Short report: craniosynostosis, a late complication of nutritional rickets

Author(s):  
Lydia Y. Forestier-Zhang ◽  
Paul Arundel ◽  
Robyn Gilbey-Cross ◽  
Mohammed Zulf Mughal ◽  
Amaka C. Offiah ◽  
...  

Abstract Objectives Nutritional rickets may be a preventable cause of craniosynostosis. This potential association is under-recognised. A late diagnosis of craniosynostosis may result in reduced brain growth, raised intracranial pressure and long-term psychosocial problems. Case presentation We present four cases of craniosynostosis associated with nutritional rickets. Those who had delayed presentation underwent emergency craniotomy. Conclusions Treatment of nutritional rickets and early identification of craniosynostosis can reduce morbidity in these children.

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Goar Egoryan ◽  
Elise Hyser ◽  
Ammar H. Mushtaq ◽  
Maria Adriana Yanez-Bello ◽  
Daniela Patricia Trelles-Garcia ◽  
...  

Abstract Background Cavities are frequent manifestations of a wide variety of pathological processes involving the lung. There has been a growing body of evidence of coronavirus disease 2019 leading to a cavitary pulmonary disease. Case presentation A healthy 29-year-old Filipino male presented to the hospital a couple of months after convalescence from coronavirus disease 2019 with severe pleuritic chest pain, fever, chills, and shortness of breath, and was found to have a cavitary lung lesion on chest computed tomography. While conservative management alone failed to improve the patient’s condition, he ultimately underwent left lung video-assisted thoracoscopic surgery decortication. Even though the surgical pathology revealed only necrosis with dense acute inflammation and granulation tissue with no microorganisms, he gradually improved with medical therapy adjunct with surgical therapy. Conclusion Documented cases of cavitary lung disease secondary to coronavirus disease 2019 have been mostly reported in the acute or subacute phase of the infection. However, clinicians should recognize this entity as a late complication of coronavirus disease 2019, even in previously healthy individuals.


2021 ◽  
Vol 2 (6) ◽  
pp. 01-05
Author(s):  
Amanda Jane Thomas ◽  
Jake Causon ◽  
Robyn Cary

The incidence, aetiology and long term outcomes of laryngotracheal complications secondary to Tracheostomy insertion in patients ventilated for COVID-19 critical Illness are currently unknown. We report a single case from our COVID-19 institutional series who developed early subglottic stenosis and subsequent traceomalacia preventing permanent tracheostomy removal despite three decannulation attempts. We consider the known risk factors for laryngotracheal complications following endotracheal intubation and tracheostomy, in combination with the potential impact of COVID-19 pathological features. Clinical indicators from the case presentation are explored in relation to the early identification of tracheomalacia in the patient with Tracheostomy, and the mechanisms underlying these presenting features are proposed.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Azhar Hussain ◽  
Amina Khalil ◽  
Priyanka Kolvekar ◽  
Prity Gupta ◽  
Shyamsunder Kolvekar

Abstract Background COVID-19 has caused a global pandemic of unprecedented proportions. Elective cardiac surgery has been universally postponed with only urgent and emergency cardiac operations being performed. The National Health Service in the United Kingdom introduced national measures to conserve intensive care beds and significantly limit elective activity shortly after lockdown. Case presentation We report two cases of early post-operative mortality secondary to COVID-19 infection immediately prior to the implementation of these widespread measures. Conclusion The role of cardiac surgery in the presence of COVID-19 is still very unpredictable and further studies on both short term and long term outcomes are warranted.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Shuntaro Oribe ◽  
Takafumi Toyohara ◽  
Eikan Mishima ◽  
Takehiro Suzuki ◽  
Koichi Kikuchi ◽  
...  

Abstract Background Fibromuscular dysplasia (FMD) often causes renal artery stenosis with renovascular hypertension. Recent clinical outcomes encourage percutaneous transluminal renal angioplasty (PTRA) to treat FMD; however, the necessary follow-up period remains unclear. Moreover, previous studies have not revealed the difference in the period until recurrence between two major types of FMD—multifocal and focal. Case presentation We describe two patients with multifocal FMD who developed hypertension during their teenage years and had recurrence of FMD > 10 years after PTRA. We further examined the types of FMD and age of onset in 26 patients who underwent PTRA. The period until recurrence of multifocal FMD was longer than that of focal FMD. Moreover, patients with early-onset multifocal FMD are likely to have a delayed recurrence after PTRA compared to other types. Conclusions Our report suggests that patients with multifocal FMD, especially those with onset at an early age, may need long-term follow-up for at least ≥ 10 years.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yan Le Ho ◽  
Pui Fong Ng ◽  
Sotheenathan Krishinan ◽  
Basheer Ahamed Abdul Kareem

Abstract Background Papillary fibroelastomas are rare but benign cardiac tumour that are often found on cardiac valvular surfaces. Their clinical manifestations ranging from clinically asymptomatic to substantial complications that are usually secondary to systemic embolism. Multiple theories have been proposed to explain the pathophysiology of its formation. Case presentation We reported a rare case of large papillary fibroelastoma in the right atrium of a young gentleman which was complicated with pulmonary embolism. Transthoracic echocardiography identified a large pedunculated mass measuring 3.4cmX3.4cmX2cm in right atrium with stalk attached to interatrial septum. The intracardiac mass was resected surgically, which revealed papillary fibroelastoma in histology examination. Conclusion Differential diagnosis of intracardiac masses requires clinical information, laboratory tests and imaging modalities including echocardiography. Incidentally discovered papillary fibroelastomas are treated on the basis of their sizes, site, mobility and potential embolic complications. Due to the embolic risk inherent to intraacardiac masses, surgical resection represents an effective curative protocol in treating both symptomatic and asymptomatic right sided and left sided papillary fibroelastomas, with excellent long term postoperative prognosis.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ting Ting Zhu ◽  
Jin Wu ◽  
Li Yuan Wang ◽  
Xiao Mei Sun

Abstract Background Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. Case presentation The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. Conclusions We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.


2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Masaki Nio ◽  
Motoshi Wada ◽  
Hideyuki Sasaki ◽  
Hiromu Tanaka ◽  
Masatoshi Hashimoto ◽  
...  

Abstract Background Although cancer occurrence following surgery for biliary atresia has gradually increased, the development of cholangiocarcinoma in a native liver survivor of biliary atresia is extremely rare. Case presentation A 3-month-old female patient with the correctable type of biliary atresia underwent a cystoduodenostomy. At 16 years of age, she underwent multiple surgeries including lysis of intestinal adhesions, ileostomy, and gastrojejunostomy at another hospital. At 54 years of age, she underwent lithotomy at the porta hepatis, resection of the residual cystic bile duct with gallbladder, and hepaticojejunostomy in Roux-en-Y fashion. As she approached the age of 63, her computed tomography scan showed no liver tumors. In the following year, she developed cholangiocarcinoma at the porta hepatis and underwent chemotherapy. However, the cancer progressed, and she died before she reached the age of 64 years. Conclusions Cholangiocarcinoma is extremely rare in patients with biliary atresia. However, physicians should follow up patients with biliary atresia as closely as possible, as malignant tumors secondary to biliary atresia may increase in number in the near future because of the growing number of long-term survivors with biliary atresia.


Author(s):  
Theodosia Bartzela ◽  
Björn Theuerkauf ◽  
Elisabeth Reichardt ◽  
Malte Spielmann ◽  
Charlotte Opitz

Abstract Objectives To clinically characterize patients and family members with cleft lip and/or palate (CL/P) and associated congenital malformations or syndromes and propose possible inheritance patterns. Materials and methods An observational study of patients with CL/P, including medical and family history and intra- and extra-oral examination of their family members, was performed. Results Two hundred sixty-six patients, 1257 family members, and 42 pedigrees were included in the study. The distribution of patients according to the cleft type was 57.9% with CLP, 25.2% with cleft palate (CPO), and 12.8% with cleft lip with/without alveolus (CL/A). Seventy-four (27.8%) patients had associated malformations, and 24 (9.2%) a syndrome. The skeletal (27.7%), cardiovascular (19.3%) systems, and eyes (22.9%) were most commonly affected. Pierre Robin Sequence (7 patients) and van der Woude (4) were the most common syndromes. The majority of patients with CPO (19/24) had an associate syndrome. The families had an average of 2.45 affected members. Conclusion Individual and interfamilial phenotypic variability in patients with CL/P makes the understanding of etiopathogenesis challenging. Clinical relevance The overall prevalence of individuals with CL/P and their pedigrees with associated malformations and syndromes emphasize the need for early identification, interdisciplinary, and long-term planning.


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