Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

The study of Drosophila neurodegenerative mutants combined with genetic and biochemical analyses lead to the identification of multiple complex mutations in 60 patients with a novel form of ataxia/leukoencephalopathy

Lemierre Syndrome: Two Preschool Children with Cerebral Infarcts

We report two children who developed hemiparesis secondary to cerebral infarcts complicating Lemierre syndrome. The first case is a one-year-old patient who presented a left internal jugular vein thrombosis and a left carotid compression due to retropharyngeal cellulitis. The second case is a five-year-old girl who presented a left internal jugular vein and a right carotid artery thrombosis associated with an oropharyngeal cellulitis. Etiologic agents involved were Staphylococus aureus in the first case and Fusobacterium necrophorum in the second case. These cases call for vigilance among physicians for this rare syndrome, its unusual presentation and its associated severe complications

A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.

We report a male term newborn with genetically confirmed spinal muscular atrophy type 0, presenting with arthrogryposis and severe generalized weakness and requiring ventilatory support. Muscle biopsy revealed fibers with central nuclei resembling myotubes and negative myotubularin immunohistochemical staining compared with a control muscle biopsy. The absence of myotubularin associated with survival motor neuron protein deficiency suggests that survival motor neuron protein may have a role in muscle fiber maturation and myotubularin expression. Studying the pathology of this rare and lethal neonatal form of spinal muscular atrophy may further our understanding of spinal muscular atrophy pathogenesis

Critical Illness Polyneuromyopathy in a Child with Severe Demyelinating Myelitis

We report a child presenting with severe demyelinating myelitis complicated with critical illness polyneuropathy. This previously healthy 8-month-old boy presented with acute superior limb weakness, absent tendon reflexes, and respiratory failure. Spinal magnetic resonance imaging showed an extensive cervical demyelinating lesion. Spinal cord trauma was suspected and high doses of dexamethasone were administered. Electromyography and nerve conduction studies showed absence of compound muscle action potentials and sural nerve sensory action potential, which was suggestive of a severe Guillain-Barré syndrome. However, intravenous immunoglobulins did not induce any improvement. Afterward, sural nerve biopsy showed a mild neuropathy, but muscle biopsy revealed abnormalities compatible with severe critical illness myopathy. After 5 months of evolution without improvement, the patient died following withdrawal of life support therapy. This case highlights the possible occurrence of critical illness polyneuromyopathy when treatment with corticosteroids are used in patients with acute demyelinating myelitis.info:eu-repo/semantics/publishe

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) due to previously undescribed mutations (Pro250Thr, Arg88Cys) in the gene for the E1alpha subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barre syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients