Kousseff syndrome

Kousseff syndrome is an extremely rare congenital disorder characterized by the combination of sacral meningocele (a type of neural tube defect affecting the lower spine) and conotruncal heart defects (malformations involving the outflow tracts of the heart, such as tetralogy of Fallot, truncus arteriosus, or transposition of the great arteries). The condition was first described by Boris Kousseff in 1984. Affected individuals present at birth with features that overlap significantly with those seen in velocardiofacial syndrome (22q11.2 deletion syndrome), including facial dysmorphism and cardiac anomalies, but the presence of a sacral neural tube defect is a distinguishing feature. The key body systems affected include the cardiovascular system (conotruncal cardiac malformations), the central nervous system and spine (sacral meningocele or other caudal neural tube defects), and craniofacial structures. Facial features may include a broad nasal bridge, micrognathia, and other dysmorphic characteristics. Some patients may also exhibit developmental delay, genitourinary anomalies, and other midline defects. The relationship between Kousseff syndrome and 22q11.2 deletion syndrome has been debated in the literature, with some authors suggesting that Kousseff syndrome may represent a variant within the spectrum of 22q11.2-related disorders, while others consider it a distinct entity. Treatment is symptomatic and supportive, focusing on surgical correction of cardiac defects and management of the neural tube defect. Neurosurgical intervention may be required for the sacral meningocele, and cardiac surgery is typically necessary to address the conotruncal heart malformations. Long-term follow-up with a multidisciplinary team including cardiology, neurosurgery, genetics, and developmental pediatrics is recommended. There is no cure for the underlying condition, and prognosis depends largely on the severity of the cardiac and neurological involvement.

Common questions about Kousseff syndrome