Hypoxemia without Respiratory Distress: Hereditary Hemorrhagic Telangiectasia in a Child

2020 ◽  
Author(s):  
Michael D. McCann ◽  
Claire Newlon ◽  
Conrad Krawiec
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Genetic Disorder ◽  
Significant Morbidity ◽  
Younger Patients ◽  
Life Threatening ◽  
Symptoms And Signs ◽  
Over Time

AbstractHereditary hemorrhagic telangiectasia (HHT) is an underrecognized genetic disorder of vascular development in pediatric patients. Its presentation can range from mild cutaneous findings to life-threatening hemorrhage from arteriovenous malformations. Clinical diagnosis can be challenging in the pediatric population as disease manifestations evolve over time and may be difficult to identify in younger patients. This case highlights how nonspecific symptoms and signs in the preanesthesia period can be misleading, potentially placing a patient with unrecognized HHT at risk for significant morbidity and mortality.

scholarly journals Paranasal Mass in a Healthy Male Toddler

2021 ◽  
pp. 014556132110079
Author(s):  
Melonie Anne Phillips ◽  
Meredith Lind ◽  
Gerd McGwire ◽  
Diana Rodriguez ◽  
Suzanna Logan
Keyword(s):  
Differential Diagnosis ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Age Group ◽  
Significant Morbidity ◽  
Healthy Male ◽  
Neck Tumors ◽  
Complete Surgical Resection ◽  
Maxilla And Mandible ◽  
Benign Mass

Head and neck tumors are rare in pediatric patients but should be kept in the differential when a patient presents with a new swelling or mass. One of these tumors is a myxoma, which is an insidiously growing, benign mass originating from the mesenchyme. They most commonly arise in the myocardium but can also develop in facial structures, particularly in the maxilla and mandible. When arising in facial structures, ocular, respiratory, and digestive systems can be affected based on local invasion. Complete surgical resection is curative but can lead to significant morbidity as well. Here, we present a case of a 15-month-old toddler presenting with a paranasal mass, which was ultimately diagnosed as a maxillary myxoma. This tumor is very rare in the pediatric population, especially in the toddler age-group, reminding clinicians to broaden the differential diagnosis when a patient’s course is atypical.

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.

scholarly journals Intubation Related Laryngeal Injuries in Pediatric Population

2021 ◽  
Vol 9 ◽  
Author(s):  
Karma Lambercy ◽  
Laurence Pincet ◽  
Kishore Sandu
Keyword(s):  
Pediatric Patients ◽  
Pediatric Population ◽  
Laryngeal Edema ◽  
Anatomical Site ◽  
Vocal Cords ◽  
Small Children ◽  
Airway Stenosis ◽  
Wide Range ◽  
Life Threatening ◽  
Retention Cysts

Introduction: Laryngeal intubation related lesions (LIRL) in pediatric patients cause extreme morbidity in both elective and emergency settings. It has a wide range of presentations from minor laryngeal edema to a life-threatening airway obstruction. We report here our units' experience with LIRL in neonates, infants, and small children.Material and Methods: This is a retrospective monocentric cohort study between January 2013 and April 2019.Results: Thirty-nine patients with intubation lesions were included in the study. We looked at the lesions type, characteristics, management, and outcome. Half the patients were premature and having comorbidities. Main LIRL were subglottic stenosis (31%), ulcers (26%), granulations (18%), retention cysts (18%), posterior glottic stenosis (13%), and vocal cords edema (5%). Unfavorable lesions causing airway stenosis were associated with an intubation duration of over 1 week and were an important factor in causing airway stenosis (p < 0.05). The endoscopic treatment performed for these lesions was lesion and anatomical site-specific. Tracheostomy was needed in five patients, and was avoided in another two. Seven patients (18%) received open surgery prior to their decannulation.Conclusions: LIRL management is challenging and stressful in the pediatric population and optimal treatment could avoid extreme morbidity in them. Intubation duration and associated comorbidities are important factors in deciding the severity of these lesions. Protocols to prevent the formation of these lesions are critical.

scholarly journals Primary Intraventricular Hemorrhage in Pediatric Patients: Causes, Characteristics, and Outcomes

2019 ◽  
Author(s):  
Rui Guo ◽  
Chaofeng Fan ◽  
Ruiqi Chen ◽  
Zhiyuan Yu ◽  
Rui Tian ◽  
...  
Keyword(s):  
Intraventricular Hemorrhage ◽  
Arteriovenous Malformations ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Unfavorable Outcome ◽  
Rare Type ◽  
Long Time ◽  
The Mean ◽  
Short Time

Abstract Background: Primary intraventricular hemorrhage is a rare type of stroke and little is known its causes, characteristics and outcomes in children. Methods: We retrospectively analyzed the clinical characteristics of patients aged one month to 21 years during seven consecutive years with primary intraventricular hemorrhage. Primary intraventricular hemorrhage was defined as bleeding confined to the ventricular system without parenchymal or subarachnoid hemorrhage involved. Results: Of the included eighteen patients, 55.6% were female, and the mean age was 13.8 ± 6.0 years. The most common symptoms on presentation were headache (77.8%) and vomiting (33.3%). Fifteen patients (83.3%) were diagnosed with known etiologies, including arteriovenous malformations (66.7%), Moyamoya disease (11.1%), and aneurysms (5.6%). Idiopathic PIVH was diagnosed in only 3 patients (16.7%). Fifteen patients (83.3%) underwent surgical intervention, and 3 patients (16.7%) received conservative treatment. Four patients (28.6%) had an unfavorable outcome at discharge and unfavorable was observed in 3 patients (16.7%) at the 3-month follow-up. Higher Graeb score was associated with an unfavorable outcome both in short-time and long-time follow-up. Conclusions: Most primary intraventricular hemorrhage patients were diagnosed with arteriovenous malformations in the pediatric population. Specific surgical treatment of underlying etiologies should be required to increase clinical improvement. The children with higher Graeb score at admission tended to have poor early and late outcome. Keywords: Primary intraventricular hemorrhage; pediatric; surgery; vascular disorders.

scholarly journals Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

2020 ◽  
Vol 9 (11) ◽  
pp. 3571
Author(s):  
Carmelo Bernabeu ◽  
Pinar Bayrak-Toydemir ◽  
Jamie McDonald ◽  
Michelle Letarte
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Somatic Mutations ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Vascular Lesions ◽  
Mechanical Trauma ◽  
Internal Organs ◽  
Second Hit ◽  
Functional Mechanisms

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that presents with telangiectases in skin and mucosae, and arteriovenous malformations (AVMs) in internal organs such as lungs, liver, and brain. Mutations in ENG (endoglin), ACVRL1 (ALK1), and MADH4 (Smad4) genes account for over 95% of HHT. Localized telangiectases and AVMs are present in different organs, with frequencies which differ among affected individuals. By itself, HHT gene heterozygosity does not account for the focal nature and varying presentation of the vascular lesions leading to the hypothesis of a “second-hit” that triggers the lesions. Accumulating research has identified a variety of triggers that may synergize with HHT gene heterozygosity to generate the vascular lesions. Among the postulated second-hits are: mechanical trauma, light, inflammation, vascular injury, angiogenic stimuli, shear stress, modifier genes, and somatic mutations in the wildtype HHT gene allele. The aim of this review is to summarize these triggers, as well as the functional mechanisms involved.

scholarly journals Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Iyar Mazar ◽  
Jonathan Stokes ◽  
Sarah Ollis ◽  
Emily Love ◽  
Ashlee Espensen ◽  
...  
Keyword(s):  
Life Experience ◽  
Genetic Disorder ◽  
Qualitative Interviews ◽  
Leisure Activities ◽  
Barth Syndrome ◽  
Future Research ◽  
Adult Males ◽  
Role Functioning ◽  
Life Threatening ◽  
Over Time

Abstract Background Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles, and shorter stature in youth. A greater number of individuals with BTHS are now surviving into adulthood due to advancements in diagnosis and disease management. Given these improvements in life expectancy, understanding the disease experience over time has become increasingly important to individuals with the condition, treatment developers, and regulatory agencies. A study was conducted to explore the experience of BTHS from the perspective of adult males at least 35 years of age with the condition via in-depth qualitative interviews. Results Findings showed that adults with BTHS experienced a variety of signs/symptoms with variable onset and severity throughout their lives, the most frequently reported being the symptoms of tiredness, muscle weakness, and a fast and/or irregular heart rate, and the sign of short stature in youth. These signs/symptoms negatively impacted individuals’ emotional, physical, social, and role functioning. Tiredness and weakness impacted some individuals’ physical functioning from an early age and into adulthood. These symptoms generally worsened over time, increasingly interfering with individuals’ ability to fully participate in paid and unpaid labor and to partake in family and leisure activities. Conclusions This research complements recent studies characterizing the potentially degenerative and progressive nature of BTHS and can encourage future research into the natural history and progression of BTHS in untreated individuals. Participants’ interview responses revealed a range of symptoms and the potential for multiple impacts on individuals’ physical, social, emotional, and role functioning as a result of BTHS symptoms, yet also revealed variability in severity of experience as well as the possibility of resilience and adaptation to the condition.

scholarly journals Recent Advances in Basic Research for Brain Arteriovenous Malformation

2019 ◽  
Vol 20 (21) ◽  
pp. 5324 ◽  
Author(s):  
Barbosa Do Prado ◽  
Han ◽  
Oh ◽  
Su
Keyword(s):  
Arteriovenous Malformations ◽  
Somatic Mutations ◽  
Genetic Disorder ◽  
Basic Research ◽  
Science Research ◽  
Brain Arteriovenous Malformation ◽  
Therapeutic Implications ◽  
Familial Cases ◽  
Life Threatening ◽  
Brain Avms

Arteriovenous malformations (AVMs) are abnormal connections of vessels that shunt blood directly from arteries into veins. Rupture of brain AVMs (bAVMs) can cause life-threatening intracranial bleeding. Even though the majority of bAVM cases are sporadic without a family history, some cases are familial. Most of the familial cases of bAVMs are associated with a genetic disorder called hereditary hemorrhagic telangiectasia (HHT). The mechanism of bAVM formation is not fully understood. The most important advances in bAVM basic science research is the identification of somatic mutations of genes in RAS-MAPK pathways. However, the mechanisms by which mutations of these genes lead to AVM formation are largely unknown. In this review, we summarized the latest advance in bAVM studies and discussed some pathways that play important roles in bAVM pathogenesis. We also discussed the therapeutic implications of these pathways.

scholarly journals The Rate of Hospitalizations and Intensive Care Admissions in Boston Children Hospital

2020 ◽  
pp. 20-23
Author(s):  
Rajeev Nagpal ◽  
Stanislav Seltser ◽  
Nitender Goyal
Keyword(s):  
Intensive Care ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Age Groups ◽  
Robust Analysis ◽  
Course Of Illness ◽  
Life Threatening Illness ◽  
Life Threatening ◽  
Low Incidence ◽  
Icu Treatment

Much remains unknown about the overall impact of COVID-19 on the pediatric population because of the relative low incidence of symptomatic pediatric cases compared to other age groups. Recent anecdotal reports of rare and unique illnesses related to COVID-19 in this population calls for a more robust analysis. A time series analysis from open source Center for Disease Control (CDC) data on Boston Children’s Hospital over a three-week period from April 21, 2020 thru May 9, 2020 was completed. An overall downward trend of both COVID-19 hospitalizations and patients requiring Intensive Care Unit (ICU) care was found. Moreover, the ratio of patients hospitalized requiring ICU treatment decreased. These findings suggest that pediatric patients were seen earlier in the course of illness as reports emerged linking COVID-19 to symptomatic and life-threatening illness in children. This data is intended to raise this general issue to the broad readership of The Asian Journal of Pediatric Research.

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