P569 Dejerine-Sottas syndrome and cranio-facial dysmorphisms: a case report. (June 2019)

• Record Type: Journal Article
• Authors: Biagini, Alessandra; Nechita, Elena; Reardon, Willie; Greaney, Hilary; Harrison, Ghia
• Is Part Of: Archives of disease in childhood. Volume 104:Supplement 3(2019)
• Page Start: A381
• Page End: A381
• Publication Date: 2019-06
• Subjects: Infants -- Diseases -- Periodicals; Newborn infants -- Diseases -- Periodicals; Fetus -- Diseases -- Periodicals; 618.920105
• DOI: 10.1136/archdischild-2019-epa.903
• Languages: English
• ISSNs: 1359-2998

Abstract

Abstract : Introduction: Dejerine-Sottas syndrome (DSS) is a rare hereditary motor-sensor neuropathy transmitted as either autosomal dominant or recessive and classified as a severe degenerative neuropathy of the Charcot-Marie-Tooth type. DSS is characterized by demyelination and remyelination features with an extensive nerve and root hypertrophy that results in a decreased nerve conduction velocity (<10–12 m/s). The hallmark clinical manifestations develop in early infancy with hypotonia, developmental motor delay and areflexia. Although arthrogryposis and spine deformities are frequent features, there are no direct associations with other dysmorphic features. Case: This report describes a rare association between DSS and cranio facial syndrome. A 5 months old boy first presented in our Clinic with an early onset of motor symptoms manifested by congenital hypotonia, joint laxity particularly involving his lower limbs, failure to thrive, short stature and a significant psychomotor developmental delay. On clinical examination he showed clear dysmorphic features with epicantic folds, hypertelorism, long philtrum, low set ears, downstanding of the eyes particularly the left eye and a convergent left eye squint. Comment: The presence of 'soft' clinical signs can distract from typical features of an underlying neurological syndrome leading to subsequent delayed or misdiagnosis in children with DSS. In our experience, it is therefore important that Paediatricians can be aware of this possible association with this diagnosis and seek expert specialist geneticist advice if suspicious while simultaneously developing a management plan that supports and encourages attainment of maximal developmental process for the child.