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Achiasma and Kapur-Toriello syndrome: Two rare entities.

ABSTRACT: Purpose:Describe a unique case of achiasma in a patient with Kapur-Toriello syndrome. Observations:We provide a brief review of achiasma with common findings on examination and imaging studies, and a published classification system. In addition, consistent with the rare Kapur-Toriello syndrome, he had a right unilateral cleft lip and palate, neurologic abnormality in his achiasma, anal atresia, vesicoureteral reflux, hypospadias, and growth deficiency. Conclusions:and Importance: Achiasma is an incredibly rare neurological deficit and we present the first case of achiasma in Kapur-Toriello syndrome.

SUBMITTER: Justin GA

PROVIDER: S-EPMC6581986 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Achiasma and Kapur-Toriello syndrome: Two rare entities.

Justin Grant A GA Earley Keith E KE Peacock Justin G JG Grant Aaron D AD

American journal of ophthalmology case reports 20190605

<h4>Purpose</h4>Describe a unique case of achiasma in a patient with Kapur-Toriello syndrome.<h4>Observations</h4>We provide a brief review of achiasma with common findings on examination and imaging studies, and a published classification system. In addition, consistent with the rare Kapur-Toriello syndrome, he had a right unilateral cleft lip and palate, neurologic abnormality in his achiasma, anal atresia, vesicoureteral reflux, hypospadias, and growth deficiency.<h4>Conclusions</h4>and Impor ...[more]

PMID: 31245653

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Project description:IntroductionIntervertebral discs are part of the vertebral column and are considered the pads that help in cushioning and flexibility. These discs consist of nucleus pulposus, annulus fibrosus, and cartilage end plate and their major functions include spinal motion and loading. However, they are prone to numerous pathologies such as intradiscal hematoma and discal cyst formation that may significantly alter the biomechanics of the spine and hence the quality of life of the patient. This case report aims to shed light on these rare pathologies.Case presentationThe following is a report on two cases demonstrating the difficulties in managing patients with intradiscal hematoma and discal cysts. Both cases are non-traumatic. The first case includes a 23-year-old male patient with right-sided lumbosacral pain unresponsive to conservative measures diagnosed with intradiscal hematoma using MRI. The second case concerns a 21-year-old male with left lumbar cruralgia following a motor vehicle accident. Conservative management at the onset helped to give a short time relief and when it relapsed it led to the diagnosis of an extradural compressive cyst that called for surgery.DiscussionAn intradiscal hematoma provokes severe pain increasing with intraspinal pressure. Discal cysts, which are more frequent in young people, most likely manifest clinical signs of disc herniations. The pathophysiological theories may include the presence of hematomas or a gradual degenerative process due to mechanical stress. An MRI scan is essential for correct diagnosis and developing a proper treatment strategy for both diseases. The management of the condition includes medical treatment, physical therapy, injections, and surgical procedures for chronic cases.ConclusionThe diagnosis and management of intervertebral disc pathology is quite challenging. The first case presents the deficiency of minimizing conservative approach in the management of intradiscal hematomas while the second case demonstrates the propensity for symptom reappearance in discal cysts and therefore the effectiveness of surgical management. MRI and other forms of imaging are vital in the diagnosis of the disease and in planning treatment. Science has embarked on the exploration of the exact causes of these diseases to enhance the lives of patients and the efficiency of the management of such illnesses.

Dataset Information

Achiasma and Kapur-Toriello syndrome: Two rare entities.

Publications

Achiasma and Kapur-Toriello syndrome: Two rare entities.

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