Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Area of Science:

• Genetics and Pediatrics
• Congenital Syndromes
• Rare Diseases

Background:

• Thrombocytopenia with absent radii (TAR) syndrome is a rare autosomal recessive disorder.
• It is characterized by low platelet counts and bilateral absence of the radii.
• Associated anomalies in skeletal, cardiac, renal, or gastrointestinal systems are common.

Observation:

• A case report of an African American infant diagnosed with TAR syndrome.
• The infant presented with grade 5 vesicoureteral reflux and moderate right hydronephrosis.
• A cow's milk protein allergy was also identified in the infant.

Findings:

• This case demonstrates a unique presentation of TAR syndrome.
• The co-occurrence of severe kidney abnormalities (vesicoureteral reflux and hydronephrosis) and food allergy is notable.
• Highlights the multi-systemic nature of TAR syndrome.

Implications:

• Emphasizes the importance of comprehensive screening for associated anomalies in TAR syndrome patients.
• Early diagnosis and management of renal complications are crucial for patient outcomes.
• Awareness of potential gastrointestinal issues like milk protein allergy is important for holistic patient care.