vascular malformation
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2022 ◽  
Vol 13 ◽  
pp. 6
Author(s):  
Michel Gustavo Mondragon-Soto ◽  
Lior Elkaim ◽  
Alexander G. Weil

Background: Ventriculoperitoneal shunt (VPS), the mainstay of the treatment for hydrocephalus, is associated with relatively high revision rates. Transient hydrocephalus due to intermittent VPS obstruction should be recognized as a cause of VPS malfunction. While transient VPS dysfunction is well-recognized complication, there is a relative paucity of well-documented cases in the literature. Case Description: We present the case of a 4-year-old boy with a history of vascular malformation and hydrocephalus secondary to intraventricular hemorrhage. The patient presented with transient, self-resolving hydrocephalus (without intervention), as documented by clinical and radiological findings. Conclusion: Transient hydrocephalus due to intermittent VPS dysfunction in children is a rare entity, but it should be suspected in certain patients with VPS presenting with transient or self-improving symptoms.


2022 ◽  
Vol 3 (1) ◽  

BACKGROUND Klippel-Trénaunay syndrome (KTS) is a combined capillary-lymphatic-venous malformation disorder traditionally associated with high surgical morbidity. Although rare, pathologic involvement of the spinal cord has been reported in the literature. However, the safety of surgical intervention remains unclear. We report a case of successful decompression of a thoracic epidural lesion in an individual with KTS who presented with spastic paraparesis. OBSERVATIONS The patient is a 38-year-old male, diagnosed with KTS as an infant, who presented with spastic paraparesis secondary to a thoracic epidural lesion. He underwent laminectomies and resection of the lesion with subsequent improvement of his symptoms and without significant postoperative morbidity. Histopathology confirmed the lesion to be a benign vascular malformation. LESSONS Currently, the literature regarding management of symptomatic vascular lesions in individuals with KTS supports nonoperative management, due to the increased risk of operative morbidity associated with this syndrome. This case presents evidence for safe and appropriate surgical management of a thoracic epidural vascular malformation in a patient with KTS in the setting of progressive neurological decline, establishing a role for neurosurgical intervention in this high-risk population when no conservative management portends further neurological deterioration.


2022 ◽  
Vol 3 (1) ◽  
pp. 100061
Author(s):  
Nelson Ugwu ◽  
Lihi Atzmony ◽  
Katharine T. Ellis ◽  
Gauri Panse ◽  
Dhanpat Jain ◽  
...  

2021 ◽  
pp. 802-806
Author(s):  
Mónica Santos ◽  
Sofia Reimão ◽  
Mamede de Carvalho

A number of conditions can mimic amyotrophic lateral sclerosis (ALS), which are in general excluded by neurophysiological and neuroimaging investigation. We present a novel mimicking disorder. A 58-year-old male, without relevant past medical history, presented with a 7-year history of progressive paraparesis. On examination, he had bilateral thigh atrophy, fasciculations, and asymmetric paraparesis (severe on the left side). Upper motor neuron signs were present in the lower limbs, with normal sensory examination. Needle EMG disclosed mild chronic neurogenic changes in the lower limbs. Brain and spinal cord neuroimaging was normal, namely, in the dorso-lumbar segment. Lumbar puncture showed mild hyperproteinorachia. Diagnosis of slowly progressive (possible) ALS was established. One year later, he required a bilateral support to walk, and neurological examination revealed weak tendon reflexes, abnormal pinprick, and proprioceptive sensation in the legs. Repeated lumbar MRI showed an extensive spinal cord oedema from T7 to the conus with multiple perimedullary vessel flow voids suggestive of a vascular malformation. Conventional angiography revealed a spinal dural arteriovenous fistula in L2–L3 with the left L4 lumbar branch as the afferent artery. Dural arteriovenous fistula is the most common vascular malformation of the spinal cord, despite being rare. It leads to arterialization of spinal veins, causing venous hypertension, spinal cord oedema, and ischaemia. The clinical picture includes a stepwise, sometimes fluctuant, myeloradiculopathy. In this case, EMG changes did not meet Awaji criteria. This case reinforces the need to critically follow atypical cases to ascertain clinical progression in patients with suspected ALS.


Author(s):  
Natalia V. Zhurkova ◽  
Nato D. Vashakmadze ◽  
Natella V. Suhanova ◽  
Grigorii V. Revunenekov ◽  
Olga B. Gordeeva ◽  
...  

Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name. This disease occurs with hemorrhagic syndrome, oculocutaneous albinism, and inflammatory bowel diseases (in some cases). The clinical picture of the disease, including the gastrointestinal tract pathology, has not been studied completely due to the syndrome rarity.Clinical case description. We would like to present the description of clinical case of the patient with Hermansky–Pudlak syndrome type 6 accompanied with bowel vascular malformation. The patient diagnosed with “oculocutaneous albinism” at the age of 4.5 has shown recurrent intestinal bleedings, blood hemoglobin concentration decrease to 45 g/l; platelet count, mean platelet volume and platelet distribution width remained within the reference values. Slight decrease of Quick’s value to 68% (normal range 70–120%) was revealed. The study of platelet morphology has revealed a decrease in the number of dense granules: < 3 in 25% platelets, < 6 — in 64%. Ultrasound investigation has revealed signs of vascular malformation in ascending colon: significant changes of diameter (widening) and shape of intestinal wall vessels. Molecular genetic analysis (NGS) has revealed the nucleotide variant c.1133T>G (p.Leu378Arg) in homozygous state in the HPS6 gene. The same variant in homozygous state was revealed in the younger proband sister who also had vascular changes in the ascending colon wall.Conclusion. Differential diagnosis of Germanic–Pudlak syndrome type 6 should be performed with other types of this syndrome as well as with syndrome and non-syndrome forms of oculocutaneous albinism. Molecular genetic confirmation of the diagnosis is suggested via massive parallel sequencing (NGS) methods (exome sequencing included) due to the rarity of Hermansky–Pudlak syndrome.


2021 ◽  
Vol 72 (6) ◽  
pp. 310-320
Author(s):  
Junko Tsuda ◽  
Makoto Hashimoto ◽  
Yoshinobu Hirose ◽  
Yosuke Takemoto ◽  
Hiroshi Yamashita

2021 ◽  
Author(s):  
Victor Martinez‐Glez ◽  
Lara Rodriguez‐Laguna ◽  
Vanesa Viana‐Huete ◽  
Carolina García Torrijos ◽  
Begoña Hurtado ◽  
...  

Author(s):  
Chitturi Venkata Sai Akhil ◽  
Sarika Bhimrao Gaikwad ◽  
V. V. S. S. Sagar

Vascular anomalies are one of the challenging diseases to manage, presenting in different age groups and with varied clinical course, of which hemangiomas are common which are vasoproliferative neoplasms and can occur in any organ. Depending on the age at presentation they are classified as congenital and infantile hemangiomas. Not much attention has been paid regarding the imaging and treatment modalities of vascular malformations particularly hemangiomas due to scarcity of literature related to this condition. Majority of these vascular malformations are self-limiting, but in a few cases these lesions may grow with age which can be treated surgically or by sclerotherapy which has been the safe, less invasive, economical and easily available modality for treating hemangiomas. Bleomycin is the main sclerosing agent used which is a cytotoxic anti-tumor antibiotic which was later found to have anti-cancer properties. In our case, a 9 year old male child presented to our institution with a lump in the left side of abdomen since birth. Contrast enhanced CT abdomens was suggestive of  a vascular malformation. Patient was treated with sclerotherapy with intralesional bleomycin for which good results were noted by decrease in the size and vascularity of the swelling.


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