Clinical-electromyographic diagnosis of Dejerine Sottas syndrome in a neonatal ICU: case report

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Abstract

Case Presentation: Patient son of consanguineous parents. Pregnancy with severe polyhydramnios. Born at 37 weeks. Required neonatal resuscitation in the delivery room with Apgar 1/4. During ICU stay, hypotonia was observed. On physical examination, the child had arthrogryposis, ophthalmoplegia, bifrontal narrowing, anteverted nostril and pseudomyopathic face. Global hypotonic with reduced distal limb strength. Reflexes preserved, except Achilles and Styloradius reduced by 1+/4. Research of cerebrospinal fluid with albumin-cytosolic dissociation (leukocytes: 1.6, protein: 501). Expanded infectious investigation with signs of radiculopathy on neuraxial MRI, without positivity in serologies or viral and bacterial PCRs performed. Performed first dose of immunoglobulin without clinical improvement. Negative Anti-GQ-1b research. In parallel, genetic research was started with a panel of neuromuscular diseases, with no identified alterations. Electroneuromyography confirming the alteration pattern of Dejerine Sottas Syndrome. At 6 months, he was readmitted with epilepsy. It has an electroencephalogram with frequent irregular epileptiform discharges of multifocal projection. Where it was necessary to start anti-crisis drugs showing good control with the use of Levetiracetam and Carbamazepine. Genetic testing is ongoing.

Discussion: Dejerine-Sottas syndrome is a severe inherited demyelinating neuropathy that presents in early childhood with hypotonia. It may have autosomal dominant or recessive inheritance. The phenotype is characterized by delayed motor development, prominent, distal sensory loss followed by proximal weakness, absent reflexes, ataxia, and profound slowing of nerve conduction velocities to ≤ 10 m/sec.

Final Comments: The findings of cauda equina nerve root thickening and cranial nerve thickening identified on neuroimaging, as well as protein-cytosolic dissociation, are not pathognomonic for Dejerine-Sottas disease and may be seen in infectious and inflammatory conditions, including Guillain-Barre syndrome. However, the identification of these signs in the neonatal period should indicate the possibility of Dejerine Sottas Syndrome, and it is important to carry out an electroneuromyographic and genetic study.

Publication History

Article published online:
12 May 2025