Cobb Syndrome Research Articles

Cobb Syndrome, A Rare Disease – Case Report

Cobb syndrome is a rare genetic disorder characterized by dermatomal pattern, with corresponding muscular, osseous, paraspinal, and/or spinal vascular lesions occurring at the same body somite (metamere). It is also known as spinal arteriovenous metameric syndrome (SAMS) and cutaneous meningospinal angiomatosis. We present a case of a 36 years old male presented to OPD with Complain of progressive weakness of Right upper limb for 5 years. On examination, Patient had large cutaneous port wine stain on the right side of the chest, nape of neck, and along the whole right upper limb in a dermatomal distribution with ulnar claw hand wasting of thenar muscles on right side. MRI cervical spine with contrast showed aggressive vertebral hemangioma involving anterior and posterior arch of C1 vertebra, vertebral body of C2 to C5, right half of vertebral body of C2 and C6 and right pedicle of C2 to C5 vertebra. Abnormal thickened and T2WI /STIR hyperintense skin and subcutaneous tissue involving right half of scalp and right half of neck which showing post contrast enhancement, possibility of subcutaneous hemangioma. Cobb syndrome was diagnosed based on the dermatomal distribution of the cutaneous vascular lesions and the corresponding vertebral, epidural, and paraspinal vascular lesions occurring at the same metamere. Treatment decision is guided by the patient’s symptoms and imaging features.

Cobb Syndrome Associated with Spinal Cavernoma – Case Report

AbstractCobb syndrome, or cutaneomeningospinal angiomatosis, is a rare condition that affects young adults, and its etiology has not been completely elucidated. It is characterized by a cutaneous sign, or stigma, associated with spinal or intracranial malformations. The symptoms are quite diverse, but, in most cases, the disease presents motor deficit and pain. The present study reports the case of a 48-year-old female patient, who initially sought dermatological medical care for a single skin lesion in the posterior cervical region. During the excision, it was noticed that the lesion had contiguous behavior to the deep anatomical planes, thus requiring the evaluation of the neurosurgical team. The purpose of this report is to describe this rare disease, covering more details about diagnosis and therapy.

Malignancy-related Hypercalcemia Caused by Metameric Cutaneous Metastasis of Parathyroid Hormone-related Protein-producing Bladder Carcinoma with Squamous Cell Differentiation: An Autopsy Case of Cobb Syndrome.

A 74-year-old woman was admitted with hypercalcemia and prolonged disturbance of consciousness. The left buttock to the anterior aspect of the left thigh was swollen and erythematous, with a collection of 1.0-cm large, firm, elastic nodules distributed in a zosteriform pattern in the L1-L4 region. Based on autopsy findings, a very rare case of Cobb syndrome was diagnosed due to a spinal vascular malformation at the Th12-L4 level and L5 vertebral hemangioma. Cobb syndrome-associated cutaneous metastasis extending along the same metamere was complicated by immunohistochemically proven parathyroid hormone-related protein-producing advanced bladder carcinoma in this case.

Vascular and Neurogenic-Cobb Syndrome

Cobb syndrome is an exceptional, non-inherited, genetic disorder characteristically constituted by vascular anomalies and neurological deficits. Spinal arteriovenous malformations appear in concurrence with cutaneous vascular lesions within the corresponding dermatome. Dermatome specific port wine stain upon the trunk, arteriovenous malformation, angioma, angiokeratoma, angiolipoma, cavernous haemangioma or lymphatic malformation is discerned in accompaniment with hyperreflexia, limb paresis, muscular cramps, sensory loss, bladder and bowel dysfunction, sudden paraplegia or subarachnoid haemorrhage. Spinal vascular lesions of Cobb syndrome can be adequately determined with magnetic resonance imaging (MRI), computerized tomography (CT) scan, plain radiography or angiography. Cobb syndrome can be appropriately managed with sclerotherapy, endovascular embolization, oral corticosteroids or surgical extermination of vascular lesions.

Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review

Cutaneous vertebral medullary angiomatosis, also known as Cobb syndrome, is a rare segmental neurocutaneous syndrome. This syndrome is considered to be a non-hereditary congenital disease that is usually associated with arteriovenous malformations in the skin and spine. The clinical manifestations are complex because the lesions can involve the spine, spinal cord, skin, and even the viscera. Here, we present the case of a 10-year-old girl who was admitted to hospital due to headache with two episodes of convulsions. Previous examination at another hospital found no evidence of any abnormalities on either cranial or intracranial vascular magnetic resonance imaging (MRI). However, the patient had a history of subcutaneous hemangioma. Following exhaustive tests at our hospital, she was diagnosed with Cobb syndrome. She received surgery, treatment for decreasing intracranial pressure, and hormonal and nutritional support. She subsequently remained stable, with no recurrence of convulsions over a 9-year follow-up period. Here, we expand upon the clinical manifestations of Cobb syndrome and propose mechanisms for the underlying pathogenesis. We hope that our experience can help avoid missed diagnoses and misdiagnosis and provide more clinical evidence for early diagnosis.

Spinal arteriovenous malformation with segmental cutaneous haemangiomata (Cobb syndrome): A case series and literature review

Spinal arteriovenous malformation with segmental cutaneous haemangiomata (Cobb syndrome): A case series and literature review

Cobb Syndrome: A Case Report with Review of Clinical and Imaging Findings

Cobb syndrome is a rare entity characterized by cutaneous vascular lesions and arteriovenous malformations in the spine, both in the same metamere. This syndrome is also known as cutaneous vertebral medullary angiomatosis, cutaneomeningospinal angiomatosis, and spinal arterial metameric disorder. We report the case of a male infant diagnosed with Cobb syndrome who was treated surgically. The presence of a cutaneous vascular lesion in this patient prompted subsequent imaging for spinal angioma or AVM in the same dermatome. Early recognition in this patient was shown to be life-changing, as patients with Cobb syndrome who have undergone early intervention have shown to be without neurologic deficit or have a halt in progression of symptoms.

Neuro-vascular Abnormalities with a Metameric Nevus: A Case Report and Review of Cobb Syndrome

Cobb syndrome, also known as cutaneomeningospinal angiomatosis, first described by Berenbruch in 1890 and reported by Cobb in 1915, is a rare disorder characterized by spinal vascular malformations and a corresponding dermatomal vascular nevus. It usually presents in children and adults as lower extremity weakness, back pain, sensory loss below the affected level, or paralysis. Onset may be acute, gradual, or follow a stuttering course. Symptoms are thought to result from rupture or expansion of the angioma leading to direct compression of the spinal cord or ischemia due to diverted blood flow. We report a case of a 29-year-old female with a constellation of congenital neuro-vascular abnormalities who presented with lower extremity paresthesias and urinary retention and was found to have a portwine stain in the S1 and S2 dermatomes without a corresponding spinal angioma on imaging.

Coexistence of multiple cavernous angiomas in the spinal cord and skin: a unique case of Cobb syndrome

Cobb syndrome is a rare, noninherited, neurocutaneous disease characterized by vascular abnormality of the spinal cord and is associated with vascular lesions in the skin at the same metamere. The majority of spinal vascular lesions are arteriovenous malformations, and skin lesions are mostly port-wine angiomas. The authors report the first case of multiple intramedullary cavernous angiomas (CAs) accompanied by skin CAs within the same metamere. A 42-year-old man presented with an acute onset of gait disturbance, low-back pain, and urinary incontinence. Magnetic resonance imaging of the thoracolumbar spine showed homogeneously enhanced lesions on a contrast-enhanced T1-weighted image and a hypointense area on a T2*-weighted image surrounding this enhanced lesion, between the T-12 and S-1 levels. Purple protruding skin lesions were detected on the left side of his gluteal region. The patient received a laminectomy followed by evacuation of a hematoma and partial removal of the tumor, which completely resolved his neurological symptoms. Pathological examinations showed that the spinal and skin lesions were CAs, suggesting that these vascular lesions developed congenitally. Cavernous angiomas associated with Cobb syndrome present with multiple lesions spanning more than 3 vertebral levels, making it difficult to completely resect these tumors. Although Cobb syndrome is an uncommon disease entity, it should be considered if a patient manifesting with neurological deficits has skin vascular lesions, including CAs.

Obliteration of a metameric spinal arteriovenous malformation (Cobb syndrome) using combined endovascular embolization and surgical excision

Cobb syndrome represents the concurrent findings of a metameric spinal vascular malformation and a cutaneous vascular malformation within several dermatomes of each other. This rare entity engenders many difficult decisions with respect to appropriate therapeutic management. Historically, surgical excision carried a high morbidity, and conservative management without intervention was preferred. More recently, several cases of endovascular embolization have been reported with good success. The authors describe the case of a 17-year-old boy who presented with a right gluteal angioma and was found to have a spinal arteriovenous malformation. Multiple embolizations failed to prevent neurological deterioration, and the patient eventually became wheelchair dependent. Surgical excision of the malformation led to partial recovery of neurological function, and at the latest follow-up, 52 months postoperatively, the patient was able to ambulate independently. This case demonstrates the successful treatment of a patient with Cobb syndrome with surgical excision after multiple refractory embolizations. A multidisciplinary approach, which balances the patient's current neurological function against the risks and potential gains from any interventional and surgical procedure, is recommended.

Sonographic findings in a neonate with cobb syndrome

Cobb syndrome (cutaneomeningospinal angiomatosis) is a rare phacomatosis characterized by vascular abnormality of the spinal cord associated with a vascular naevus at the same metamere. We report the case of a newborn with Cobb syndrome, diagnosed by sonography of the spine and later confirmed by MRI. In neonates and young infants with dermatomal cutaneous vascular abnormalities, sonography of the spine should be used as the first imaging modality.

Spinal arteriovenous malformation associated with spinal metameric syndrome: a treatable cause of long-term paraplegia?

Cutaneomeningospinal angiomatosis, or Cobb syndrome, is a rare metameric developmental disorder presenting as an extradural-intradural vascular malformation that involves bone, muscle, skin, spinal cord, and nerve roots. A 14-year-old girl with a red nevus involving the T6-9 dermatomes on the left side of her back presented with a 5-year history of bowel and bladder incontinence, paraplegia, and lower-extremity sensory loss. Magnetic resonance imaging demonstrated a hemangioma in the T-8 and T-9 vertebral bodies and a spinal cord AVM nidus extending from T-6 to T-9. The AVM was successfully embolized and the patient regained lower-extremity strength, ambulation, and normal sphincter functions after 5 years of having been wheelchair bound. The authors report the restoration of ambulation after endovascular embolization of a large spinal AVM in a patient with long-standing paraplegia due to Cobb syndrome.

Cobbs syndrome: A case of spinal arteriovenous malformation treated with endovascular embolization

Cobb syndrome is a rare illness that combines vascular skin nevus and spinal vascular malformation at the same metamere. We report the case of a 34-year old man that presented a light low back pain, a slowly progressive paraparesis and abnormal urinary sphincter functioning. MR imaging of the thoracic spine depicted an intramedular arteriovenous malformation. Spinal angiography confirmed these findings. The arteriovenous malformation also affected the chestwall bones and muscles with the same metameric distribution as the intramedular lesion. Due to these findings Cobb syndrome was suspected and in a second physical examination a skin angioma was noted on the patient's back. He was treated with corticosteroids and endovascular coiling and his symptoms rapidly improved. Although pathophysiology of this syndrome is poorly understood and the correct management remains unknown, endovascular treatment has become the first choice for spinal arteriovenous malformations. We believe that combined treatment with corticosteroids and endovascular embolization is an effective procedure to alleviate symptoms and to minimize morbidity.

Angiogenic and inflammatory factor expressions in cutaneomeningospinal angiomatosis (Cobb’s syndrome): case report

We report on a case of cervical cutaneomeningospinal angiomatosis (Cobb's syndrome), a rare somatic disorder, characterized by vascular abnormalities of the spinal cord, with a triad of associated vascular skin, muscle, bone, and dura involvement at the same somite. This case follows an 18-year-old male patient presenting with left extremity weakness and back cervical pain. Magnetic resonance imaging (MRI) revealed a spinal cord arteriovenous malformation (AVM) at the C3-C5 level. Cobb's syndrome was diagnosed by coexistence of cutaneous naevi in a dermatomal pattern and neurological signs of a spinal cord lesion together with cervical MRI and angiography. The patient underwent a combination of staged endovascular embolization and microsurgical resection. Multiple biopsies of the mass including the skin, muscle, dura, and spinal cord at the same somite revealed that the lesions had a similar pathology. Post-operative immunohistochemical characterizations on specimen included CD31, smooth muscle actin (SMA), vascular endothelial growth factor (VEGF), and matrix metalloproteinase (MMP-9). The unique associations of somatic and spinal cord lesion as well as angiogenic and inflammatory factor expressions in all specimens are reported.

The diagnostic and therapeutic strategy of venous hypertensive myelopathy

Objective To explore the diagnosis and treatment of venous hypertensive myelopathy (VHM).Method The data of 69 patients with VHM were analyzed retrospectively.Including spinal drual arteriovenous fistula,perimedullary arteriovenous fistula,Cobb syndrome,narrowing of left renal vein,narrowing of the ascending lumbar vein and spinal AVM with AVF.Results 51 patients underwent interventional therapy,18 cases were treated by microsurgery Satisfactory results were obtained in these patients.Conclusions The diagnostic and therapeutic strategy of Venous hypertensive myelopathy was summarized through our practice,the endovascular treatment and microsurgery all are the effective remedy. Key words: Venous hypertensive myelopathy; Endovascular treatment; Surgical procedures,operative; Outcome

E-041 Combined endovascular embolization and surgical resection of a massive lumbosacral arteriovenous malformation in a patient with Cobb syndrome

Objective and importanceCobb syndrome is a rare condition that includes a cutaneous nevus with an associated spinal vascular lesion at the same dermatome. We present a challenging case of a...

Treatment of cutaneous vertebral medullary angiomatosis

Cutaneous vertebral medullary angiomatosis, also known as Cobb's syndrome, is a part of spinal arteriovenous metameric syndromes (SAMs), is derived from the vascular malformation triad of skin, bone, and spinal cord involvement. It is poorly managed with current treatment modalities. We reviewed the treatment of Cobb's syndrome series and summarized the experiences. A total of 61 cases of Cobb's syndrome with spinal cord dysfunction were treated at our department from February 2003 to December 2007. The treatment followed the same strategy: First step-investigating the pathogenic mechanisms by symptom onset, MRI, angiography and the response to initial treatment. Second step-treating the problematic parts of the lesions with embolization alone, surgery alone or combination of both. Forty-eight cases were embolized, 3 cases treated with surgery and 10 cases treated with a combination of both. Nidus involving pathogenic mechanism for spinal cord were eliminated, completely and nearly disappeared in 36 cases and partially in 25 cases. All patients were followed up regularly. Among these 61 cases, the pathogenic mechanisms were identified as hemorrhage, mass effect, ischemia and venous hypertensive myelopathy. Two or more mechanisms could coexist in the same patient. More than 1-year's spinal cord function follow-up showed: excellent in 9 cases, good in 26, fair in 23 and worse in 3. Not all lesions of Cobb's syndrome can be or should be cured anatomically. Pathogenic mechanism should be analyzed carefully and the treatment should focus on the special cord-affecting targets. Long-term improvement or stabilization may be achieved.

Interventional embolization therapy of Cobb syndrome: a case report

Interventional embolization therapy of Cobb syndrome: a case report

Variety of spinal vascular pathology seen in adult Cobb syndrome

Cobb syndrome is a rare clinical entity that includes the combination of a vascular skin nevus and an angioma in the spinal canal present at identical dermatomal level(s) (cutaneomeningospinal angiomatosis). To date, 38 cases have been reported, only 18 of which are in adults (> 18 years of age). The majority of these cases have been described in the era predating current neuroimaging techniques, and most authors have assumed that each case involves similar vascular pathology. This report highlights 2 patients presenting with similar thoracic cutaneous vascular nevi yet with markedly differing spinal vascular pathology. A 29-year-old man presented with cutaneous hemangioma and a progressive paraparesis and paresthesia of the lower extremities. A 20 x 20-cm port-wine stain over his right upper midback (T6-10) correlated precisely with MR imaging that demonstrated an enhancing epidural mass between T-6 and T-10 causing compression of the cord and cord edema. A 34-year-old man also presented with progressive myelopathy and a 15 x 20-cm port-wine stain within the same dermatomal region as a Type III spinal arteriovenous malformation. Workup for each patient included pre- and postoperative contrast-enhanced MR imaging with vascular sequencing and spinal angiography. The first patient was treated with bilateral laminectomy at the T6-10 levels, with significant postoperative improvement in motor strength. The second patient underwent coil embolization of an intranidal aneurysm, with follow-up embolization 8 years later. Cobb syndrome is an unusual entity in the adult population and should be considered when there is a constellation of cutaneous manifestation and underlying neurological deficit. The vascular skin nevus associated with Cobb syndrome is accompanied by a wide variety of vascular pathologies.

The value of 64-slice CT angiography in diagnosing spinal vascular malformations

Objective To evaluate 64-slice CT angiography in diagnosing spinal vascular malformations. Methods Fifteen patients,who were suggestive of spinal vascular malformations bv clinical manifestation and MRI,underwent CT angiography with a 64-slice spiral CT(GE lightspeed VCT).DSA were performed later within 1 week in all the patients and four of them were treated with operation as well.We evaluated CTA images in displaying the lesions according to the following aspects:the type of malformation,lesion range,feeding artery,draining vein and possible fistula.and compared those details with DSA and operation findings.Results All 15 patients acquired their final diagnosis by DSA and operation,which were intramedullary axteriovenous malformation in 6 cases,perimedullary arteriovenous fistula in 2,spinal dural arteriovenous fistula in 3 and Cobb syndrome in 4 cases. CTA was consistent with DSA in the classification of lesions and in the determination of the involved regions and it reveaIed the main feeding arteries and draining veins in all patients.CTA showed four arteriovenous fistulae confinned bv DSA.but it failed in a complex arteriovcnous fistula.In Cobb syndrome patients,not only the intramedullary but also paravertebral and subcutenous vascular malformation could be clearly seen on CTA images.Conclusion 64-slice CT angiography can be a preliminary method in spinal vascular malformation because it can determine the classification and reveal almost all the main lesions quickly,atraumatically. Key words: Central nervous system vascular malformations; Tomography,X-ray computed