Congenital cholinergic nervous system dysfunction in identical twins

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• G syndrome is a rare genetic disorder characterized by specific craniofacial abnormalities and other developmental issues.
• Autonomic nervous system (ANS) dysfunction can manifest in various ways, including gastrointestinal, ocular, and sudomotor problems.
• Secretory diarrhea and swallowing disorders in infants warrant thorough investigation into potential underlying neurological causes.

Observation:

• Identical male twins presented with a complex phenotype including secretory diarrhea, craniofacial abnormalities suggestive of G syndrome, and hypospadias.
• Both twins exhibited significant abnormalities of the cholinergic nervous system, evidenced by achalasia, decreased tearing, corneal hypesthesia, positive Mecholyl tests, and reduced sweating.
• Absence of fungiform papillae was noted, differentiating the condition from Riley-Day syndrome and acquired autonomic dysfunction.

Findings:

• The presented cases represent a unique constellation of symptoms potentially indicative of a novel genetic or syndromic presentation.
• Cholinergic nervous system dysfunction was a prominent feature, impacting multiple organ systems.
• Clinical presentation differed from established syndromes like Riley-Day syndrome, suggesting a distinct etiology.

Implications:

• Early assessment of autonomic nervous system function is crucial for infants with recurrent diarrhea, swallowing difficulties, or features suggestive of G syndrome.
• This case underscores the phenotypic variability within genetic syndromes and the importance of comprehensive diagnostic evaluations.
• Further research into the genetic and neurological underpinnings of this condition is warranted to improve diagnosis and management.