ABSTRACT
Limb-girdle muscular dystrophy 2S (LGMD2S) is an autosomal recessive condition due to mutations in the TRAPPC11 gene. It is recently described with only 9 prior reported individuals. In addition to the muscular dystrophy, some affected individuals have small head size, global developmental delay, seizures, cataracts, and liver problems. Siblings with an uncharacterized LGMD were assessed; whole-exome screening revealed compound heterozygous mutations in the TRAPPC11 gene. Their presentation helps confirm the emerging phenotype for LGMD2S.
Subject(s)
Family Health , Muscular Dystrophies, Limb-Girdle/genetics , Mutation/genetics , Vesicular Transport Proteins/genetics , Child , Creatine Kinase/metabolism , Electroencephalography , Female , Humans , Magnetic Resonance Imaging , Male , Muscular Dystrophies, Limb-Girdle/complications , Muscular Dystrophies, Limb-Girdle/diagnostic imaging , Scoliosis/etiologyABSTRACT
Differentiating Guillain-Barré syndrome (GBS) from inherited neuropathies and other acquired peripheral neuropathies requires understanding the atypical presentations of GBS and its variant forms, as well as historical and physical features suggestive of inherited neuropathies. GBS is typically characterized by the acute onset of ascending flaccid paralysis, areflexia, and dysesthesia secondary to peripheral nerve fiber demyelination. The disorder usually arises following a benign gastrointestinal or respiratory illness, is monophasic, reaches a nadir with several weeks, and responds to immunomodulatory therapy. Inherited neuropathies with onset before adulthood, whose presentation may mimic Guillain-Barré syndrome, are reviewed.
Subject(s)
Guillain-Barre Syndrome/diagnosis , Peripheral Nervous System Diseases/diagnosis , Child , Diagnosis, Differential , Guillain-Barre Syndrome/therapy , Humans , Immunomodulation , ImmunotherapySubject(s)
Aortic Coarctation/diagnosis , Eye Abnormalities/diagnosis , Mass Screening/methods , Neurocutaneous Syndromes/diagnosis , Aortic Coarctation/complications , Aortic Coarctation/therapy , Consensus , Eye Abnormalities/complications , Eye Abnormalities/therapy , Female , Humans , Infant , Male , Neurocutaneous Syndromes/complications , Neurocutaneous Syndromes/therapy , Practice Guidelines as Topic , Risk AssessmentABSTRACT
This paper reports the findings from a pilot study of four patients with medically refractory epilepsy undergoing pre-surgical evaluation with ages ranging from 5 to 17 years. Video electroencephalography recordings and data from a near infrared spectroscopy cerebral/somatic oximeter were gathered and related to electrographic seizure onset and offset as determined by a paediatric epileptologist. All four patients showed haemodynamic changes associated with epileptiform activities. The increased blood flow clearly coincided with epileptiform activity and continued to increase as the epileptiform activity built up. Regional cerebral oxygen saturation increased in the epileptogenic focus, perhaps due to loss of cerebrovascular autoregulation. These findings reinforce that near infrared spectroscopy can potentially be used in a wide spectrum of patients with epilepsy regardless of the underlying brain pathology.
