Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a MAFB Missense Variant and Natural History of the Disease

2021 ◽  
pp. 1-6
Author(s):  
Kelin Chen ◽  
Malú Zamariolli ◽  
Maria de Fátima de Faria Soares ◽  
Vera Ayres Meloni ◽  
Maria Isabel Melaragno

Multicentric carpotarsal osteolysis syndrome (MCTO; MIM #166300) is a rare skeletal disorder characterized by osteolysis affecting particularly the carpal, metacarpal, and tarsal bones, although other bones might be involved. MCTO is an autosomal dominant disease caused by heterozygous variants in the <i>MAFB</i> gene, frequently misdiagnosed as juvenile rheumatoid arthritis due to similar clinical manifestations. This study reports the first Brazilian family diagnosed with MCTO with progressive osteolysis of the carpal and tarsal bones, presenting a c.161C&#x3e;T (p.Ser54Leu) heterozygous variant in the <i>MAFB</i> gene, describing the clinical, radiological, and molecular findings, compared with literature data, and discussing the different clinical and molecular diagnosis, as well as the natural history of the disease. Since MCTO is a disorder with progressive symptoms, an early diagnosis is important to avoid unnecessary investigations and treatments and to provide the proper follow-up.

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 124-127 ◽  
Author(s):  
André Lencastre ◽  
Joana Cabete ◽  
Rui Gonçalves ◽  
Alexandre João ◽  
Ana Fidalgo

A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.


2019 ◽  
Vol 09 (02) ◽  
pp. 121-124
Author(s):  
Tomer Avnon ◽  
Ran Svirsky ◽  
Avi Orr-Urtreger ◽  
Liora Sagie ◽  
Aviva Fattal-Valevski ◽  
...  

AbstractMutations in the ryanodine receptor-1 (RYR1) may cause disorders inherited in an autosomal dominant/recessive fashion. Sequencing of RYR1 in an infant of Ashkenazi Jewish descent with severe hypotonia, dislocation of hip, torticollis and scoliosis, and paternal family history of autosomal dominant mild disease. The child was compound heterozygote for a missense variant c.7042G > A inherited from her father associated with autosomal dominant disease, and a missense variant of unknown significance c.5309C > T inherited from an asymptomatic mother. This case raises the possibility of a dominant disease complicated by a second variant in the other allele serving as a modifier.


2001 ◽  
Vol 120 (5) ◽  
pp. A128-A128 ◽  
Author(s):  
H MALATY ◽  
D GRAHAM ◽  
A ELKASABANY ◽  
S REDDY ◽  
S SRINIVASAN ◽  
...  

2019 ◽  
Author(s):  
Ayesha Shaikh ◽  
Natasha Shrikrishnapalasuriyar ◽  
Giselle Sharaf ◽  
David Price ◽  
Maneesh Udiawar ◽  
...  

Author(s):  
Valeria Ramundo ◽  
Giorgio Grani ◽  
Rocco Bruno ◽  
Giuseppe Costante ◽  
Domenico Meringolo ◽  
...  

2019 ◽  
Vol 24 (2) ◽  
pp. 184-189 ◽  
Author(s):  
Daniel-Alexandre Bisson ◽  
Peter Dirks ◽  
Afsaneh Amirabadi ◽  
Manohar M. Shroff ◽  
Timo Krings ◽  
...  

OBJECTIVEThere are little data in the literature on the characteristics and natural history of unruptured intracranial aneurysms in children. The authors analyzed their experience with unruptured intracranial aneurysms in the pediatric population at their tertiary care pediatric institution over the last 18 years. The first objective was to assess the imaging characteristics and natural history of these aneurysms in order to help guide management strategies in the future. A second objective was to evaluate the frequency of an underlying condition when an incidental intracranial aneurysm was detected in a child.METHODSThe authors conducted a Research Ethics Board–approved retrospective review of incidental intracranial aneurysms in patients younger than 18 years of age who had been treated at their institution in the period from 1998 to 2016. Clinical (age, sex, syndrome) and radiological (aneurysm location, type, size, thrombus, mass effect) data were recorded. Follow-up imaging was assessed for temporal changes.RESULTSSixty intracranial aneurysms occurred in 51 patients (36 males, 15 females) with a mean age of 10.5 ± 0.5 years (range 9 months–17 years). Forty-five patients (88.2%) had a single aneurysm, while 2 and 3 aneurysms were found in 3 patients each (5.8%). Syndromic association was found in 22 patients (43.1%), most frequently sickle cell disease (10/22 [45.5%]). Aneurysms were saccular in 43 cases (71.7%; mean size 5.0 ± 5.7 mm) and fusiform in the remaining 17 (28.3%; mean size 6.5 ± 2.7 mm). Thirty-one aneurysms (51.7%) arose from the internal carotid artery (right/left 1.4), most commonly in the cavernous segment (10/31 [32.3%]). Mean size change over the entire follow-up of 109 patient-years was a decrease of 0.6 ± 4.2 mm (range −30.0 to +4.0 mm, rate −0.12 ± 9.9 mm/yr). Interval growth (2.0 ± 1.0 mm) was seen in 8 aneurysms (13.3%; 4 saccular, 4 fusiform). An interval decrease in size (8.3 ± 10.7 mm) was seen in 6 aneurysms (10%). There was an inverse relationship between aneurysm size and growth rate (r = −0.82, p < 0.00001). One aneurysm was treated endovascularly with internal carotid artery sacrifice.CONCLUSIONSUnruptured pediatric intracranial aneurysms are most frequently single but can occur in multiples in a syndromic setting. None of the cases from the study period showed clinical or imaging signs of rupture. Growth over time, although unusual and slow, can occur in a proportion of these patients, who should be identified for short-term imaging surveillance.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Alcivan Batista de Morais Filho ◽  
Thiago Luis de Holanda Rego ◽  
Letícia de Lima Mendonça ◽  
Sulyanne Saraiva de Almeida ◽  
Mariana Lima da Nóbrega ◽  
...  

Abstract Hemorrhagic stroke (HS) is a major cause of death and disability worldwide, despite being less common, it presents more aggressively and leads to more severe sequelae than ischemic stroke. There are two types of HS: Intracerebral Hemorrhage (ICH) and Subarachnoid Hemorrhage (SAH), differing not only in the site of bleeding, but also in the mechanisms responsible for acute and subacute symptoms. This is a systematic review of databases in search of works of the last five years relating to the comprehension of both kinds of HS. Sixty two articles composed the direct findings of the recent literature and were further characterized to construct the pathophysiology in the order of events. The road to the understanding of the spontaneous HS pathophysiology is far from complete. Our findings show specific and individual results relating to the natural history of the disease of ICH and SAH, presenting common and different risk factors, distinct and similar clinical manifestations at onset or later days to weeks, and possible complications for both.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sara L Weidmayer ◽  
Hakan Demirci

Abstract Background The natural course of a vortex vein varix, though not well understood, has been known to remain stable. However, here we report a novel case of a vortex vein varix that resolved after an extended period of monitoring. Case presentation An asymptomatic 96-year-old Caucasian man was found to have a vortex vein varix. At his previous examination 13 months prior, his fundus was normal. At 13 months of observation, his vortex vein varix become clinically undetectable. Further follow-up confirmed continued absence of the varix. Conclusion This case demonstrates the development then clinical resolution of a vortex vein varix with no clear identifiable factors for its evolution. This case is novel and offers new insight into the natural history of some vortex vein varices, implicating venous congestion as an instigator and venous collateralization as its alleviator, suggesting that vortex vein varices are likely more common than previously reported since some may be temporary and under-identified.


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