Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient

Gama, Ivo; Soares‐de‐Almeida, Luís

doi:10.1136/bcr-2016-217974

Cited by 4 publications

(15 citation statements)

References 32 publications

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“…The dysplastic, cerebral ganglion cell tumour LDD is a significant pathological diagnostic criterion for PHTS [ 40 , 74 , 96 ]. To rule out its potential presence, it is recommended that patients presenting with headaches undergo MRI of the brain, as has been stated in multiple sources [ 61 , 65 , 67 ]. While ovarian tumours are a rare occurrence in PHTS, this possibility should not be overlooked as an ovarian dysgerminoma has been documented in a patient with PHTS [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review

et al. 2023

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Background PTEN hamartoma tumour syndrome (PHTS) is a rare hereditary disorder caused by germline pathogenic mutations in the PTEN gene. This study presents a case of PHTS referred for genetic evaluation due to multiple polyps in the rectosigmoid area, and provides a literature review of PHTS case reports published between March 2010 and March 2022. Case presentation A 39-year-old Iranian female with a family history of gastric cancer in a first-degree relative presented with minimal bright red blood per rectum and resistant dyspepsia. Colonoscopy revealed the presence of over 20 polyps in the rectosigmoid area, while the rest of the colon appeared normal. Further upper endoscopy showed multiple small polyps in the stomach and duodenum, leading to a referral for genetic evaluation of hereditary colorectal polyposis. Whole-exome sequencing led to a PHTS diagnosis, even though the patient displayed no clinical or skin symptoms of the condition. Further screenings identified early-stage breast cancer and benign thyroid nodules through mammography and thyroid ultrasound. Method and results of literature review A search of PubMed using the search terms “Hamartoma syndrome, Multiple” [Mesh] AND “case report” OR “case series” yielded 43 case reports, predominantly in women with a median age of 39 years. The literature suggests that patients with PHTS often have a family history of breast, thyroid and endometrial neoplasms along with pathogenic variants in the PTEN/MMAC1 gene. Gastrointestinal polyps are one of the most common signs reported in the literature, and the presence of acral keratosis, trichilemmomas and mucocutaneous papillomas are pathognomonic characteristics of PHTS. Conclusion When a patient presents with more than 20 rectosigmoid polyps, PHTS should be considered. In such cases, it is recommended to conduct further investigations to identify other potential manifestations and the phenotype of PHTS. Women with PHTS should undergo annual mammography and magnetic resonance testing for breast cancer screening from the age of 30, in addition to annual transvaginal ultrasounds and blind suction endometrial biopsies.

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Section: Discussionmentioning

confidence: 99%

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review

et al. 2023

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“…Gross total resection is frequently considered to be the foremost treatment of choice. However, due to the absence of a clear margin between normal cerebellum and the tumor intraoperatively, total surgical resection remains challenging, subtotal or partial resection common in the literature [1,17].…”

Section: Discussionmentioning

confidence: 99%

“…The prognosis of Lhermitte-Duclos disease has improved over time with advances in neuroimaging, anesthesia, and neurosurgical technique [17,18].…”

Section: Discussionmentioning

confidence: 99%

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Unique association of Lhermitte–Duclos disease and frontal encephalocele

Bellamlih¹,

Aymane²,

Moulay³

et al. 2019

Int J Case Rep Images

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Lhermitte-Duclos disease, also known as dysplastic gangliocytoma of the cerebellum, is an extremely rare cerebellar tumor characterized by an enlargement of cerebellar folia. Its etiology remains controversial. Imaging modalities, especially magnetic resonance imaging, contribute to establish a correct and accurate diagnosis with pre and postoperative assessment. The characteristic "tiger striping" appearance is pathognomonic. The recognition of this unusual and benign condition is particularly important, given the possible association with Cowden's syndrome and therefore the need to identify concurrent malignancies.To our knowledge, we describe a rare and unique presentation of histologically proven Lhermitte-Duclos disease associated with a frontal encephalocele surgically treated.

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“…Sources: [1,3,4,8,9,11,12,14] Regarding the case presented here, extra preparedness was taken in order to limit injury and prevent respiratory compromise. For example, key resources such as a difficult airway cart, multiple strategies to assist with intubation, and experienced anesthesia providers were all readily available during the case.…”

Section: Figure 1: Anatomic Overview Of Rdd Cs and Lddmentioning

confidence: 99%

Anesthetic Management for a Patient with Rosai-Dorfman Disease, Cowden Syndrome, and Lhermitte-Duclos Disease: An Extremely Rare Disease Combination

Weeden,

Mahil,

Huang

2023

Cureus

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Rosai-Dorfman disease (RDD) is a rare condition that causes massive lymphadenopathy, most commonly in the cervical area. Cowden syndrome (CS) causes hamartomas in the skin and mucosa and predisposes individuals to various malignancies. Lhermitte-Duclos disease (LDD), or dysplastic cerebellar gangliocytoma, is often associated with CS. A 41-year-old female with all three conditions presented with abnormal uterine bleeding and endometrial intraepithelial neoplasia (EIN). Precautions should be considered when evaluating patients with RDD and CS preoperatively and during airway management owing to the potential for multisystem involvement, anatomical distortion, and difficult airways. The likelihood of having all three conditions is extremely rare.

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Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient

Cited by 4 publications

References 32 publications

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review

Unique association of Lhermitte–Duclos disease and frontal encephalocele

Anesthetic Management for a Patient with Rosai-Dorfman Disease, Cowden Syndrome, and Lhermitte-Duclos Disease: An Extremely Rare Disease Combination

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