scholarly journals Bilateral Distal Humeral Fracture in a patient with Osteogenesis imperfecta During the Covid Pandemic– A Rare Case Report

2020 ◽  
pp. 187
Author(s):  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Humeral Fracture ◽  
Distal Humerus ◽  
Low Bone Mass ◽  
Multiple Fractures ◽  
Bone Deformity ◽  
Rare Case Report ◽  
History Of ◽  
Brittle Bones

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder which is characterised by bone deformity, low bone mass, connective tissue manifestations and brittle bones with history of multiple fractures. Although recurrent fractures are known in patient with OI, the occurrence of bilateral simultaneous fracture of humerus is quite rare. Presenting complaint and investigations: The patient had a fall in the outdoors during a storm during the height of covid pandemic and sustained injury to both arms. Radiographs revealed comminuted fracture of left distal humerus and transverse extraarticular supracondylar fracture of right humerus. Diagnoses, therapeutics interventions, and outcomes: Although, conservative measures were advised as per the guidelines for orthopaedic surgery during the covid pandemic for most of the fractures, the decision to operate was made considering the morbid obesity and hampered mobility due to bilateral above elbow plaster.The patient underwent staged open reduction and internal fixation of both distal humerus with anatomical locking plates in a span of 2 weeks. She recovered uneventfully with a good functional range of movements and resumed her routine activities. Conclusion: The treatment for complex and unusual fractures should be individualised and should take into consideration of patient’s general condition and safety.

scholarly journals Massive Pulmonary Emboli in Klinefelter Syndrome: A Rare Case Report

2021 ◽  
Vol 11 (4) ◽  
Author(s):  
Fatemeh Javaherforooshzadeh ◽  
Yusef Torfi
Keyword(s):  
Klinefelter Syndrome ◽  
Genetic Disorder ◽  
Anticoagulation Therapy ◽  
Acute Chest Pain ◽  
Case Presentation ◽  
Oral Anticoagulation Therapy ◽  
Rare Case Report ◽  
Chief Complaints ◽  
History Of ◽  
Surgery Center

Introduction: Klinefelter syndrome (KS) is a genetic disorder that affects men. An augmented incidence of the thromboembolic event described in patients with KS. Case Presentation: A 34-year-old male identified with a definitive diagnosis of KS was hospitalized to our cardiac surgery center through the emergency with chief complaints of acute chest pain and dyspnea. Saddle pulmonary thromboembolism was established from chest Computed Tomography Angiography (CTA). The patient's symptoms resolved after embolectomy via surgery. Conclusions: There is a tendency for hypercoagulability in KS. This tendency is because of hormonal discrepancy and hereditary thrombophilic factors. So, patients with KS and past medical history of venous thromboembolism necessitate constant oral anticoagulation therapy.

Osteogenesis Imperfecta

2018 ◽  
Author(s):  
Aimee G. Kakascik
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Bone Fragility ◽  
Type I ◽  
Multiple Fractures ◽  
Systemic Involvement ◽  
Collagen Formation ◽  
Different Types ◽  
Clinical Triad ◽  
Blue Sclerae

Osteogenesis imperfecta (OI) is a genetic disorder that affects collagen formation and ultimately leads to increased bone fragility. The fragile nature of the bones leads to fractures, even from seemingly normal patient care. Affected patients are at the highest risk for unintentional fractures during perioperative care. There are several different types of OI. Type I is the most common. With the different types come varying degrees of severity. Types II and III are the more severe forms. The classic clinical triad seen in OI is blue sclerae, multiple fractures, and conductive hearing loss. The patient may have other systemic involvement beyond the fragile musculoskeletal system. It is imperative that the anesthesiologist be well-versed in the natural history and perioperative management of patients with OI in order to optimize care and minimize complications.

scholarly journals Translational Research in Osteogenesis Imperfecta and Cell Therapy

Proceedings ◽  
2021 ◽  
Vol 72 (1) ◽  
pp. 3
Author(s):  
Vrisha Madhuri ◽  
Sowmya Ramesh ◽  
Renita Raymond ◽  
Agnes Selina ◽  
Lakshmi Loganathan
Keyword(s):  
Cell Therapy ◽  
Osteogenesis Imperfecta ◽  
Translational Research ◽  
Christian Medical College ◽  
Multiple Fractures ◽  
Medical College ◽  
Regulatory Processes ◽  
The Individual ◽  
Pediatric Orthopedic ◽  
Brittle Bones

On 6 and 7 of February 2019, Center for Stem cell Research (CSCR) and Pediatric orthopedic Unit at Christian Medical College (CMC), Vellore, conducted a meet on Translational Research in Osteogenesis Imperfecta and Cell Therapy. Osteogenesis Imperfecta (OI) is a disease in which the individual has weak brittle bones which fracture easily, resulting in multiple fractures throughout their childhood. Children become deformed and often do not walk or grow normally. The meeting was conducted to highlight the newer advances and therapies for osteogenesis imperfecta and bring regulatory processes and challenges that need to be addressed.

scholarly journals Osteogenesis Imperfecta/Lobstein Syndrome associated with Dentinogenesis Imperfecta

2013 ◽  
Vol 14 (1) ◽  
pp. 140-142
Author(s):  
Naresh Lingaraju ◽  
PJ Nagarathna ◽  
R Vijayalakshmi ◽  
P Sheshadri
Keyword(s):  
Bone Mass ◽  
Osteogenesis Imperfecta ◽  
Primary Teeth ◽  
Bone Fragility ◽  
Osteogenesis Imperfecta Type ◽  
Dentinogenesis Imperfecta ◽  
Low Bone Mass ◽  
Bone Deformity ◽  
Related Disorder ◽  
Type Iv

ABSTRACT Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone deformity, scoliosis, barrel shaped rib cage, and short stature. The clinical, radiographic ad histologic features are reviewed along with management aspects. How to cite this article Lingaraju N, Nagarathna PJ, Vijayalakshmi R, Sheshadri P. Osteogenesis Imperfecta/ Lobstein Syndrome associated with Dentinogenesis Imperfecta. J Contemp Dent Pract 2013;14(1):140-142.

A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I

Bone ◽  
2019 ◽  
Vol 127 ◽  
pp. 646-655 ◽  
Author(s):  
Yi Liu ◽  
Jianhai Wang ◽  
Shuo Liu ◽  
Mingjie Kuang ◽  
Yaqing Jing ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Murine Model ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Transgenic Murine Model ◽  
Brittle Bones ◽  
Osteogenesis Imperfecta Type I

845 Progressive external ophthalmoplegia in sleep apnea presenting as floppy eyelid syndrome

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A329-A329
Author(s):  
Pratibha Anne ◽  
Rupa Koothirezhi ◽  
Ugorji Okorie ◽  
Minh Tam Ho ◽  
Brittany Monceaux ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Surgical Treatment ◽  
Sleep Apnea ◽  
Genetic Disorder ◽  
Deltoid Muscle ◽  
Progressive External Ophthalmoplegia ◽  
Ataxic Gait ◽  
Pressure Setting ◽  
Obstructive Sleep ◽  
History Of

Abstract Introduction Floppy eye lid syndrome (FES) is known to be associated with Obstructive sleep apnea (OSA) and chronic progressive external ophthalmoplegia (CPEO) is a rare genetic disorder with mitochondrial myopathy that may present with isolated eye lid ptosis in the initial stages. In a patient with loud snoring and obesity, treating obstructive sleep apnea may improve Floppy eyelid syndrome. Report of case(s) 52-year-old African – American male with past medical history of Hypertension, obesity, glaucoma, CPEO status bilateral blepharoplasty with failed surgical treatment. Patient was referred to Sleep medicine team to rule out Obstructive Sleep Apnea aa a cause of possible underlying FES and residual ptosis. On exam, patient was noted to have bilateral brow and eyelid ptosis and mild ataxic gait. MRI brain with and without contrast was unremarkable. Deltoid muscle biopsy was suggestive of possible congenital myopathy and mild denervation atrophy. Polysomnogram showed severe OSA with AHI of 74.1 per hour and patient was initiated on Auto CPAP at a pressure setting of 7–20 cm H2O. CPAP treatment improved snoring, OSA and subjective symptoms of excessive day time sleepiness but did not improve the residual ptosis. Conclusion Treatment of severe OSA in a patient previously diagnosed with CPEO and failed surgical treatment with bilateral blepharoplasty, did not alter the course of residual ptosis/ floppy eyelids even though his other sleep apnea symptoms have improved. Support (if any) 1. McNab AA. Floppy eyelid syndrome and obstructive sleep apnea. Ophthalmic Plast Reconstr Surg. 1997 Jun;13(2):98–114. doi: 10.1097/00002341-199706000-00005. PMID: 9185193.

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

scholarly journals A215 MDR3 DEFICIENCY MIMICKING WILSON DISEASE

2021 ◽  
Vol 4 (Supplement_1) ◽  
pp. 247-248
Author(s):  
M Flanagan ◽  
R Little ◽  
I Siddiqui ◽  
N Jones ◽  
V Ng
Keyword(s):  
Bile Acids ◽  
Wilson Disease ◽  
Genetic Disorder ◽  
Multi Drug Resistance ◽  
Total Serum ◽  
Cholestatic Liver Disease ◽  
Class Iii ◽  
Her Family ◽  
Abcb4 Gene ◽  
History Of

Abstract Background The chronic phenotype of ALF includes a broad differential diagnosis. Class III multi-drug resistance P-glycoprotein 3 (MDR3) deficiency, also referred to as progressive familial intrahepatic cholestasis type 3, is an autosomal recessive genetic disorder. It is caused by a defect on the ABCB4 gene located on chromosome 7, which encodes MDR3. MDR3 is responsible for transporting phosphatidylcholine across the canalicular membrane, thereby allowing it to be incorporated into bile micelles. MDR3 deficiency results in increased levels of free bile acids and detergent bile. Progressive cholangiopathy ensues from this detergent bile and indirectly leads to cholestasis and liver failure in severe cases. Significantly increased urinary and hepatic copper (Cu), which are hallmarks of Wilson disease, have also been reported in patients with acute hepatitis and cholestasis including patients with MDR3 deficiency Aims We report a case of a girl who presented with a chronic phenotype of PALF, who had multiple features of Wilson disease and so was treated as such until genetic analysis confirmed MDR3 deficiency Methods Results A 6 year old girl presented to the ED with a 1mth history of epistaxis and a 1wk history of abdominal pain and distension, facial edema, pallor and fever. Her family history was significant for parental consanguinity and maternal itch during pregnancy. On examination she had clubbing, scleral icterus and a distended abdomen with hepatosplenomegaly. Her bloodwork showed bicytopenia (HGB 53 & Plts 63) along with liver dysfunction (INR 2.9, albumin 25, conjugated bilirubin 9) and raised liver enzymes (transaminases & GGT >10xULN). Her total serum bile acids were raised at 134. An US showed hepatosplenomegaly with multiple hyperechoic nodules and perisplenic varices. She was extensively worked up for malignancy, autoimmune and metabolic disease. Serum ceruloplasmin was reduced, ophthalmology examination showed no KF rings and her 24hr urinary Cu was 10xULN. Liver Cu quantification was markedly raised at 40xULN. Liver biopsy showed cirrhosis with fibrosis related minimal non-specific portal and septal inflammation. Additionally, complete loss of canalicular staining on immunohistochemistry for MDR3 protein was noted, suggestive of MDR3 deficiency. Based on the Cu levels, a provisional diagnosis of Wilson disease was made and Cu chelation therapy was commenced pending genetic testing. A cholestatic gene panel subsequently showed homozygous pathogenic variant for the ABCB4 gene. Trientine was stopped and she was commenced on ursodeoxycholic acid. Though biochemically she remains largely unchanged, she is clinically stable whilst awaiting a liver transplant Conclusions This case highlights the diagnostic difficulties associated with Cu test result interpretation in patients with chronic cholestatic liver disease and urges a thorough consideration of alternative diagnoses of PALF Funding Agencies None

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

Intracranial meningioma in a patient with osteogenesis imperfecta

Open Medicine ◽  
2008 ◽  
Vol 3 (4) ◽  
pp. 517-520
Author(s):  
Parmenion Tsitsopoulos ◽  
Ioannis Anagnostopoulos ◽  
Vasileios Tsitouras ◽  
Ioannis Venizelos ◽  
Philippos Tsitsopoulos
Keyword(s):  
Osteogenesis Imperfecta ◽  
Muscle Power ◽  
Brain Mri ◽  
Intracranial Meningioma ◽  
Type I ◽  
Mri Scans ◽  
Heritable Disorder ◽  
History Of ◽  
One Year ◽  
Gait Disturbances

AbstractOsteogenesis imperfecta (OI) is a heritable disorder characterized mainly by connective tissue manifestations. In dinstinct cases, several neurological features have also been described. A 46-year-old male with a known family history of OI type I presented with progressive gait disturbances and diminished muscle strength. Brain MRI scans revealed an infiltrative intracranial mass occupying both frontoparietal lobes. The patient underwent surgical intervention. The histological diagnosis was an atypical (Grade II) meningioma. The bony parts demonstrated a mixture of osseous defects due to OI and infiltration by the tumor. At one-year follow up the patient′s muscle power partially returned while repeat MRI scans were negative for tumor recurrence.

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