Type I congenital multiple intraspinal extradural cysts associated with distichiasis and lymphedema syndrome

ObjectiveThe hereditary syndrome of multiple congenital intraspinal cysts associated with distichiasis, lymphedema and other congenital deformities is extremely rare. Modern imaging techniques have promoted the non-invasive diagnosis of spinal pathology and paved the way for better surgical planning. We reviewed the clinical data, imaging studies and treatment outcomes of a 12-year-old boy with this syndrome.Clinical PresentationProgressive spastic paraparesis with signs of spinal cord compression leading to frequent falls. This was associated with bilateral double row of eyelashes and pretibial edema. The MRI of thoracic spine depicted two large elongated extradural lesions extending from D5-D10 with signal intensity compatible with cerebrospinal fluid leading to severe compression of the spinal cord dorsally.TreatmentLaminotomy and complete microsurgical excision of the cysts resulted in a fast and full clinical recovery of his neurological deficit.ConclusionType I congenital intraspinal cysts is a rare etiology of cord compression syndrome and may be associated with distichiasis, lymphedema and other congenital deformaties. It has several characteristics, which include the higher incidence in thoracic spine and younger age group, disproportional sever motor deficit as compared with sensory disturbances and the excellent clinical recovery following successful surgical treatment.