It is known that early sensory deprivation modifies brain functional structure and connectivity. The aim of the present study was to investigate the neuro-functional organization of reading in a patient with profound congenital unilateral deafness. Using event-related potentials (ERPs), we compared cortical networks supporting the processing of written words in patient RA (completely deaf in th...

Congenital insensitivity to pain is a rare clinical syndrome characterized by dramatic impairment of pain perception since birth and is generally caused by a hereditary sensory and autonomic neuropathy with loss of the small-calibre, nociceptive nerve fibres. We report a 9-year-old case, with a generalized congenital insensitivity to pain. The patient was referred to our Department by a private...

Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo h...

Congenital prosopagnosia refers to the deficit in face processing that is apparent from early childhood in the absence of any underlying neurological basis and in the presence of intact sensory and intellectual function. Several such cases have been described recently and elucidating the mechanisms giving rise to this impairment should aid our understanding of the psychological and neural mecha...

This study aims to identify and analyze, through literature, speech therapy care in the Neonatal Intensive Care Unit (NICU) for congenital heart disease newborns. The source data is from Latin American and Caribbean Health Sciences (LILACS), Medical Literature Analysis and Retrieval Sistem Online (MEDLINE), SciELO and the search engine of the National Library of Medicine in the databases PubMed...

UNLABELLED Transient congenital visual deprivation affects visual and multisensory processing. In contrast, the extent to which it affects auditory processing has not been investigated systematically. Research in permanently blind individuals has revealed brain reorganization during auditory processing, involving both intramodal and crossmodal plasticity. The present study investigated the effe...

PURPOSE Infantile nystagmus syndrome (INS) can be idiopathic or associated with ocular or systemic disease. The ocular oscillation of INS directly contributes to loss of visual acuity. In this study, visual acuity development in patients with INS was examined. METHODS Children with INS were classified as having idiopathic INS (n = 84) or INS with an associated sensory deficit: INS and albinis...

Background Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities. The condition has been mapped to an autosomal recessive trait to chromosome 2q 24.3 with mutations on the SCN9A gene. Case report A 2 year old Caucasian female presented with CIP. Bite injuries, tongue wounds and unac...

PURPOSE To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. METHODS The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual...

INTRODUCTION CMT4B2 is a rare subtype of CMT caused by pathogenic mutations in the myotubularin-related protein-13/set binding factor 2 (MTMR13/SBF2) gene. Nerve conduction velocities are markedly reduced and focally folded myelin sheaths are present on nerve biopsies. We presented two patients from two related Portuguese families with peripheral neuropathy caused by a novel mutation in the MTM...