Josef Finsterer

Re: Utility of Routine 24-Hour Electrocardiographic Holter Monitoring for Detecting Atrial Fibrillation in Patients Admitted With Acute Stroke Syndromes

Re: Sodium Valproate-Induced Myopathy in a Child

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

Similarities between a mitochondrial disorder (MID) and amyotrophic lateral sclerosis (ALS) fade with disease progression and the development of mitochondrial multiple organ dysfunction syndrome (MIMODS). However, with mild MIMODS, a MID may still be misinterpreted as ALS. We report a 48-year-old male who presented to …

Re: Guillain-Barré Syndrome Associated with SARS-CoV-2 in Two Paediatric Patients

Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion

Before blaming severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) as trigger of new-onset ocular myasthenia, alternative etiologies must be ruled out

The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness

Maternally inherited diabetes and deafness (MIDD) is not only a disorder of the pancreas and ears but a multisystem mitochondrial disorder syndrome. Hypogonadism, however, has not been reported as a phenotypic feature of MIDD. We report a single case of a patient with MIDD which manifested clinically at 41 years old. I …

Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report

The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a si …