Caudal Regression Syndrome, the rare disease suffered by Ghanim Al Mufath, the man with no legs who has appeared at the inauguration ceremony of the Soccer World Cup Qatar 2022was described by Duhamel in 1961.
It is a congenital malformation associated with visceral anomalies with different degrees of involvement. The anomalies, as explained by the Institut Català del Peu website, are musculoskeletal, gastrointestinal, neurological, genitourinary and cardiac.
Musculoskeletal anomalies affect the pelvis, lumbosacral spine and lower extremities, the most frequent being sacral agenesis, absence of lumbar or thoracic vertebrae, sirenomelia (fusion of the lower extremities), imperforate anus, cleft palate and neural tube defects. , incontinence and motor deficits.
The etiology of caudal regression syndrome is not completely determined, but the causes that seem most reliable are pre-gestational diabetes mellitus with poor metabolic control, vascular hypoperfusion or a genetic predisposition by defect in the induction of caudal elements of the embryo prior to the seventh week of gestation.
The caudal regression syndrome ranges from asymptomatic coccygenous aplasia to the absence of sacral, lumbar or thoracic vertebrae. Most cases affect only the sacrum, which is why sacral agenesis has been called caudal agenesis or caudal regression.
The prognosis of patients affected by caudal regression syndrome is conditioned by the location and degree of spinal cord injury as well as associated anomalies. The greater the involvement of the spine, the greater the associated anomalies and the risk of perinatal death.
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