Introduction: Cloacal exstrophy is a rare congenital disease with severe involvement of different systems, such as the gastrointestinal, genitourinary, and central nervous system. Although spinal dysraphisms are often associated, the literature highlights the treatment of genital and urinary malformations. Thus, it is important to discuss the possible neurological presentations and its management. We report a case of cloacal exstrophy focusing on the neurological aspects of the disease.
Methods: CASE PRESENTATION
Two months old infant, male, with a prenatal diagnosis of gastroschisis. After birth, bladder exstrophy, omphalocele and imperforate anus were identified, and patient diagnosed as cloacal exstrophy. Dorsal ultrasound was suggestive of cystic formation in the lower aspect of the cauda equina, and he was referred to the neurosurgeon.
Upon examination, baby was alert, active, mobilizing the limbs spontaneously, preserved anal cutaneous reflex.
Spine MRI showed dysraphism of the sacral vertebrae and intradural lipomas, one at the level of L2 and L3 and another extending from S1 to S3.
Results: In addition to abdominal malformations, spinal dysraphism is frequent in cloacal exstrophy patients, presenting especially as lipomyelomeningocele.
The neurological presentation is extremely important and considered as a key factor, when deciding between a conservative or surgical treatment. Among the neurological findings are paresis, spasms, sensory alterations and limb deformities.
The literature suggests a prophylactic surgical approach in cases with early diagnosis and, in older children, conservative management until there is deterioration of neurological function.
Conclusions: Although cloacal exstrophy is a rare disease, neurological malformations are very prevalent and should be investigated in order to prevent the progression of deficits.
Early diagnosis, as well as knowledge of the main neurological presentations, helps the neurosurgical treatment of its patients. Thus, not only the survival can be extended, but also the offer of a better quality of life.
Patient Care: By emphasizing the importance of proper care of patients with cloacal exstrophy
Learning Objectives: Highlight the neurological findings of the cloacla exstrophy, as well discuss the surgical management.