarly journals Graham-Little Piccardi Lassueur Syndrome: case report

2012 ◽  
Vol 87 (5) ◽  
pp. 775-777 ◽  
Author(s):  
Raquel Bissacotti Steglich ◽  
Renata Elise Tonoli ◽  
Giselle Martins Pinto ◽  
Fernanda Melo Müller ◽  
Isabelle Maffei Guarenti ◽  
...  
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Hair Follicles ◽  
Rare Disorder ◽  
Rare Syndrome ◽  
Scarring Alopecia ◽  
History Of

A 33-year-old woman presented with a 3-year history of progressive alopecia of the scalp. Past treatment with hydroxicloroquine did not show improvement. Physical examination revealed multiple areas of alopecia with atrophic aspect of the scalp, and axillary and pubic hypotrichosis. Dermoscopy showed hyperkeratosis and accentuation of follicular ostia. Anatomopathological examination revealed decrease in the number of hair follicles, upper perifollicular infiltrate and areas with fibrosis. The Piccardi-Lassueur-Graham-Little syndrome is a rare disorder, characterized by the triad of multifocal scarring alopecia of the scalp, keratotic follicular eruption and hypotrichosis of axillary and pubic regions. Management is a challenge and many medications tried have controversial results. We report a case of this rare syndrome which improved with corticoids.

scholarly journals Non-painful severe variant form of eruptive lingual papillitis: A case report and literature review

2021 ◽  
Vol 13 (2) ◽  
Author(s):  
Manal Ahmed Halwani
Keyword(s):  
Emergency Department ◽  
Case Report ◽  
Literature Review ◽  
Oral Hygiene ◽  
Rare Case ◽  
Dorsal Surface ◽  
Variant Form ◽  
Girl Child ◽  
Rare Case Report ◽  
History Of

Eruptive lingual papillitis is a common benign disorder manifested by inflammation of fungiform papillae on the dorsolateral surface of the tongue. Several variants of lingual papillitis have been reported since 1997, most or all of them with painful erythematous papules. Here we report a case of 6 years old girl child with non-painful severe variant form of eruptive lingual papillitis presented to the emergency department. The entire dorsal surface of the tongue was surfaced by 2-3mm by multiple erythematous papules and some with a white or yellowish colour. The papules were excessively inflamed, pigmented, aggregated, and crusted. The cause was idiopathic which resolved within ten days. The parent and patient were reassured with advice to practice oral hygiene. This is a rare case report describing non-painful lingual papillitis without a history of any prior episodes.

scholarly journals Abdominal intussusception associated with coeliac disease: case report and literature review

2021 ◽  
Author(s):  
Rashid Hameed ◽  
Noshine Irrum ◽  
Subodhini P. Arachchige ◽  
Edwin Tan ◽  
Jacinta Tobin
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Literature Review ◽  
Coeliac Disease ◽  
Recurrent Abdominal Pain ◽  
Immune Infiltration ◽  
Disease Case ◽  
Classical Pattern ◽  
History Of

In genetically susceptible individuals, gluten ingestion triggers and immune infiltration and bowel damage in the classical pattern of coeliac disease, with variable symptoms. Intussusception is a condition where one segment of intestine ‘telescopes’ inside of another portion of intestine, which may cause symptoms of abdominal pain due to obstruction. Intussusception has been associated with coeliac disease. We report a 4-year-old girl presented with recurrent abdominal pain of variable severity and found to have intussusception on two occasions, which on both occasions reduced spontaneously during ultrasound examinations. She was later diagnosed with coeliac disease. This case highlights the importance of considering coeliac screening in patients with a history of recurrent abdominal pain and intussusception.

scholarly journals Muir-Torre Syndrome: case report and molecular characterization

2014 ◽  
Vol 132 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Carolina Alejandra Rios ◽  
Ricardo Villalon ◽  
Jorge Munoz ◽  
Monica Acuna ◽  
Lucia Cifuentes
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Treatment Options ◽  
Skin Lesions ◽  
Molecular Techniques ◽  
Causative Mutation ◽  
Colorectal Tumors ◽  
History Of ◽  
Repair Genes ◽  
Microsatellite Instability Analysis

CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and urogenital tract. Awareness of this syndrome among physicians can lead to early diagnosis of these malignancies and a better prognosis. CASE REPORT: We report the case of a Chilean patient who, over the course of several years, had multiple skin lesions, endometrial cancer and colon cancer. The syndrome was diagnosed using molecular techniques such as microsatellite instability analysis, immunohistochemistry and DNA sequencing, which allowed us to find the causative mutation. CONCLUSION: Molecular diagnostics is a highly useful tool, since it allows clinicians to confirm the presence of mutations causing Muir-Torre syndrome. It is complementary to the analysis of the clinical data, such as dermatological presentation, presence of visceral malignancies and family history of colorectal tumors, and it provides important knowledge to help physicians and patients choose between treatment options.

scholarly journals Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Manuela Quiroga-Carrillo ◽  
Cristian Correa-Arrieta ◽  
Fernando Ortiz-Corredor ◽  
Fernando Suarez-Obando
Keyword(s):  
Physical Activity ◽  
Case Report ◽  
Literature Review ◽  
Point Mutation ◽  
Gene Mutation ◽  
Musculoskeletal Disorder ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

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