Overview
Multisystemic disseminated toxoplasmosis is not directly addressed in the provided abstracts. The abstracts focus on a genetic disorder involving a homozygous variant in MADD, which leads to a multisystemic disorder with manifestations similar to toxoplasmosis but due to Rab protein dysfunction rather than parasitic infection.Diagnosis
Genetic Testing: Exome sequencing to identify homozygous variants in MADD (c.2816 + 1 G > A) 1.
Clinical Presentation: Failure to thrive (FTT), chronic diarrhea, neonatal respiratory distress, pituitary dysfunction, and arthrogryposis 1.Management
Supportive Care: Address symptoms such as respiratory support for distress, nutritional support for FTT, and management of chronic diarrhea 1.
Genetic Counseling: Essential for families with consanguinity to understand recurrence risks 1.Special Populations
Pediatrics: Early recognition and supportive care are critical due to infantile-lethal nature of the syndrome 1.Key Recommendations
Genetic Testing for MADD Variants in consanguineous families presenting with multisystemic symptoms (Evidence: Expert opinion) 1.
Implement Comprehensive Supportive Care addressing multiple organ systems affected (Evidence: Expert opinion) 1.
Provide Genetic Counseling to families to manage expectations and understand recurrence risks (Evidence: Expert opinion) 1.References
1 Abu-Libdeh B, Mor-Shaked H, Atawna AA, Gillis D, Halstuk O, Shaul-Lotan N et al.. Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder. European journal of human genetics : EJHG 2021. link