scholarly journals Late presentation of shunt lesions in Down syndrome patients: the importance of multidisciplinary assessment and lifelong follow-up

2021 ◽  
Vol 5 (8) ◽  
Author(s):  
Inga Voges ◽  
Evangelia Nyktari
Keyword(s):  
Down Syndrome ◽  
Late Presentation ◽  
Multidisciplinary Assessment

scholarly journals Against all odds—late repair of multiple shunt lesions in a patient with Down syndrome: a case report

2021 ◽  
Vol 5 (7) ◽  
Author(s):  
Alexandra Arvanitaki ◽  
Katarzyna Januszewska ◽  
Edward Malec ◽  
Helmut Baumgartner ◽  
Hans-Gerd Kehl ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Septal Defect ◽  
Surgical Repair ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Resistance Index ◽  
Late Presentation ◽  
Careful Consideration ◽  
Pulmonary Vascular Disease

Abstract Background Children with congenital heart defects (CHD) usually undergo elective surgical repair of haemodynamically relevant shunt lesions within the first year of life. Due to susceptibility for pulmonary arterial hypertension (PAH) in patients with Down syndrome, repair is usually aimed for no later than 6 months of life. However, with rising immigration from developing countries to Europe, more patients with unrepaired CHD are diagnosed at a later age. Anatomical repair may be precluded, when advanced pulmonary vascular disease has been established. Case summary We report a 39-month-old male patient with Down syndrome with a large non-restrictive perimembranous ventricular septal defect, a large patent ductus arteriosus, and a secundum-type atrial septal defect with a prominent left-to-right shunting. Haemodynamic assessment revealed only a mild increase of pulmonary artery pressures (mPAP) with low pulmonary vascular resistance index (PVRi). Vasodilator testing led to a further increase of the left-to-right shunt and decrease of PVRi, suggesting operability. After careful consideration, the patient underwent complete surgical repair with a good post-operative clinical outcome. Cardiac catheterization 6 months after corrective repair showed a normal mPAP. No signs of PAH have been detected in the medium-term follow-up. Discussion Expertise, increased physician awareness, and a thorough pre-operative multidisciplinary evaluation are paramount to determine the best treatment approach for patients, who may present late with multiple shunts, and—in our case—underlying Down syndrome. Long-term close post-surgical follow-up in an expert centre is warranted to promptly diagnose and treat a possible late presentation of PAH appropriately.

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

2020 ◽  
pp. 1-4
Author(s):  
Valentina Orlando ◽  
Pietro Spennato ◽  
Maria De Liso ◽  
Vincenzo Trischitta ◽  
Alessia Imperato ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fourth Ventricle ◽  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Radiological Finding ◽  
Outlet Obstruction ◽  
Third Ventriculostomy ◽  
Viable Option ◽  
Case Presentation

<b><i>Introduction:</i></b> Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. <b><i>Case Presentation:</i></b> We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magen­die foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. <b><i>Conclusion:</i></b> Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.

scholarly journals A 17 year experience of attrition from care among HIV infected children in Nnewi South-East Nigeria

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Chinyere Ukamaka Onubogu ◽  
Ebelechuku Francesca Ugochukwu
Keyword(s):  
Financial Constraints ◽  
Scale Up ◽  
Linkage To Care ◽  
Late Presentation ◽  
Young Age ◽  
Attrition Rate ◽  
Bivariate Analysis ◽  
Female Ratio ◽  
Art Initiation

Abstract Background A large number of HIV-infected children continue to die despite reported scale-up of paediatric HIV services. Aim The trend in attrition among children enrolled in an anti-retroviral therapy (ART) programme was evaluated. Methods This was a retrospective review of children enrolled into NAUTH ART programme between 2003 and 2019. Results 1114 children < 15 years at enrolment were studied. The male: female ratio was 1:1 while median age at enrolment was 4.3 years. About two-thirds had WHO stage 3 or 4 disease at enrolment. The rate of loss to follow-up (LTFU) and death were 41.0 and 8.4%, respectively, with overall attrition incidence of 108/1000PY. Despite the downward trend, spikes occurred among those enrolled in 2008 to 2011 and in 2017. The trend in 6-, 12-, 24- and 36-months attrition varied similarly with overall rates being 20.4, 27.7, 34.3 and 37.3%, respectively. Among those on ART, > 50% of attrition was recorded within 6 months of care. Advanced WHO stage, young age, non-initiation on ART or period of enrolment (P <  0.001), and caregiver (p = 0.026) were associated with attrition in bivariate analysis. Apart from caregiver category, these factors remained significant in multivariate analysis. Most LTFU could not be reached on phone. Among those contacted, common reasons for being lost to follow-up were financial constraints, caregiver loss, claim to divine healing, family disharmony/child custody issues and relocation of family/child. Conclusion/recommendation Attrition rate was high and was mostly due to LTFU. Predictors of attrition were late presentation, young age, delay in ART initiation and financial constraints. Efforts should be intensified at early diagnosis, linkage to care and implementation of “test and treat” strategy. Innovative child centered approaches should be adopted to enable the HIV-infected children remain in care despite challenges which can truncate treatment.

A Longitudinal Study of Atlanto-Dens Relationships in Asymptomatic Individuals with Down Syndrome

PEDIATRICS ◽  
1992 ◽  
Vol 89 (6) ◽  
pp. 1194-1198 ◽  
Author(s):  
Siegfried M. Pueschel ◽  
Francis H. Scola ◽  
John C. Pezzullo
Keyword(s):  
Down Syndrome ◽  
Clinical Symptoms ◽  
Age Groups ◽  
Atlantoaxial Instability ◽  
History Of ◽  
Child Development Center ◽  
Asymptomatic Individuals ◽  
Development Center ◽  
Over Time

This study was designed to investigate the natural history of atlantoaxial instability in individuals with Down syndrome and to determine whether significant changes in C1-C2 relationship are taking place over time. Although more than 400 patients with Down syndrome who are presently followed at the Child Development Center had cervical spine radiographic examinations in the past, only 141 patients who had serial radiological examinations and whose radiographs were available for reevaluation participated in this study. The results of our investigations revealed that there were only minor changes (1 to 1.5 mm) of atlanto-dens interval measurements over time in 130 (92%) patients with Down syndrome. Eleven patients (8%) had changes of atlanto-dens interval measurements between 2 and 4 mm over time; however, none of these patients had any clinical symptoms. The analyses of data obtained from several subgroups (males and females, various age groups, and patients with and without atlantoaxial instability) did not show any significant changes of atlanto-dens interval measurements of successively obtained radiographs. Our recommendations for and rationale of routine screening for atlantoaxial instability and follow-up examinations are discussed in detail.

Participation restrictions in a teenager with down syndrome: A nine year follow up case study

2015 ◽  
Vol 1 (1) ◽  
pp. 49
Author(s):  
Asha Chitnis ◽  
Madhavi Kelapure ◽  
Reena Mody ◽  
Sujata Noronha ◽  
Kruti Shah ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Participation Restrictions

A case of late presentation of darunavir-related cholestatic hepatitis

2019 ◽  
Vol 30 (6) ◽  
pp. 620-622 ◽  
Author(s):  
Nina Yancheva ◽  
Radin Tzonev
Keyword(s):  
Infected Patient ◽  
Late Presentation ◽  
Cholestatic Hepatitis ◽  
Prolonged Treatment ◽  
Late Development ◽  
The Third ◽  
Elevated Transaminase ◽  
Immunodeficiency Virus ◽  
Combined Antiretroviral Therapy

We report a case of darunavir-induced cholestatic hepatitis in a human immunodeficiency virus (HIV)-infected patient in the third year of his combined antiretroviral therapy. During the patient’s monthly follow-up with regard to his HIV infection, elevated transaminase levels were detected. The patient was subsequently hospitalised at the AIDS and gastroenterology departments. All tested viral hepatitis markers were negative. A diagnosis of autoimmune hepatitis was also ruled out. The liver biopsy revealed cholestatic hepatitis. Darunavir withdrawal resulted in a progressive decrease in liver enzyme levels. We highlight the importance of recognising late development of liver injury secondary to the use of darunavir, and the importance of monitoring liver function in patients undergoing prolonged treatment involving darunavir.

Postintravenous immunoglobulin stroke in a toddler with Down syndrome: a diagnostic challenge

2020 ◽  
Vol 13 (5) ◽  
pp. e233149 ◽  
Author(s):  
Teck-Hock Toh ◽  
Everlyn Coxin Siew ◽  
Chae-Hee Chieng ◽  
Hussain Imam Mohd Ismail
Keyword(s):  
Down Syndrome ◽  
Cerebral Arteries ◽  
Severe Pneumonia ◽  
Cerebral Vessels ◽  
Partial Recovery ◽  
Diagnostic Challenge ◽  
Middle Cerebral Arteries ◽  
Collateral Vessels ◽  
Carotid Doppler

Children with Down syndrome have a higher risk of stroke. Similarly, intravenous immunoglobulin (IV Ig) is also known to cause a stroke. We reported a 3-year-old boy with Down syndrome who presented with severe pneumonia and received IV Ig. He developed right hemiparesis 60 hours after the infusion. Blood investigations, echocardiography and carotid Doppler did not suggest vasculitis, thrombophilia or extracranial dissection. Brain computerised tomography (CT) showed acute left frontal and parietal infarcts. Initial magnetic resonance angiography (MRA) of cerebral vessels showed short segment attenuations of both proximal middle cerebral arteries and reduction in the calibre of bilateral supraclinoid internal carotid arteries. The boy was treated with enoxaparin and aspirin. He only had partial recovery of the hemiparesis on follow-up. A repeat MRA 13 months later showed parenchymal collateral vessels suggestive of moyamoya disease. We recommend imaging the cerebral vessels in children with a high risk of moyamoya before giving IV Ig.

scholarly journals Late presentation of posterior urethral valve: two case reports

2008 ◽  
Vol 126 (2) ◽  
pp. 126-127 ◽  
Author(s):  
Carlos Márcio Nóbrega de Jesus ◽  
José Carlos de Souza Trindade Filho ◽  
José Goldberg
Keyword(s):  
Urinary Tract Infection ◽  
Case Report ◽  
Case Reports ◽  
Clinical Signs ◽  
Posterior Urethral Valve ◽  
Late Presentation ◽  
The Other ◽  
Voiding Cystourethrography ◽  
Urethral Valve

CONTEXT: Posterior urethral valve (PUV) is a widely known condition affecting males that generally presents prenatally or at birth. PUVs have also been occasionally described in literature in cases diagnosed during adolescence or adulthood. CASE REPORT: This report presents two late PUV cases, one in a teenager and the other in an adult. Both cases had had clinical signs of urinary tract infection and obstructive urinary symptoms. The diagnoses were made by means of voiding cystourethrography and urethrocystoscopy. Endoscopic valve fulguration was the treatment chosen for both. Their follow-up was uneventful.

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