Congenital facial paralysis, ptosis and ophthalmoplegia: case report of a congenital cranial dysinnervation disorder
Introduction: The congenital cranial dysinnervation disorders (CCDD) are a group of non-progressive, familial or sporadic, neuromuscular diseases that result from abnormal development of one or more cranial nerves and/or nucleus. Mobius syndrome and Congenital fibrosis of extraocular muscles (CFEOM) are two rare disorders included in this group. Mobius Syndrome is characterised by uni- or bilateral facial and abducens paralysis, with or without dysfunction of other cranial nerves; most of the cases are sporadic and the cause is multifactorial. CFEOM is a genetically defined syndrome, characterised by severe limitation of vertical gaze and variable limitation of horizontal gaze, with or without ptosis. Both can have associated supratentorial brain abnormalities.
Case presentation: We report a case of an 8-year-old child that performed MRI at 3 months for facial paralysis, ptosis and ophthalmoplegia. First MRI showed hypoplasia of the left half of brainstem, with associated left III, V, VI, VII, VIII, IX, X, XI cranial nerves hypoplasia. There was reduction in left extraocular muscles thickness. It also revealed left basal ganglia and thalamus dysgenesis and optic nerve hypoplasia. Follow-up MRI performed at age of 5 years, demonstrated that these abnormalities remained static. The child also had left blindness and deafness and right mild hemiparesis.
Conclusions: The MRI abnormalities seen in this case fit into the spectrum of congenital cranial dysinnervation disorders. Brainstem hypoplasia can occur in both Mobius syndrome and CFEOM. Multiple cranial nerves can be affected in both, although it is a more typical feature of Mobius syndrome. Basal ganglia and thalamus hypoplasia were described in CFEOM.