scholarly journals Craniorachischisis: first case reported in Madagascar

Author(s):  
Hary F. Rabarikoto ◽  
Patrick S. Rakotozanany ◽  
Rosa L. Tsifiregna ◽  
Willy Ratovondrainy ◽  
Domoina M. A. Randriambololona

Craniorachischisis is the most severe type of neural tube defect in which almost the entire brain and spinal cord remain open. We report a case in a female fetus born at gestational week 38, with both anencephaly and open spina bifida. It was the second pregnancy of a 26-year-old woman. The first pregnancy had to be interrupted by a medical termination at 18th gestational week because of an anencephaly. We aim to report the first case documented in Madagascar.

Neurosurgery ◽  
2007 ◽  
Vol 61 (6) ◽  
pp. E1336-E1337 ◽  
Author(s):  
Daina Kashiwazaki ◽  
Kazutoshi Hida ◽  
Shunsuke Yano ◽  
Toshitaka Seki ◽  
Yoshinobu Iwasaki

Abstract OBJECTIVE Hemangiopericytomas, vascular tumors arising in soft tissue, are relatively rare in the central nervous system; they comprise less than 1% of all hemangiopericytomas. Central nervous system hemangiopericytomas occur primarily in the epidural space of the brain and spinal cord. There are no previous reports of subpial, extramedullary growing central nervous system hemangiopericytomas. CLINICAL PRESENTATION We document the first case of a subpial hemangiopericytoma with extramedullary growth in the thoracic spine. The patient was a 31-year-old man who developed progressively worsening left lower limb numbness that was followed by gait disturbance over the course of 4 months. INTERVENTION Magnetic resonance imaging revealed an intradural tumor at the T4–T6 level of the thoracic spine. Because the patient's symptoms progressed, he underwent resection of the tumor, which had arisen in the spinal cord subpially without attachment to the dura mater. CONCLUSION The pathological diagnosis was hemangiopericytoma. Differential diagnoses include hemangioblastoma, meningioma, schwannoma, and solitary fibrous tumor, the clinical course and prognosis of which are different from hemangiopericytoma. Our experience indicates that hemangiopericytomas can occur as intradural tumors arising from the subpial portion.


2020 ◽  
Vol 13 (10) ◽  
pp. e235395
Author(s):  
Delia Roxana Ungureanu ◽  
Lucian George Zorila ◽  
Razvan Grigoras Capitanescu ◽  
Dominic Gabriel Iliescu

Our communication presents a prenatally detected case with severe spinal defect detected in the first trimester of pregnancy, accompanied by a large skin-covered myelomeningocele but normal cranio-cerebral structural appearance.These findings suggest that in the first trimester, the extent of the spinal defect, the cerebrospinal fluid leakage to a large, but skin-covered, meningocele and fixation of the spinal cord at the lesion are not sufficient to determine downward hindbrain displacement and the development of secondary signs for open spina bifida.Therefore, we suggest a careful evaluation of the fetal cerebral features if a meningocele is detected. The presence of the skin covering the lesion may not be evident in the first trimester, but the absence of intracranial open spina bifida markers may indicate a ‘closed’ spinal defect, which generally associates a good neurological outcome. Also, studies aimed to investigate the accuracy of the intracranial features for open spina bifida detection should consider the possibility of ‘closed’ myelomeningoceles to avoid incorrect correlations.


2021 ◽  
Author(s):  
Mohammad Hossein Khosravi ◽  
Bita Najafian

The prevalence of Congenital central nervous system (CNS) anomalies, including those of the brain and spinal cord, is 3 to 6% in stillbirth and 0.14 to 0.16% in live births. Holoprosencephaly, spina bifida, anencephaly, and encephalocele are major neural tube defects (NTD) encountered in clinical practice. Proper management and diagnosis of these conditions mandate a good understanding of their etiology and classification. Research is being conducted to investigate the etiopathogenesis and treatment of these anomalies. In this chapter, we have reviewed the clinical and pathological aspects of the major NTDs and the latest principles of their management.


2019 ◽  
Vol 5 (4) ◽  
pp. 1-3
Author(s):  
Amy M Wix ◽  

Life experience is what makes us who we are. I started my career in academia as a fieldwork coordinator in fall 2013, so I learned quickly that securing traditional fieldwork sites can be difficult. I am certainly a fan of faculty led fieldwork and have used this approach. In spring 2017, I was excited to find out that I was expecting my first baby however in the summer of 2017, at the 20-week anatomy ultrasound, my excitement turned to tears as we found out our baby had a Neural Tube Defect (NTD) and the most severe type of spina bifida (myelomeningocele). I was then introduced as to what I call the “spina bifida underworld” private pages for moms who were considering fetal surgery, moms who had fetal surgery, moms who had post-natal repair, pages called united by spina bifida, blogs from various individuals with spina bifida etc., I have personally found these pages to be a wealth of knowledge and have made many friends in unexpected places.


2000 ◽  
Vol 93 (1) ◽  
pp. 133-136 ◽  
Author(s):  
Yukihiro Wakabayashi ◽  
Mitsuo Isono ◽  
Tsuyoshi Shimomura ◽  
Atushi Tajima ◽  
Hiroto Terashi ◽  
...  

✓ The authors report the rare case of a patient with neurocutaneous vascular hamartomas mimicking Cobb syndrome. An 8-year-old boy was admitted to the authors' hospital with progressive urinary disturbance and upper back pain. Multiple skin nevi had been noted at the child's birth. Radiological examination revealed multiple cavernous angiomas in the spinal cord in the same metamere in which the skin nevi had been observed and also in the left cerebral hemisphere. His symptoms gradually improved without surgical intervention. Four years later he was readmitted because of a cerebral hemorrhage involving the left cerebral peduncle. Nonsurgical treatment was chosen because his symptoms promptly improved. To the best of the authors' knowledge, this is the first case of multiple cavernous angiomas in the brain and spinal cord associated with skin nevi. The authors discuss this clinical entity and the significance of the disease.


2021 ◽  
Author(s):  
René Opšenák ◽  
Romana Richterová ◽  
Branislav Kolarovszki

The spina bifida is a congenital anomaly that results in an abnormal formation of the spine and the spinal cord. The two dominant types of spinal dysraphism are based on appearance - open spina bifida if the lesion is visible and closed spina bifida if the lesion is not visible on the body surface. These conditions lead to a different spectrum of neurological effects according to the degree of neurulation disruption. The prevalence of neural tube defects has different rates among different ethnicity, geography, gender, and countries. Genetic, nutritional and environmental factors play a role in the etiology and pathogenesis of the spina bifida. Congenital anomalies in the vast majority concern children living in the early neonatal period who have important medical, social or educational needs. The lifetime cost of a child born with the spina bifida is estimated at over €500,000.


2017 ◽  
Vol 108 ◽  
pp. 988.e1-988.e5 ◽  
Author(s):  
Juanita Garces ◽  
Mansour Mathkour ◽  
Tyler Scullen ◽  
Lora Kahn ◽  
Erin Biro ◽  
...  

Author(s):  
Kathryn L. Lovell ◽  
Margaret Z. Jones

Caprine β-mannosidosis, an autosomal recessive defect of glycoprotein catabolism, is associated with a deficiency of tissue and plasma -mannosidase and with tissue accumulation and urinary excretion of oligosaccharides, including the trisaccharide Man(β1-4)GlcNAc(βl-4)GlcNAc and the disaccharide Man(β1-4)GlcNAc. This genetic disorder is evident at birth, with severe neurological deficits including a marked intention tremor, pendular nystagmus, ataxia and inability to stand. Major pathological characteristics described in Nubian goats in Michigan and in Anglo-Nubian goats in New South Wales include widespread cytoplasmic vacuolation in the nervous system and viscera, axonal spheroids, and severe myelin paucity in the brain but not spinal cord or peripheral nerves. Light microscopic examination revealed marked regional variation in the severity of central nervous system myelin deficits, with some brain areas showing nearly complete absence of myelin and other regions characterized by the presence of 25-50% of the control number of myelin sheaths.


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