Aortic root dilation in a child with Marfan syndrome and mosaic Turner syndrome

2020 ◽  
Vol 30 (12) ◽  
pp. 1976-1977
Author(s):  
Abraham Groner ◽  
Asad Qadir
Keyword(s):  
Turner Syndrome ◽  
Marfan Syndrome ◽  
Aortic Root ◽  
Single Gene ◽  
Long Term Follow Up ◽  
History Of ◽  
Independent Risk Factors ◽  
Genetic Combination

AbstractPatients with a known genetic cause of aortic root dilation usually have a single underlying aetiology, either a single gene defect as in Marfan syndrome or chromosomal anomaly as in Turner syndrome. However, it is possible, although unlikely, for a patient to inherit multiple independent risk factors for aortic root dilation. We describe such a patient, who inherited Marfan syndrome and a very unusual form of mosaic Turner syndrome. Long-term follow-up of this patient may provide insight into the natural history of this unique genetic combination.

The natural history of pituitary apoplexy: long term follow-up study

2019 ◽  
Author(s):  
Ayesha Shaikh ◽  
Natasha Shrikrishnapalasuriyar ◽  
Giselle Sharaf ◽  
David Price ◽  
Maneesh Udiawar ◽  
...  
Keyword(s):  
Natural History ◽  
Pituitary Apoplexy ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
History Of

ID: 3524040 THE NATURAL HISTORY OF AMPULLARY ADENOMAS IN FAMILIAL ADENOMATOUS POLYPOSIS SYNDROME: LONG-TERM FOLLOW-UP

2021 ◽  
Vol 93 (6) ◽  
pp. AB350
Author(s):  
Achintya D. Singh ◽  
Amit Bhatt ◽  
Abel Joseph ◽  
Neal Mehta ◽  
Gautam N. Mankaney ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Natural History ◽  
Adenomatous Polyposis ◽  
Polyposis Syndrome ◽  
Long Term Follow Up ◽  
History Of

Extramedullary Plasmacytoma of The Frontal Sinus: A Case Report

FACE ◽  
2021 ◽  
pp. 273250162110536
Author(s):  
Joshua Harrison ◽  
Samantha Marley ◽  
Shawhin Shahriari ◽  
Christian Bowers ◽  
Anil Shetty
Keyword(s):  
Frontal Sinus ◽  
Surgical Excision ◽  
Extramedullary Plasmacytoma ◽  
High Rate ◽  
Solitary Plasmacytoma ◽  
Case Presentation ◽  
Long Term Follow Up ◽  
History Of

We report a rare case of an extramedullary plasmacytoma (EMP) in the frontal sinus with an indolent clinical presentation. Although a history of trauma was absent, the initial diagnosis was a mucocele, based on the radiological findings. Upon surgical excision, the patient was found to have an EMP. EMP, a form of solitary plasmacytoma, has a significantly high rate of conversion to multiple myeloma. This mandates long-term follow-up, even after successful radiotherapy and/or resection. While radiation therapy is generally considered a first line treatment for EMP, surgical intervention may provide optimal treatment in complicated cases. This case presentation highlights the prognosis of patients diagnosed with EMP.

scholarly journals The cerebellar peduncle as localization of a recurrent atypical plexus papilloma: A case report

2019 ◽  
Vol 10 ◽  
pp. 65
Author(s):  
Christian Saleh ◽  
Stefanie Wilmes ◽  
Kristine Ann Blackham ◽  
Dominik Cordier ◽  
Kerstin Hug ◽  
...  
Keyword(s):  
Fourth Ventricle ◽  
Tumor Recurrence ◽  
Middle Cerebellar Peduncle ◽  
Long Term Follow Up ◽  
History Of ◽  
Cerebellar Peduncle ◽  
Left Middle ◽  
Plexus Papilloma

Background: Choroid plexus papillomas (CPPs) are infrequently encountered brain tumors with the majority originating in the ventricular system. Rarely, CPP occurs outside of the ventricles. Case Description: We report the case of a recurrent CPP that initially originated within the fourth ventricle, though years later it recurred in the left middle cerebellar peduncle. Conclusion: Patients with cerebellar plexus papilloma need long-term follow-up comprising regular magnetic resonance imagings since, in patients with a history of CPP, any new mild symptomatology, even years after the initial presentation, may be an early sign of tumor recurrence.

Mo1806 Natural History of Perianal Crohn's Disease: Long-Term Follow-Up on a Population-Based Cohort

2016 ◽  
Vol 150 (4) ◽  
pp. S781-S782
Author(s):  
Rabilloud Marie-Laure ◽  
Charlène Brochard ◽  
Emma Bajeux ◽  
Siproudhis Laurent ◽  
Jean-François Viel ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Natural History ◽  
Population Based ◽  
Perianal Crohn’S Disease ◽  
Long Term Follow Up ◽  
History Of ◽  
Perianal Crohn's Disease

Multiple Spinal Perimedullary Arteriovenous Fistulae Associated with the Parkes-Weber Syndrome

1998 ◽  
Vol 4 (2) ◽  
pp. 151-157 ◽  
Author(s):  
Y. Niimi ◽  
U. Ito ◽  
O. Tone ◽  
K. Yoshida ◽  
S. Sato ◽  
...  
Keyword(s):  
Lower Extremities ◽  
Arteriovenous Fistulae ◽  
Left Posterior ◽  
Weber Syndrome ◽  
Long Term Follow Up ◽  
History Of ◽  
One Year ◽  
Polyvinyl Alcohol Particles

We present a rare case of multiple spinal perimedullary arteriovenous fistulae associated with the Parkes-Weber (PW) syndrome. A 31-year-old male known to have the PW syndrome involving the left leg since birth, presented with a 7-month-history of progressive myelopathy of the lower extremities and dysfunction of the bladder and bowel. Myelography demonstrated dilated intradural vessels. Angiography demonstrated two distinct single hole perimedullary arteriovenous fistulae near the conus at two different metameres. They were supplied by the left posterior spinal artery. The patient was treated by transarterial embolisation using polyvinyl alcohol particles, which resulted in venous side occlusion of the fistulae. After the treatment, the patient developed transient worsening of the spasticity of the lower extremities, and was treated by heparinization. After heparinization, the patient partially recovered from the pre-embolisation status of his myelopathy. The follow-up angiogram one year after the embolisation demonstrated persistent obliteration of both fistulae. At long-term follow-up, the patient can ambulate without assistance and work as a farmer.

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