Sacral agenesis
نویسنده
چکیده
The author reviews the clinical and pathological features of sacral agenesis, with emphasis on the resulting neurologic deficits and the association in many cases with maternal diabetes mellitus. The demonstrated wide spectrum genetic defects are reviewed in the context of molecular genetic regulation of ontogenesis of bony and neural spinal structures. Differential diagnosis from meningomyelocele, diastematomyelia, and congenital sacrococcygeal teratoma, an association with more extensive congenital anomalies, and management of the neurologic complications are discussed. The most serious complications are lack of bowel and bladder control due to anorectal atresia and flaccid neurogenic urinary bladder. The autosomal-dominant Currarino triad of sacral dysgenesis, anorectal malformations, and anterior meningocele is discussed, as well as caudal regression syndrome or syringomyelia.
منابع مشابه
Pediatric Surgery Sacral Agenesis Sacral agenesis belongs to spectrum of aplastic vertebral malformations ranging from agenesis of coccyx to lower thoracic vertebrae and the term sacral agenesis
Sacral agenesis belongs to spectrum of aplastic vertebral malformations ranging from agenesis of coccyx to lower thoracic vertebrae and the term sacral agenesis has been used synonymously with caudal regression syndrome. Higher the defect, severe is the neurological deficit. Mangeau and Leclaire described a patient with ninth thoracic vertebra as the lowest segment(l). Sacral agenesis is more c...
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A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral age...
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A rare case of recurrent meningitis due to congenital anterior sacral meningocele and agenesis of the sacral and coccygeal vertebrae is described. An autosomal dominant inheritance is demonstrated for lower cord malformation, and environmental factors (chromic acid or fumes) are discussed.
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We report a case of a girl with complete sacral agenesis associated with arthrogrypotic-like deformity. This case demonstrates that a posterior knee release and braces following operation are effective treatment for knee-flexion contractures. Accordingly it is suggested that a supracondylar osteotomy is not required for mild or moderate recurrence of knee-flexion contractures.
متن کامل[Radiological findings in Currarino syndrome].
OBJECTIVE To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and anal-rectal anomalies), and to familiarise the radiologist with this condition that, although uncommon, could be suspected by its characteristic images. MATERIAL AND METHODS A study was made of 8 out of 9 family members (the parents...
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