Moebius-plus: a severe congenital multiple cranial neuropathy syndrome

Area of Science:

• Pediatric Neurology
• Genetics
• Developmental Disorders

Background:

• Moebius syndrome is a rare congenital neurological disorder characterized by facial nerve (VII) and abducens nerve (VI) palsy.
• Complex cases can involve additional cranial nerve deficits and systemic abnormalities, necessitating further classification and understanding.

Purpose of the Study:

• To describe a novel, severe variant of Moebius syndrome with extensive cranial nerve involvement and associated developmental anomalies.
• To propose the term "Moebius-plus syndrome" for this complex presentation.
• To emphasize the critical role of a multidisciplinary approach in managing such intricate pediatric neurological conditions.

Main Methods:

• Case report detailing clinical presentation, neurological examination findings, and diagnostic evaluations of a single pediatric patient.
• Review of relevant literature on Moebius syndrome and related disorders.

Main Results:

• The patient presented with severe Moebius syndrome involving cranial nerves VI, VII, VIII, IX, X, XI, and XII.
• Associated conditions included septo-optic dysplasia, severe hypopituitarism, and behavioral features consistent with autism spectrum disorder.
• This constellation of symptoms defines a distinct, severe phenotype, proposed as Moebius-plus syndrome.

Conclusions:

• The described case expands the phenotypic spectrum of Moebius syndrome.
• The term "Moebius-plus syndrome" is proposed for this severe variant.
• A holistic and multidisciplinary diagnostic and management strategy is crucial for optimizing outcomes in patients with complex neurological presentations.