scholarly journals Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) During Pregnancy: Case Report and Review of the Literature

2017 ◽  
Vol 2 (1) ◽  
Author(s):  
Mauricio La Rosa De Los Rio ◽  
Corrina Oxford ◽  
Harish Sehdev
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Review Of The Literature

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Congenital Bilateral Shoulder Dimples in a Newborn Case report and Review of the literature

2020 ◽  
pp. 1-2
Author(s):  
Amin N A Soofi ◽  
◽  
Ola Abdelhadi ◽  
Abdelhadi Abdelhadi ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Family History ◽  
Cocaine Abuse ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Normal Range ◽  
Autosomal Dominant Pattern ◽  
New Born ◽  
Dominant Pattern ◽  
Normal Baby

Congenital Acromial or Shoulder dimples are cutaneous depressions overlying the acromial process of the scapula. They are usually bilateral and symmetrical. Isolated biacromial dimples are usually benign and warrant no further investigations. Family history in an autosomal dominant pattern, as in our case, is frequently obtainable but the majority of isolated bilateral shoulder dimples are sporadic. There are few reports of syndromic associations as well as two cases of associated maternal cocaine abuse. Our case is a term female neonate who was noted on routine new-born check to have bilateral symmetrical shoulder dimples. She was otherwise healthy, had normal range of shoulder movements and was not dysmorphic. On further assessment it transpired the father has the same bilateral shoulder dimples but was not aware of their existence. No further investigations were carried out. This case add to the few reported cases of Biacromial Dimples with autosomal pattern of inheritance in an otherwise normal baby

scholarly journals Novel Germline RUNX1 Mutation Associated with Familial Thrombocytopenia as well as B-Acute Lymphoblastic Leukemia: A Case Report and Review of the Literature

2021 ◽  
pp. 439-445
Author(s):  
Nabin Karki ◽  
Natasha Savage ◽  
Abdullah Kutlar
Keyword(s):  
Stem Cell ◽  
Case Report ◽  
Acute Lymphoblastic Leukemia ◽  
Malignant Transformation ◽  
Autosomal Dominant ◽  
Lymphoblastic Leukemia ◽  
Chromosomal Translocation ◽  
Review Of The Literature ◽  
Rare Form ◽  
Runx1 Mutation

Germline RUNX1 mutations lead to a rare form of autosomal-dominant familial thrombocytopenia with a predisposition for myeloid malignancies and are classified as distinct entities by the WHO. We report a case of B lymphoblastic leukemia developing in a patient with a familial RUNX1 mutation, which is a first in the literature. An FLT3-ITD mutation as well as a balanced chromosomal translocation t(1;7) was present at the time of diagnosis of leukemia, favoring the theory that additional hits or mutations are necessary for malignant transformation in patients with a germline RUNX1 mutation. The transformed disease runs an aggressive course compared to the same malignancy associated with a somatic RUNX1 mutation. Additionally, family members should be screened for the mutation, followed up clinically if they carry the mutation, and should not be used as stem cell donors to treat the affected relatives.

scholarly journals Hereditary Leukonychia Totalis: A Case Report and Review of the Literature

2018 ◽  
Vol 10 (1) ◽  
pp. 82-88
Author(s):  
Kallapan Pakornphadungsit ◽  
Poonkiat Suchonwanit ◽  
Tueboon Sriphojanart ◽  
Pamela Chayavichitsilp
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Predisposing Factors ◽  
Systemic Diseases ◽  
Review Of The Literature ◽  
Autosomal Dominant Pattern ◽  
Nail Matrix ◽  
Dominant Pattern ◽  
Associated Conditions

Leukonychia is defined as white discoloration of the nails caused by an abnormal keratinization of the nail matrix. Congenital leukonychia totalis is a rare nail disorder, which is typically inherited in an autosomal dominant pattern. This condition can be presented as an isolated condition or in association with systemic diseases. We report a case of a 7-year-old Thai boy who developed asymptomatic white discoloration of all the nails since birth, with an absence of any predisposing factors or associated conditions.

scholarly journals GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature

2019 ◽  
Vol 10 (4) ◽  
pp. 186-194 ◽  
Author(s):  
Milana Trubnykova ◽  
Jeny Bazalar Montoya ◽  
Jorge La Serna-Infantes ◽  
Flor Vásquez Sotomayor ◽  
María del Carmen Castro Mujica ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Dominant Type ◽  
Autosomal Dominant Type

scholarly journals Surgical dilemma of the management of breast cancer in a patient with neurofibromatosis: case report and a review of the literature

2020 ◽  
Vol 2020 (10) ◽  
Author(s):  
Miguel Johnson ◽  
Lorna Cook ◽  
Fabio Rapisarda ◽  
Riccardo Bonomi ◽  
Dibendu Betal
Keyword(s):  
Breast Cancer ◽  
Radiation Therapy ◽  
Case Report ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Skin Lesions ◽  
Review Of The Literature ◽  
Dominant Disease ◽  
Ongoing Surveillance

Abstract Neurofibromatosis type 1 (NF-1)—also commonly known as Von Recklinghausen’s disease—is an autosomal dominant disease that represents a constellation of clinical features. There are well-established links between NF-1 and many tumors; however, the link between NF-1 and breast cancer has more recently been elucidated. While the management of breast cancer is generally well established, there are unique challenges noted in patients with NF-1. There may be delayed presentations due to difficulty in differentiating underlying neurofibroma from a sinister breast mass. Additionally, multiple skin lesions seen in NF-1 create challenges in the interpretation of mammography. Furthermore, a surgical conundrum is created, as these patients appear to have a higher risk of angiosarcoma following radiotherapy. A mastectomy may be the best option as it obviates the need for radiation therapy and ongoing surveillance. A case exemplifying these dilemmas and a review of the literature are presented.

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