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Methylmalonic acidaemia masquerading as a neurodegenerative disorder.
BMJ Case Rep
January 2025
Paediatrics, King George's Medical College, Lucknow, Uttar Pradesh, India.
We present the case of a toddler displaying neuroregression post-acute gastroenteritis, initially suggesting neurodegenerative disorders. Further investigations showed atypical results-neuroimaging was inconsistent with suspected disorders, while fundus evaluation, evoked potentials and nerve conduction velocity were normal. Specialised tests using gas chromatography mass spectrometry and tandem mass spectrometry identified methylmalonic acidaemia (MMA), implicating abnormal neurometabolism.
View Article and Find Full Text PDFIsolated, severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus infection in a late preterm neonate.
BMJ Case Rep
January 2025
Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine.
View Article and Find Full Text PDFThe Diagnostic and Therapeutic Dilemma of Multiple Left Ventricular Masses.
J Community Hosp Intern Med Perspect
November 2024
Division of Hospital Internal Medicine, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
Intracardiac masses are rare and potentially life-threatening entities with diverse clinical presentations. The prompt identification of cardiac masses is critical. However, even with the advancement we have in imaging modalities, diagnosing cardiac masses remains a formidable challenge.
View Article and Find Full Text PDFFactors associated with true-positive and false-positive diagnoses of behavioural variant frontotemporal dementia in 100 consecutive referrals from specialist physicians.
Eur J Neurol
January 2025
The Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.
Background: The behavioural variant of frontotemporal dementia (bvFTD) is a challenging diagnosis due to overlapping symptoms with psychiatric and other neurological conditions. Accordingly, misdiagnosis is common. The present study aimed to identify clinical factors contributing to misdiagnoses of bvFTD by specialist physicians.
View Article and Find Full Text PDFPresentation, Management, and Outcome of Tick-Borne Encephalitis in Patients Referred to Infectious Diseases or Neurology.
J Clin Med
December 2024
Department of Infectious Diseases, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
: In Slovenia, patients with suspected tick-borne encephalitis (TBE) were historically referred to infectious diseases (ID), but during the COVID-19 pandemic, there were increased referrals to neurology. This study compared the clinical management of TBE patients between ID specialists and neurologists and assessed patients' outcomes. : We retrospectively reviewed the clinical, laboratory, and imaging data of 318 adult patients with TBE managed by ID (n = 256; 80.
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