False Negative Carrier Screening in Spinal Muscular Atrophy

2019 ◽  
Vol 35 (4) ◽  
pp. 274-277
Author(s):  
Sophie Butcher ◽  
Melanie Smith ◽  
Ian R. Woodcock ◽  
Martin Delatycki ◽  
Monique M. Ryan ◽  
...  
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Diagnostic Testing ◽  
False Negative ◽  
Carrier Screening ◽  
Carrier Testing ◽  
Clinical Suspicion ◽  
Negative Results ◽  
False Negative Results

We describe a case of spinal muscular atrophy diagnosed in an infant despite previous parental carrier testing suggesting low risk of the disease. This case report explains how this situation arose and illustrates that clinicians need to perform diagnostic testing in children where clinical suspicion for spinal muscular atrophy is high, regardless of the result of previous parental carrier testing, because of the risk of false negative results.

Difficulties in diagnosing vertebral osteomyelitis in a child

2021 ◽  
Vol 14 (1) ◽  
pp. e236037
Author(s):  
Jonathan Holzmann ◽  
Sunday Pam ◽  
Geoffrey Clark
Keyword(s):  
False Negative ◽  
Vertebral Osteomyelitis ◽  
Delayed Diagnosis ◽  
Abdominal Ultrasound ◽  
Clinical Suspicion ◽  
Thoracic Vertebrae ◽  
Negative Results ◽  
False Negative Results ◽  
The Face ◽  
Initial Imaging

Vertebral osteomyelitis is a rare diagnosis and often delayed diagnosis in children. This is a case of a child presenting with fever, back pain and raised C reactive protein who was found to have a Staphylococcus aureus (S.aureus) bacteraemia. Initial imaging with CT, MRI of the spine and abdominal ultrasound failed to demonstrate a vertebral osteomyelitis or identify another source of the bacteraemia. Due to the high clinical suspicion of a spinal source of the infection, second-line investigations were arranged. A bone scan identified an area of increase metabolic activity in the 12th thoracic vertebrae (T12) and subsequently a diagnosis was confirmed with a focused MRI of T12. This serves as an opportunity to discuss the diagnostic difficulty presented by paediatric vertebral osteomyelitis and more generally the need for clinicians to pursue their clinical suspicion in the face of false negative results to make an accurate and timely diagnosis.

scholarly journals Torsion of Testis in an Infant with Unilateral UDT

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Mohammad Kazem Moslemi ◽  
Mehdi Abedinzadeh ◽  
Shabir Al-Mousawi
Keyword(s):  
Undescended Testis ◽  
False Negative ◽  
Clinical Suspicion ◽  
Left Testis ◽  
Negative Results ◽  
False Negative Results ◽  
Complete Physical Examination ◽  
Results Management ◽  
One Year ◽  
Rule Out

Torsion of an undescended testis is uncommon. Torsion of a cryptorchid testicle presents a nonspecific symptomatology. Clinical suspicion indicates emergent surgical exploration, irrespective of Doppler ultrasound with its inherent false negative results. Management of the contralateral testis is controversial. We emphasize the need of a complete physical examination of the child who goes to the emergency room with nonspecific symptoms of abdominal pain and ipsilateral empty hemiscrotum to rule out torsion of a cryptorchid testicle. Herein, we report a one-year-old infant with missed torsion of undescended left testis.

scholarly journals Case Report: Three's a crowd: a case report examining the diagnostic and pharmacokinetic challenges in HIV-tuberculous meningitis-malaria co-infection

2018 ◽  
Vol 3 ◽  
pp. 111
Author(s):  
Jayne Ellis ◽  
Prosperity C. Eneh ◽  
Kenneth Ssebambulidde ◽  
Morris K. Rutakingirwa ◽  
Mohammed Lamorde ◽  
...  
Keyword(s):  
Case Report ◽  
Treatment Guidelines ◽  
Plasma Concentrations ◽  
False Negative ◽  
Peripheral Blood Smear ◽  
Pharmacokinetic Studies ◽  
Global Public Health ◽  
Cytochrome P450 Enzymes ◽  
Negative Results ◽  
False Negative Results

In 2016, 10.4 million cases of tuberculosis (TB) were reported globally. Malaria also continues to be a global public health threat. Due to marked epidemiological overlap in the global burden of TB and malaria, co-infection does occur. An HIV-infected, 32-year-old male presented with a two-week history of headache with fevers to Mulago National Referral Hospital, Uganda. Five months prior, he was diagnosed with pulmonary TB. He endorsed poor adherence to anti-tuberculous medications. Mycobacterium tuberculosis in CSF was confirmed on Xpert MTB/RIF Ultra. On day 2, he was initiated on dexamethasone at 0.4mg/kg/day and induction TB-medications were re-commenced (rifampicin, isoniazid, ethambutol, pyrazinamide) for TBM. He continued to spike high-grade fevers, a peripheral blood smear showed P. falciparum parasites despite a negative malaria rapid diagnostic test (RDT). He received three doses of IV artesunate and then completed 3 days of oral artemether/lumefantrine. To our knowledge this is the first published case of HIV-TBM-malaria co-infection. TBM/malaria co-infection poses a number of management challenges. Due to potential overlap in symptoms between TBM and malaria, it is important to remain vigilant for co-infection. Access to accurate parasitological diagnostics is essential, as RDT use continues to expand, it is essential that clinicians are aware of the potential for false negative results. Anti-malarial therapeutic options are limited due to important drug-drug interactions (DDIs). Rifampicin is a potent enzyme inducer of several hepatic cytochrome P450 enzymes, this induction results in reduced plasma concentrations of several anti-malarial medications. Despite recognition of potential DDIs between rifampicin and artemisinin compounds, and rifampicin and quinine, no treatment guidelines currently exist for managing patients with co-infection. There is both an urgent need for the development of new anti-malarial drugs which do not interact with rifampicin and for pharmacokinetic studies to guide dose modification of existing anti-malarial drugs to inform clinical practice guidelines.

Be aware of Shiga-toxin 2f-producing Escherichia coli: case report and false-negative results with certain rapid molecular panels

2020 ◽  
Vol 98 (4) ◽  
pp. 115177
Author(s):  
Aurélie Cointe ◽  
André Birgy ◽  
Alice Pascault ◽  
Ferielle Louillet ◽  
Alice Dufougeray ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Case Report ◽  
Shiga Toxin ◽  
False Negative ◽  
Negative Results ◽  
False Negative Results

scholarly journals NSAID-Induced Small Bowel Diaphragms and Strictures Diagnosed with Intraoperative Enteroscopy

2001 ◽  
Vol 15 (9) ◽  
pp. 619-623 ◽  
Author(s):  
Douglas A Shumaker ◽  
Kari Bladen ◽  
Ronald M Katon
Keyword(s):  
Small Bowel ◽  
Diagnostic Testing ◽  
False Negative ◽  
Exploratory Laparotomy ◽  
Mucosal Damage ◽  
Drug Induced ◽  
Intraoperative Enteroscopy ◽  
Negative Results ◽  
False Negative Results ◽  
Anti Inflammatory

Nonsteroidal anti-inflammatory drugs are known to cause mucosal damage in the stomach and duodenum, which may lead to hemorrhage and perforation. However, these medications may also cause damage in the more distal small bowel. Due to the location of these lesions, currently available diagnostic testing may yield false negative results. Two cases of nonsteroidal anti-inflammatory drug-induced small bowel diaphragms presenting as obscure gastrointestinal hemorrhage and recurrent small bowel obstruction, respectively, are discussed. Intraoperative enteroscopy was used to confirm this diagnosis after other diagnostic tests failed to identify the etiology. This procedure may increase the accuracy of exploratory laparotomy in these challenging cases.

scholarly journals Case Report: Three's a crowd: a case report examining the diagnostic and pharmacokinetic challenges in HIV-tuberculous meningitis-malaria co-infection

2019 ◽  
Vol 3 ◽  
pp. 111
Author(s):  
Jayne Ellis ◽  
Prosperity C. Eneh ◽  
Kenneth Ssebambulidde ◽  
Morris K. Rutakingirwa ◽  
Mohammed Lamorde ◽  
...  
Keyword(s):  
Case Report ◽  
Treatment Guidelines ◽  
Plasma Concentrations ◽  
False Negative ◽  
Peripheral Blood Smear ◽  
Pharmacokinetic Studies ◽  
Global Public Health ◽  
Cytochrome P450 Enzymes ◽  
Negative Results ◽  
False Negative Results

In 2016, 10.4 million cases of tuberculosis (TB) were reported globally. Malaria also continues to be a global public health threat. Due to marked epidemiological overlap in the global burden of TB and malaria, co-infection does occur. An HIV-infected, 32-year-old male presented with a two-week history of headache with fevers to Mulago National Referral Hospital, Uganda. Five months prior, he was diagnosed with pulmonary TB. He endorsed poor adherence to anti-tuberculous medications. Mycobacterium tuberculosis in CSF was confirmed on Xpert MTB/RIF Ultra. On day 2, he was initiated on dexamethasone at 0.4mg/kg/day and induction TB-medications were re-commenced (rifampicin, isoniazid, ethambutol, pyrazinamide) for TBM. He continued to spike high-grade fevers, a peripheral blood smear showed P. falciparum parasites despite a negative malaria rapid diagnostic test (RDT). He received three doses of IV artesunate and then completed 3 days of oral artemether/lumefantrine. To our knowledge this is the first published case of HIV-TBM-malaria co-infection. TBM/malaria co-infection poses a number of management challenges. Due to potential overlap in symptoms between TBM and malaria, it is important to remain vigilant for co-infection. Access to accurate parasitological diagnostics is essential, as RDT use continues to expand, it is essential that clinicians are aware of the potential for false negative results. Anti-malarial therapeutic options are limited due to important drug-drug interactions (DDIs). Rifampicin is a potent enzyme inducer of several hepatic cytochrome P450 enzymes, this induction results in reduced plasma concentrations of several anti-malarial medications. Despite recognition of potential DDIs between rifampicin and artemisinin compounds, and rifampicin and quinine, no treatment guidelines currently exist for managing patients with co-infection. There is both an urgent need for the development of new anti-malarial drugs which do not interact with rifampicin and for pharmacokinetic studies to guide dose modification of existing anti-malarial drugs to inform clinical practice guidelines.

scholarly journals Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas

2019 ◽  
Vol 1 (1) ◽  
Author(s):  
Andreas Thimm ◽  
Saskia Bolz ◽  
Michael Fleischer ◽  
Benjamin Stolte ◽  
Sebastian Wurthmann ◽  
...  
Keyword(s):  
Treatment Options ◽  
Molecular Genetic ◽  
Diagnostic Testing ◽  
False Negative ◽  
Transthyretin Amyloidosis ◽  
Negative Results ◽  
False Negative Results ◽  
Unknown Significance ◽  
Dominant Disease ◽  
Amyloid Polyneuropathy

Abstract Background Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, genetically heterogenous, and clinically variable autosomal dominant disease that severely reduces life expectancy. As treatment options grow, a proper diagnostic approach is mandatory especially in non-endemic regions with diverse genetic backgrounds. Methods We examined 102 neuropathy patients at a German neuromuscular centre. Common causes of polyneuropathy were ruled out by medical history and extensive laboratory testing to define a cohort of patients with progressive polyneuropathy classified as idiopathic. Molecular genetic testing of the entire TTR gene was performed, and the detected amyloidogenic and non-amyloidogenic variants were associated with the observed clinical phenotypes and results of prior diagnostic testing. Results Two of 102 patients tested positive for amyloidogenic mutations (p.Ile127Val and p.Glu81Lys), while a variant of unknown significance, p.Glu26Ser, was found in 10 cases. In both positive cases, previous negative biopsy results were proved by gene sequencing to be false negative. In case of the p.Glu81Lys mutation we detected clinical presentation (combination of severe polyneuropathy and cardiomyopathy), ethnic background (patient of polish origin, mutation only reported in Japanese families before), and disease course clearly differed from well-known cases of the same mutation in the literature. Conclusions In conclusion, transthyretin hereditary amyloid polyneuropathy (ATTR-PN) should be considered in cases of otherwise idiopathic polyneuropathy. Sequencing of the four exons of the TTR gene should be considered the key step in diagnosis, while tissue biopsy possibly leads to false negative results.

Sign in / Sign up

Export Citation Format

Share Document