scholarly journals Lactulose to the Rescue: A Case of Toxic Hepatic Encephalopathy Caused by Portosystemic Shunting and Epistaxis in a Patient with Hereditary Hemorrhagic Telangiectasia

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Ruchit N. Shah ◽  
Michael Makar ◽  
Nasir Akhtar ◽  
Erin Forster
Keyword(s):  
Hepatic Encephalopathy ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Rare Complication ◽  
Multiple Organ ◽  
Autosomal Dominant Disorder ◽  
Life Saving ◽  
Organ Systems ◽  
Portosystemic Shunting

Hereditary hemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant disorder characterized by telangiectasias and arteriovenous malformations. Multiple organ systems are involved including the skin, lungs, gastrointestinal tract, and brain. Hepatic encephalopathy is an extremely rare complication of HHT and early diagnosis and treatment can be life-saving. We present a rare case of hepatic encephalopathy caused by HHT-induced portosystemic shunting treated with lactulose.

scholarly journals Imaging to intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Stephanie Sobrepera ◽  
Eric Monroe ◽  
Joseph J. Gemmete ◽  
Danial Hallam ◽  
Jason W. Pinchot ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Massive Hemorrhage ◽  
Endovascular Management ◽  
Autosomal Dominant Disorder ◽  
Screening Guidelines ◽  
Organ Systems ◽  
Arteries And Veins

AbstractHereditary hemorrhagic telangiectasia (HHT) is a disorder that affects 1 in 5000–10,000 people worldwide and can result in devastating complications such as cerebral abscess, stroke, massive hemorrhage, and even death. HHT is an autosomal dominant disorder that leads to the formation of abnormal communication between the arteries and veins with a resultant spectrum of vascular anomalies. The disorder affects many organ systems and thus requires a dedicated multidisciplinary approach. Interventional radiologists are vital members of this team providing expertise not only in disease management, but in complex embolotherapy, helping to maintain the health of these patients. This article reviews clinical manifestations, screening guidelines, diagnostic criteria, and endovascular management of HHT.

PLEXIFORM NEUROFIBROMA OF THE BRACHIAL PLEXUS – A RARE CASE REPORT

2021 ◽  
pp. 13-15
Author(s):  
Surya Rao Rao Venkata Mahipathy ◽  
Alagar Raja Durairaj ◽  
Narayanamurthy Sundaramurthy ◽  
Anand Prasath Jayachandiran ◽  
Suresh Rajendran
Keyword(s):  
Brachial Plexus ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Plexiform Neurofibroma ◽  
Autosomal Dominant Disorder ◽  
Surgical Debulking ◽  
Rare Case Report ◽  
Benign Tumours ◽  
Common Benign Tumour

Neurobroma is a common benign tumour occurring as part of an autosomal dominant disorder, neurobromatosis type 1, leading to the formation of benign tumours or neurobromas of the peripheral nervous system. Large neurobromas of the brachial plexus are rare and present a difcult challenge for surgeon due to the anatomical complexity of the brachial plexus. Dermal neurobromas usually present with swelling and occasional pain, but neurobromas associated with the brachial plexus present with pain and neurological symptoms. These plexiform neurobromas of the brachial plexus are known to undergo malignant transformation. Here, we present a case of a large plexiform neurobroma affecting the left brachial plexus and extending till the elbow, conrmed with MRI and surgical debulking was done.

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

2019 ◽  
Vol 20 (1) ◽  
pp. 217-240 ◽  
Author(s):  
Catherine L. Salussolia ◽  
Katarzyna Klonowska ◽  
David J. Kwiatkowski ◽  
Mustafa Sahin
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Phenotypic Variability ◽  
Mtor Inhibitors ◽  
Multiple Organ ◽  
Great Promise ◽  
Optimal Timing ◽  
Autosomal Dominant Disorder ◽  
Organ Systems ◽  
Neuropsychiatric Manifestations

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the hyperactivation of the mechanistic target of rapamycin (mTOR) pathway. Dysregulated mTOR signaling results in increased cell growth and proliferation. Clinically, TSC patients exhibit great phenotypic variability, but the neurologic and neuropsychiatric manifestations of the disease have the greatest morbidity and mortality. TSC-associated epilepsy occurs in nearly all patients and is often difficult to treat because it is refractory to multiple antiseizure medications. The advent of mTOR inhibitors offers great promise in the treatment of TSC-associated epilepsy and other neurodevelopmental manifestations of the disease; however, the optimal timing of therapeutic intervention is not yet fully understood.

scholarly journals Pharmacological Restoration of Visual Function in a Zebrafish Model of von-Hippel Lindau Disease

2018 ◽  
Author(s):  
Rebecca Ward ◽  
Kayleigh Slater ◽  
Zaheer Ali ◽  
Alison L Reynolds ◽  
Lasse D Jensen ◽  
...  
Keyword(s):  
Visual Function ◽  
Vision Loss ◽  
Kinase Inhibitor ◽  
Multiple Organ ◽  
Loss Of Function ◽  
Autosomal Dominant Disorder ◽  
Zebrafish Model ◽  
Von Hippel Lindau ◽  
Organ Systems ◽  
Vhl Disease

AbstractVon Hippel-Lindau (VHL) syndrome is rare, autosomal dominant disorder, characterized by hypervascularised tumour formation in multiple organ systems. Vision loss associated with retinal capillary hemangioblastomas remains one of the earliest complications of VHL disease. The mortality ofVhl-/-micein uterorestricted modelling of VHL disease in this mammalian model. Zebrafish harbouring a recessive germline mutation in thevhlgene represent a viable, alterative vertebrate model to investigate associated ocularloss-of-functionphenotypes. Previous studies reported neovascularization of the brain, eye and trunk together with odema in thevhl-/-zebrafish eye. In this study, we demonstratevhl-/-zebrafish almost entirely lack visual function. Furthermore, hyaloid vasculature networks in thevhl-/-eye are improperly formed and this phenotype is concomitant with development of an ectopic intraretinal vasculature. Sunitinib, a multi tyrosine kinase inhibitor, market authorised for cancer, reversed the ocular behavioural and morphological phenotypes observed invhl-/-zebrafish. We conclude that the zebrafishvhlgene contributes to the endogenous molecular barrier that prevents development of intraretinal vasculature and that sunitinib can improve visual function and hyaloid vessel patterning while reducing abnormally formed ectopic intraretinal and choroidal vessels invhl-/-zebrafish.

HOLT-ORAM SYNDROME: RARE CASE SERIES

2021 ◽  
pp. 46-47
Author(s):  
Mahendar Reddy Muskula ◽  
Roshin P ◽  
Ajay J ◽  
Sanjeev Chetty
Keyword(s):  
Congenital Heart Defects ◽  
Upper Limb ◽  
Rare Case ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Case Series ◽  
Rare Disorder ◽  
Autosomal Dominant Disorder ◽  
Limb Malformations

The upper limb malformations in association with congenital heart defects occurring as autosomal dominant disorder are seen in Holt-Oram syndrome. It is a very rare disorder which can be detected with early prenatal ultrasound checkups. Here we are reporting two cases of holt-oram syndrome

Proteus syndrome with huge tonsillar mass causing dysphagia: a rare case

2006 ◽  
Vol 120 (5) ◽  
pp. 408-410 ◽  
Author(s):  
J K Sahni ◽  
S Kumar ◽  
V Wadhwa ◽  
G Kathuria
Keyword(s):  
Connective Tissue ◽  
Rare Case ◽  
Vascular Malformations ◽  
Multiple Organ ◽  
Proteus Syndrome ◽  
Orthopaedic Surgeons ◽  
Organ Systems

Proteus syndrome is a rare and highly variable hamartomatous syndrome that can affect multiple organ systems. It is characterized by hyperplasia of connective tissue, vascular malformations, epidermal naevi and hyperostosis. Most of the cases present to plastic and orthopaedic surgeons. Otolaryngologic presentations are minimal. We report such a rare case, which presented with a huge unilateral tonsillar mass causing dysphagia.

scholarly journals Radiofrequency for Treatment of Refractory Epistaxis in Hereditary Hemorrhagic Telangiectasia

2018 ◽  
Vol 31 (1) ◽  
pp. 63
Author(s):  
Mariana Donato ◽  
João Pimentel ◽  
Rui Cabral ◽  
Pedro Escada
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Standard Procedure ◽  
Recurrent Bleeding ◽  
Bleeding Tendency ◽  
Autosomal Dominant Disorder ◽  
Acute Bleeding ◽  
Significant Interference

Hereditary hemorrhagic telangiectasia is a rare multi-systemic autosomal dominant disorder characterized by dysplasia of the vascular connective tissue and recurrent bleeding tendency. Epistaxis is the most common and earliest symptom. It is usually mild to moderate, however, in some patients it can be severe with significant interference in quality of life. We report a case of a patient with hereditary hemorrhagic telangiectasia, in which an episode of refractory epistaxis was treated with radiofrequency and fibrin sealant. Control of acute bleeding and elimination of telangiectasia was possible with this technique. After six months follow-up, there was no epistaxis recurrence. Various treatments for epistaxis in this disease have been described in the literature, but there is no consensus about the gold-standard procedure. Radiofrequency ablation of telangiectasia is a recent technique that has shown to be safe, effective and well tolerated, even in patients who underwent other previous treatments.

MARFAN SYNDROME AND PREGNANCY: CLINICAL IMPLICATIONS AND MANAGEMENT

2010 ◽  
Vol 21 (3) ◽  
pp. 225-241
Author(s):  
ARIADNA C GRIGORIU ◽  
JACK COLMAN ◽  
CANDICE K SILVERSIDES ◽  
RACHEL WALD ◽  
SAMUEL C SIU ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
De Novo ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Clinical Implications ◽  
Organ Systems

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that affects multiple organ systems, primarily the cardiovascular, ocular and skeletal. It is the most common inherited condition affecting the heart and the aorta, occurring in 1:5000–1:9800 people. There is no ethnic or gender predisposition; 20 to 35% of cases arise fromde novomutations.

scholarly journals Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

2021 ◽  
Vol 2 (3) ◽  
pp. 01-02
Author(s):  
Alvaro E. Galvis ◽  
Beatrice Batoczki ◽  
Iris S. Pecson ◽  
Evan Vidal ◽  
Craig T. Nakamura
Keyword(s):  
Genetic Testing ◽  
Pediatric Patient ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
History Of ◽  
Vascular Dysplasia

Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.

scholarly journals Resveratrol As a Novel Treatment for Recurrent Epistaxis in SMAD4+ Hereditary Hemorrhagic Telangiectasia

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 1048-1048
Author(s):  
Shahbegh Gill ◽  
Shadi Swaidani ◽  
Joseph Parambil ◽  
Keith R. McCrae
Keyword(s):  
Quality Of Life ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Deficiency Anemia ◽  
Severe Bleeding ◽  
Autosomal Dominant Disorder ◽  
Severity Scores ◽  
Recurrent Epistaxis ◽  
History Of

Abstract Introduction Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by the development of arteriovenous malformations or telangiectasias that may affect any organ system, but are most prevalent in the nose and gastrointestinal tract. Nasal telangiectasia account for epistaxis, the most frequent manifestation of HHT, which may be frequent, debilitating and lead to decreased quality of life. Epistaxis is quantified by the Epistaxis Severity Scores (ESS), which ranges from 1-10 with higher scores associated with more severe bleeding. The diagnosis of HHT is based on clinical criteria and requires three or more of the following features: epistaxis, mucocutaneous telangiectasis, visceral AVMs, and/or a family history of HHT. HHT is associated with several mutations that may involve ENG, ACVRL1, or SMAD4; the latter occurs in only ~2% of HHT patients, which is also associated with the Juvenile Polyposis Syndrome (JPS), another autosomal dominant disorder associated with an increased risk for colorectal, stomach, small intestine, and pancreatic cancers. Methods Case report with serial ESS scores, hemoglobin and hematocrit monitoring. Results A 25-year-old male was diagnosed with JPS/HHT and a c.1081C>T mutation in SMAD4 leading to an R361C missense mutation was diagnosed in 2013. The patient had a longstanding history of frequent epistaxis leading to severe iron deficiency anemia and requiring at least two 750 mg iron infusions annually (total of 14), and did not improve with oral iron supplements. In December 2020, the patient initiated a 1 g daily dose of resveratrol for general anti-aging and health benefits. His epistaxis improved immediately, and his ESS decreased from 6 (consistent with severe bleeding) to 1 (no bleeding) over a two week period. The frequency, severity and duration of epistaxis all improved dramatically (Figure). No additional iron therapy has been required since initiation of resveratrol. Recent serum iron and ferritin values (6/2021) were both within normal limits. Of interest, in parallel with the resolution of epistaxis, the patient also had a dramatic reduction in colonic polyposis after starting resveratrol. Conclusions There are no approved therapies for the treatment of HHT, and patients with this disorder may suffer from a markedly reduced quality of life due to unpredictable epistaxis and other manifestations. While a responses to bevacizumab have been reported in 60-70% of patients, treatment is expensive and may be associated with thromboembolic events, and patients may become refractory over time. Invasive approaches such as sclerotherapy may be initially, but only temporarily effective. Thus, there is an urgent need for better HHT therapies. Figure 1 Figure 1. Disclosures McCrae: Sanofi, Novartis, Alexion, and Johnson & Johnson: Consultancy, Honoraria; Dova, Novartis, Rigel, and Sanofi Genzyme: Consultancy.

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