Guillain–Barré syndrome is characterized by progressive motor weakness, sensory changes, dysautonomia, and areflexia. Cranial nerve palsies are frequent in Guillain–Barré syndrome. Among cranial nerve palsies in Guillain–Barré syndrome, facial nerve palsy is the most common affecting around half of the cases. Facial palsy in Guillain–Barré syndrome is usually bilateral. We describe a pediatric Guillain–Barré syndrome variant presenting with unilateral peripheral facial palsy and dysphagia. A 5-year-old boy had progressive lower extremity weakness and pain 3 days prior to onset of unilateral peripheral facial palsy. On presentation, diagnosis of Guillain–Barré syndrome was supported by areflexia and albuminocytologic dissociation. His condition deteriorated with a decline in his respiratory effort and inability to handle secretions. He was given non-invasive ventilation to prevent worsening of his acute respiratory failure. Brain and spine magnetic resonance imaging scans showed enhancement of the left bulbar nerve complex and anterior and posterior cervical nerve roots with gadolinium. Treatment with intravenous immunoglobulin led to an uneventful clinical course with partial recovery within 2 weeks. In summary, Guillain–Barré syndrome should be considered as a possible cause of unilateral peripheral facial palsy. Guillain–Barré syndrome patients with facial nerve and bulbar palsy require close monitoring as they are at risk of developing acute respiratory failure. Early intervention with intravenous immunoglobulin may benefit these patients. Magnetic resonance imaging findings may lend support to early intervention.

We report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervous system malformations. The loss of EDNRB gene in addition to bilateral hearing loss and HSCR suggested an additional diagnosis of Waardenburg–Shah's syndrome. This case highlights the fact that prior knowledge of this rare association in infants with 13q deletion syndrome would enable early diagnosis and prompt interventions to prevent gastrointestinal complications.

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