RESUMO
Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH, NAGLU, HGSNAT and GNS. It allowed us to identify a novel and likely pathogenic variant p. G205R in SGSH. Protein based Inslico prediction and protein modelling suggests aberration of helical structure of SGSH protein and reduced binding affinity for its substrate.
RESUMO
Electrical shock can result in neurological complications, involving both peripheral and central nervous systems, which may present immediately or later on. High-voltage electrical injuries are uncommonly reported and may predispose to both immediate and delayed neurologic complications. We report the case of a 68-year-old man who experienced a high-voltage electrocution injury, subsequently developed bulbar dysfunction and spontaneously recovered. We describe the development of bulbar palsy following a significant electrical injury, which showed no evidence of this on magnetic resonance imaging. High-voltage electrocution injuries are a serious problem with potential for both immediate and delayed neurologic sequelae. The existing literature has no reports on bulbar dysfunction following electrocution, apart from motor neuron disease.
RESUMO
Acute disseminated encephalomyelitis is very rare following leptospirosis. Here we describe a patient who developed the condition after leptospiral infection, which responded to intravenous immunoglobulin only.