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Giakoumettis D, Vogiatzoglou T, Vavoulis G, Almasarwah B, Tilidou K, Tsitlakidis A, Vlachos K. Klippel-Trenaunay syndrome and chiari I malformation. A case report and systematic review of the literature. BRAIN & SPINE 2024; 4:104149. [PMID: 39720769 PMCID: PMC11666893 DOI: 10.1016/j.bas.2024.104149] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 10/02/2024] [Revised: 11/22/2024] [Accepted: 11/25/2024] [Indexed: 12/26/2024]
Abstract
INTRODUCTION Klippel-Trenaunay Syndrome (KTS) is a rare congenital condition characterized by vascular malformations, bone abnormalities, and limb overgrowth. The genetic basis of KTS is not fully understood, and the diagnosis relies on clinical features. Its clinical spectrum includes several neurosurgical diagnoses, such as cavernous hemangiomas, arteriovenous fistulas, and Chiari I malformation. RESEARCH QUESTION This study investigates the neurological complications associated with KTS, focusing on its coexistence with Chiari I malformation and other neurosurgical entities, through a systematic review and a case report. METHODS MATERIALS A 27-year-old woman with KTS and Chiari I malformation presented with progressive tetraparesis and cranial nerve deficits. Emergency foramen magnum decompression had to be undertaken despite significant coagulation abnormalities. Despite her post-operative period being complicated by splenic rupture requiring splenectomy, she demonstrated gradual neurological recovery. RESULTS The patient presented with a significant neurological improvement at her 3-month follow-up, being able to walk independently with a stick. A systematic review of the Pubmed database identified 55 patients with KTS requiring neurosurgical attention. The most common pathology was vascular malformations, followed by CNS tumors, whereas Chiari malformation was rare. CONCLUSION The study highlights the challenges of managing patients with KTS and Chiari I malformation, emphasizing the importance of early diagnosis, through preoperative evaluation and interdisciplinary care. Emergency surgery in KTS patients with neurological deterioration, though high risk, can improve outcomes with careful coordination among neurosurgeons, hematologists, and internists. The rare association of Chiari I malformation with KTS underscores the need for vigilance and a tailored approach to care.
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Affiliation(s)
- D. Giakoumettis
- Neurosurgical Department, “KAT” General Hospital of Athens, Greece
| | - T. Vogiatzoglou
- Neurosurgical Department, “KAT” General Hospital of Athens, Greece
| | - G. Vavoulis
- Neurosurgical Department, “KAT” General Hospital of Athens, Greece
| | - B. Almasarwah
- Neurosurgical Department, “KAT” General Hospital of Athens, Greece
| | - K. Tilidou
- Hematological Department, “KAT” General Hospital of Athens, Greece
| | - A. Tsitlakidis
- Neurosurgical Department, “KAT” General Hospital of Athens, Greece
| | - K. Vlachos
- Neurosurgical Department, “KAT” General Hospital of Athens, Greece
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Peter MS, Gibu SG, Kizito MS. A rare case of a 5-year-old girl with Klippel-Trénaunay syndrome and a bleeding focal vulvar hemangioma in Uganda. Clin Case Rep 2024; 12:e9501. [PMID: 39440347 PMCID: PMC11494024 DOI: 10.1002/ccr3.9501] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2024] [Revised: 08/17/2024] [Accepted: 09/26/2024] [Indexed: 10/25/2024] Open
Abstract
Key Clinical Message Klippel-Trénaunay syndrome can present with atypical manifestations such as a bleeding vulvar hemangioma. This case report, the first documented in Uganda, highlights the need for awareness of such presentations and underscores the importance of continuous follow-up in female patients to manage potential complications throughout adolescence and pregnancy. Abstract Klippel-Trénaunay syndrome (KTS) is a rare congenital disorder marked by bone and soft tissue hypertrophy, port-wine stains, and varicosities. Cases involving genital hemangiomas are rare. This report highlights a 5-year-old girl in Uganda with typical KTS features, including hypertrophy and port-wine stains, along with a bleeding vulvar hemangioma, emphasizing its uncommon presentation and potential complications. Treatment involved compression bandaging and timolol 0.2% solution. This case underscores the importance of awareness of atypical manifestations of hemangiomas with KTS and continuous follow-up for female patients, especially through adolescence and pregnancy, due to potential complications such as prepubertal per vaginal bleeding, menorrhagia, and post-partum bleeding.
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Affiliation(s)
- Mundeli Simon Peter
- Department of DermatologyMbarara University of Science and Technology (MUST)MbararaUganda
| | - Sibali Gidimali Gibu
- Department of DermatologyMbarara University of Science and Technology (MUST)MbararaUganda
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Demir MK, Kılıc D, Zorlu E, Kılıc T. Giant Intracranial Cavernous Malformations: A Review on Magnetic Resonance Imaging Characteristics. Indian J Radiol Imaging 2024; 34:511-521. [PMID: 38912256 PMCID: PMC11188748 DOI: 10.1055/s-0044-1779587] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/25/2024] Open
Abstract
Background Intracranial cavernous malformations (CMs), commonly known as cavernomas or cavernous angiomas, are low-flow, well-circumscribed vascular lesions composed of sinusoidal spaces lined by a single layer of endothelium and separated by a collagenous matrix without elastin, smooth muscle, or other vascular wall elements. A diameter greater than 3 cm for a CM is unlikely. These lesions may have atypical appearances on magnetic resonance imaging (MRI). MRI with advanced techniques such as a susceptibility-weighted image or T2-gradient echo, a diffusion-weighted image and corresponding apparent diffusion coefficient map, and diffusion tensor tractography have revolutionized the diagnostic approach to these lesions. Materials and Method The present study reviews the etiopathogenesis, clinical manifestations, MRI strategy, and MRI appearances of the CMs, with a few examples of the giant CMs from our archive. Results Intracranial giant CMs may have unexpected locations, sizes, numbers, and varied imaging appearances due to repeated hemorrhages, unusual enhancement patterns, intense perifocal edema, and unusual associations, making the differential diagnosis difficult. Conclusion Familiarity with the MRI appearances of the giant intracranial CMs and the differential diagnosis improves diagnostic accuracy and patient management.
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Affiliation(s)
- Mustafa Kemal Demir
- Clinic of Radiology, Bahcesehir University Goztepe Medical Park Hospital, Istanbul, Turkey
| | - Deniz Kılıc
- Department of Neurosurgery, Bahcesehir University School of Medicine, Göztepe Medical Park Hospital, Istanbul, Turkey
| | - Emre Zorlu
- Department of Neurosurgery, Bahcesehir University School of Medicine, Göztepe Medical Park Hospital, Istanbul, Turkey
| | - Turker Kılıc
- Department of Neurosurgery, Bahcesehir University School of Medicine, Göztepe Medical Park Hospital, Istanbul, Turkey
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Wang L, Guo L, Song D. Lower extremity weakness in a case report of slow-flow vascular malformation with overgrowth. Asian J Surg 2023; 46:5023-5024. [PMID: 37419822 DOI: 10.1016/j.asjsur.2023.06.047] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/30/2023] [Accepted: 06/07/2023] [Indexed: 07/09/2023] Open
Affiliation(s)
- Liang Wang
- Department of Vascular Anomalies and Interventional Radiology, Children's Hospital Affiliated to Shandong University, Jinan, 250022, China; Department of Vascular Anomalies and Interventional Radiology, Jinan Children's Hospital, Jinan, 250022, China
| | - Lei Guo
- Department of Vascular Anomalies and Interventional Radiology, Children's Hospital Affiliated to Shandong University, Jinan, 250022, China; Department of Vascular Anomalies and Interventional Radiology, Jinan Children's Hospital, Jinan, 250022, China.
| | - Dan Song
- Department of Vascular Anomalies and Interventional Radiology, Children's Hospital Affiliated to Shandong University, Jinan, 250022, China; Department of Vascular Anomalies and Interventional Radiology, Jinan Children's Hospital, Jinan, 250022, China.
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Pavone P, Marino L, Cacciaguerra G, Di Nora A, Parano E, Musumeci G, Ruggieri M, Polizzi A, Falsaperla R. Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review. CHILDREN (BASEL, SWITZERLAND) 2023; 10:1421. [PMID: 37628420 PMCID: PMC10453504 DOI: 10.3390/children10081421] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/29/2023] [Revised: 08/07/2023] [Accepted: 08/18/2023] [Indexed: 08/27/2023]
Abstract
Klippel-Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel-Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.
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Affiliation(s)
- Piero Pavone
- Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy; (G.C.); (A.D.N.); (M.R.)
- National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, 95100 Catania, Italy;
| | - Lidia Marino
- Pediatrics and Pediatric Emergency Department, University Hospital, A.O.U. “Policlinico-Vittorio Emanuele”, 95100 Catania, Italy; (L.M.); (R.F.)
| | - Giovanni Cacciaguerra
- Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy; (G.C.); (A.D.N.); (M.R.)
| | - Alessandra Di Nora
- Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy; (G.C.); (A.D.N.); (M.R.)
| | - Enrico Parano
- National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, 95100 Catania, Italy;
| | - Giuseppe Musumeci
- Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, 95100 Catania, Italy
| | - Martino Ruggieri
- Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, 95100 Catania, Italy; (G.C.); (A.D.N.); (M.R.)
| | - Agata Polizzi
- Department of Educational Science, University of Catania, 95100 Catania, Italy;
| | - Raffaele Falsaperla
- Pediatrics and Pediatric Emergency Department, University Hospital, A.O.U. “Policlinico-Vittorio Emanuele”, 95100 Catania, Italy; (L.M.); (R.F.)
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Lee G, Choi T. Klippel-Trenaunay-Weber syndrome with ischemic stroke: A case report. World J Clin Cases 2022; 10:10543-10549. [PMID: 36312497 PMCID: PMC9602214 DOI: 10.12998/wjcc.v10.i29.10543] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/24/2021] [Revised: 12/13/2021] [Accepted: 08/31/2022] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Klippel-Trenaunay-Weber syndrome (KTWS) is a very rare syndrome that involves three conditions: Cutaneous hemangiomas, varicosities, and soft-tissue hypertrophy of the affected limb. There are few cases of ischemic infarction with KTWS. Here, we describe a case of KTWS with ischemic stroke.
CASE SUMMARY A 43-year-old man was diagnosed with KTWS with ischemic stroke. His chief complaints were worsening weakness and spasticity in the right leg. These symptoms had been present for 1 year, but the patient did not receive comprehensive rehabilitation until he underwent a 3-week integrated inpatient rehabilitation program at our center. After the program, his muscle strength, walking ability, and exercise endurance improved. Although relatively rare, clinicians should consider the possibility of a thromboembolic event in KTWS patients. Integrated rehabilitation can help such patients to recover function.
CONCLUSION In conclusion, although rare, patients with KTWS may experience central nervous system vascular malformations and accompanying stroke. It is necessary to investigate whether such patients have any neurological or comorbid abnormalities. Even in the subacute or chronic period after neurological insult, integrated rehabilitation programs can lead to structural and functional enhancement.
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Affiliation(s)
- Geunsu Lee
- Department of Rehabilitation Medicine, Kwangju Christian Hospital, Gwangju 61661, South Korea
| | - Taegi Choi
- Department of Rehabilitation Medicine, Kwangju Christian Hospital, Gwangju 61661, South Korea
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Larson AS, Brinjikji W, Anderson KR, Tollefson M, Michelle Silvera V, Guerin JB. Imaging of benign cervicofacial vascular anomalies and associated syndromes. Interv Neuroradiol 2021; 28:364-374. [PMID: 34397285 DOI: 10.1177/15910199211034989] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023] Open
Abstract
Cervicofacial vascular anomalies can result in morbidity, pain, and cosmetic concerns in affected individuals. Each anomaly has its own unique natural history, treatment, and associations with underlying genetic syndromes. For optimal patient care, it is important for the neuroradiologist to accurately recognize and characterize these entities to ensure appropriate treatment and management. In this review, we discuss the general characteristics, classifications, and imaging features associated with the most common vascular anomalies such as hemangiomas, arteriovenous malformations and fistulas, capillary malformations, venous malformations, and lymphatic malformations in the context of associated syndromes. Additionally, we discuss novel imaging techniques that aid in identifying these vascular anomalies.
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Affiliation(s)
| | - Waleed Brinjikji
- Department of Radiology, 6915Mayo Clinic, USA.,Department of Neurosurgery, 6915Mayo Clinic, USA
| | | | - Megha Tollefson
- Department of Dermatology, 6915Mayo Clinic, USA.,Department of Pediatric & Adolescent Medicine, 6915Mayo Clinic, USA
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Larson A, Covington T, Anderson K, Tollefson M, Lanzino G, Brinjikji W. Spinal Neurovascular Malformations in Klippel-Trenaunay Syndrome: A Single Center Study. Neurosurgery 2021; 88:515-522. [PMID: 33073841 DOI: 10.1093/neuros/nyaa457] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/15/2020] [Accepted: 08/08/2020] [Indexed: 01/19/2023] Open
Abstract
BACKGROUND A number of studies have demonstrated spinal anomalies associated with Klippel-Trenaunay syndrome (KTS). To date, there are no large consecutive series examining the prevalence and subtype distribution of spinal neurovascular malformations in patients with KTS. OBJECTIVE To report the spectrum and incidence of spinal neurovascular manifestations in the KTS population. METHODS This was a cross-sectional study. Consecutive patients with definite KTS as defined by International Society for the Study of Vascular Anomalies criteria who underwent spinal neuroimaging at our institution were included. All studies were evaluated by a staff neuroradiologist and a senior radiology resident for the presence of developmental venous anomalies, cavernous malformations (CMs), and arteriovenous shunts (AVS). RESULTS A total of 116 patients with definite KTS who underwent spinal neuroimaging were included. A total of 23 neurovascular anomalies were found in 19 patients (16.4%), including 4 patients with multiple anomalies. These included 5 patients with spinal cord CMs (4.3%), 14 patients with a paraspinal or epidural venous malformation (12.1%), and 4 patients with an AVS (3.4%). Of the AVS, 3 were epidural arteriovenous fistulas, 1 of which likely formed de novo in an epidural venous malformation. One was a conus medullaris arteriovenous malformation. CONCLUSION Our study cohort of 116 KTS patients demonstrated a wide spectrum of spinal neurovascular anomalies with a relatively high prevalence. Potential phenotypic descriptions of KTS should include the possibility for spinal neurovascular anomalies.
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Affiliation(s)
- Anthony Larson
- Department of Radiology, Mayo Clinic, Rochester, Minnesota
| | | | | | - Megha Tollefson
- Department of Dermatology, Mayo Clinic, Rochester, Minnesota
| | - Giuseppe Lanzino
- Department of Radiology, Mayo Clinic, Rochester, Minnesota.,Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota
| | - Waleed Brinjikji
- Department of Radiology, Mayo Clinic, Rochester, Minnesota.,Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota
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Intracranial and extracranial vascular manifestations of patients with a clinical diagnosis of Klippel-Trenaunay syndrome. Neuroradiology 2020; 63:409-415. [PMID: 33064164 DOI: 10.1007/s00234-020-02560-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/23/2020] [Accepted: 09/16/2020] [Indexed: 01/19/2023]
Abstract
BACKGROUND AND PURPOSE While numerous reports have demonstrated intracranial CNS anomalies associated with Klippel-Trenaunay syndrome, to our knowledge, there has not been a large consecutive study examining these anomalies. The aim of this study was to determine the spectrum of intracranial neurovascular manifestations in patients with a clinical diagnosis of Klippel-Tranaunay syndrome. METHODS Consecutive patients with a clinical diagnosis of Klippel-Trenaunay syndrome, as defined by the International Society for the Study of Vascular Anomalies, who underwent brain contrast-enhanced CT/computed tomography angiography, MRI/magnetic resonance angiography, or digital subtraction angiography at our institution from 2000 to 2019 were included. Studies were evaluated by a neuroradiologist and a senior radiology resident for the presence of cavernous malformations, developmental venous anomalies, venous sinus developmental abnormalities, craniofacial venous malformations, intraosseous venous malformations, and intracranial/extracranial venous abnormalities. RESULTS Fifty patients with definite KTS were included. Thirty-four neurovascular anomalies were found in 17 patients (34.0%), including 8 with multiple anomalies. Nine patients had developmental venous anomalies (18.0%), 7 had craniofacial venous malformations (14.0), 6 had venous sinus developmental abnormalities (12.0%), 7 had intraosseous venous malformations (14.0%), and 2 had cavernous malformations (4.0%), and 9 patients had both intracranial venous abnormalities and craniofacial or calvarial findings (13.0%). CONCLUSION Our findings demonstrate that Klippel-Trenaunay syndrome can involve a wide spectrum of intracranial neurovascular anomalies predominantly involving the venous system.
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Pérez-Alfayate R, Martínez-Moreno N, Rosati SD, Moreu-Gamazo M, Pérez-García C, Martínez-Alvarez R. Klippel-Trenaunay-Weber Syndrome Associated with Multiple Cerebral Arteriovenous Malformations: Usefulness of Gamma Knife Stereotactic Radiosurgery in This Syndrome. World Neurosurg 2020; 141:425-429. [PMID: 32534263 DOI: 10.1016/j.wneu.2020.06.012] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/12/2020] [Revised: 06/01/2020] [Accepted: 06/02/2020] [Indexed: 01/19/2023]
Abstract
BACKGROUND Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by the presence of a combined vascular malformation of capillaries, veins, and lymphatic vessels; congenital venous abnormalities; and limb hypertrophy. Its association with neurovascular abnormalities is infrequent, and the presence of intracranial arteriovenous malformations (AVMs) is extremely rare. CASE DESCRIPTION We report a case of a 48-year-old male diagnosed with KTWS who spontaneously presented with a cerebral hemorrhage. Computed tomography scan and angio-computed tomography studies revealed bleeding associated with AVM rupture. In the conventional arteriography study, 10 small (<1 cm) AVMs were observed. The patient presented a good clinical recovery. These multiple small lesions were not considered susceptible to surgical or endovascular treatments. Therefore all lesions were treated with Gamma Knife stereotactic radiosurgery since it attains the highest dose drop and minimal irradiation of the healthy parenchyma. One year after the treatment, the lesions have shrunk. CONCLUSIONS Cerebral AVMs are extremely rare in KTWS cases; however, their presence can have serious consequences if they are treated. We find it advisable to include brain imaging tests, such as nuclear magnetic resonance imaging, to diagnose and monitor KTWS. Furthermore, a Gamma Knife may be useful when multiple AVMs are present.
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Affiliation(s)
- Rebeca Pérez-Alfayate
- Neurosurgery Department, Neuroscience Institute, Hospital Clínico San Carlos, Madrid, Spain.
| | | | - Santiago Dario Rosati
- Interventional Neuroradiology Unit, Radiology Department, Hospital Clínico San Carlos, Madrid, Spain
| | - Manuel Moreu-Gamazo
- Interventional Neuroradiology Unit, Radiology Department, Hospital Clínico San Carlos, Madrid, Spain
| | - Carlos Pérez-García
- Interventional Neuroradiology Unit, Radiology Department, Hospital Clínico San Carlos, Madrid, Spain
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Saleem MA, Zahra NE, Hemani F, Jan Ali A, Gilani A. Cerebral Cavernous Angioma Associated with Klippel Trenaunay Syndrome Treated with Gamma Knife Radiosurgery: Case Report and Literature Review. Cureus 2019; 11:e4318. [PMID: 31183298 PMCID: PMC6538107 DOI: 10.7759/cureus.4318] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023] Open
Abstract
Klippel Trenaunay syndrome (KTS) is a rare, sporadic congenital syndrome characterized by cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. It is genetically heterogeneous, and its clinical presentation is variable. We report the case of a 13-year-old male with KTS, who presented with a cerebral cavernous angioma in the corpus callosum. To the best of our knowledge, this is the first reported case of its kind from Pakistan and the only known case in the literature of KTS to be treated with stereotactic radiosurgery. The possibilities of shared genetic pathways between KTS and cavernous angiomas and the need for neurovascular scrutiny in patients with this syndrome are discussed.
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Affiliation(s)
| | - Noor E Zahra
- Neurosurgery, Jinnah Postgraduate Medical Center, Karachi, PAK
| | - Fatima Hemani
- Neurosurgery, Jinnah Postgraduate Medical Center, Karachi, PAK
| | | | - Aamir Gilani
- Internal Medicine, Jinnah Postgraduate Medical Centre, Karachi, PAK
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Karadag A, Senoglu M, Sayhan S, Okromelidze L, Middlebrooks EH. Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review. World Neurosurg 2019; 126:354-358. [PMID: 30905648 DOI: 10.1016/j.wneu.2019.03.132] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/07/2019] [Revised: 03/12/2019] [Accepted: 03/13/2019] [Indexed: 01/19/2023]
Abstract
BACKGROUND Klippel-Trenaunay-Weber syndrome (KTWS) is a rare syndrome characterized by the triad of cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. Clinical manifestations, genetic testing, and radiologic imaging are the key steps in diagnosing this syndrome. CASE DESCRIPTION An 18-month-old boy was brought for follow-up brain magnetic resonance imaging (MRI) with a history of right lower limb hypertrophy, cutaneous varicosities, and hemangiomas diagnosed at birth. A baseline MRI at 12 months revealed multiple hemorrhagic lesions within the cerebrum, the largest in the right temporal lobe, which was treated surgically at the age of 18 months because of its rapid growth. This is the youngest patient with KTWS treated surgically for intracranial hemangiomas. CONCLUSION KTWS is a rare disease with a wide range of manifestations. Multisystemic evaluation of this group of patients should be performed to identify cavernous hemangiomas at the early stage of life and adequately treat them in the future. Treatment of KTWS patients with cavernous hemangiomas should not be different from the treatment of patients with any other hemangiomas, and surgical intervention should be considered on a case-to-case bases.
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Affiliation(s)
- Ali Karadag
- Department of Neurosurgery, Menemen State Hospital, Izmir, Turkey
| | - Mehmet Senoglu
- Department of Neurosurgery, Health Science University, Tepecik Research and Training Hospital, Izmir, Turkey.
| | - Sevil Sayhan
- Department of Pathology, Health Science University, Tepecik Research and Training Hospital, Izmir, Turkey
| | - Lela Okromelidze
- Department of Radiology, Mayo Clinic, Jacksonville, Florida, USA
| | - Erik H Middlebrooks
- Department of Radiology, Mayo Clinic, Jacksonville, Florida, USA; Department of Neurologic Surgery, Mayo Clinic, Jacksonville, Florida, USA
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