Constipation as an Atypical Sign of ARC Syndrome - Case Report.

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• Arthrogryposis-renal tubular dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder.
• Mutations in VPS33B, involved in intracellular trafficking, are linked to ARC syndrome.
• The condition displays significant clinical variability.

Purpose of the Study:

• To report a case of ARC syndrome with an unusual clinical presentation.
• To highlight the diagnostic challenges and variability of ARC syndrome.

Main Methods:

• Case report of an infant girl presenting with severe contractures, cholestatic jaundice, failure to thrive, acidosis, aminoaciduria, glucosuria, ichthyosis, and recurrent fever.
• Detailed clinical observation and management of the infant's symptoms, including persistent constipation.
• Autopsy findings were not available due to early death from sepsis.

Main Results:

• The infant exhibited severe contractures, cholestatic jaundice, failure to thrive, metabolic acidosis, aminoaciduria, glucosuria, ichthyosis, and recurrent fever.
• Constipation was a persistent and significant clinical sign throughout the infant's life.
• The infant succumbed to sepsis at 12 weeks of age.

Conclusions:

• ARC syndrome demonstrates considerable clinical variability.
• Constipation is an atypical presentation of ARC syndrome, contrasting with the more commonly reported diarrhea.
• Awareness of this rare condition and its varied manifestations is crucial for clinicians.