A 29-year-old man presented with cutaneous hemangioma and a progressive paraparesis and paresthesia of the lower extremities. [ncbi.nlm.nih.gov]

Signs and symptoms[edit] The disease is present at birth, but clinical manifestations are often not seen until later in life. [en.wikipedia.org]

This is the first case presented from an institution of Argentina. [surgicalneurologyint.com]

• Arm Pain

  We present a 16-year-old boy with undiagnosed Cobb syndrome who developed acute chest and right arm pain followed by severe quadriparesis and respiratory failure; the patient recovered substantially after microsurgical treatment without embolization. [surgicalneurologyint.com]

• Soft Tissue Mass

  tissue mass along the right anterior abdominal wall. [casereports.bmj.com]

• Localized Pain

  The radiation of pain from the back to the stomach must make one think of aneurysm, gastric ulceration, cholecystitis, or appendicitis, knowing that younger patients have difficulty specifically localizing pain. [healio.com]

• Acute Onset of Symptoms

  acute onset of symptoms than do adults. 3, 10 A review of 72 cases of pediatric spinal vascular malformation found a 52.8% incidence of acute presentation versus a 30.6% incidence of chronic, progressive symptom presentation for intramedullary spinal [neupsykey.com]

• Leg Weakness

  The patient's medical history included excision of a cavernous vascular malformation from the corresponding segment of his thoracic spinal cord 4 years prior, reversing 7 years of progressive leg weakness and neural deficits. [ncbi.nlm.nih.gov]

  We report on a case of Cobb syndrome, a rare metameric disorder, characterized by a vascular abnormality of the spinal cord, with an associated vascular skin lesion of the same metamere, in an 8-year-old girl presenting with leg weakness. [researchers.mq.edu.au]

• Angiomatosis

  Meningo-spinal cutaneous angiomatosis]. 61 Gordon-Firing S...Brodbek I 6765612 1981 50 The Cobb syndrome: association with hereditary cutaneous hemangiomas. 61 Mercer RD...Alfidi RJ 668112 1978 [malacards.org]

  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. [scirp.org]

  Keywords: Acute quadriparesis, Cobb syndrome, cutaneomeningospinal angiomatosis, Harvey Cushing, phacomatosis, spinal arteriovenous malformation INTRODUCTION The first case of a cutaneomeningospinal angiomatosis was described by Stanley Cobb in 1915,[ [surgicalneurologyint.com]

  Cobb syndrome (Cutaneomeningospinal Angiomatosis) is a rare segmental neurocutaneous syndrome associated with metameric cutaneous and spinal cord arteriovenous malformations (AVMs). [ncbi.nlm.nih.gov]

• Angiokeratoma

  In this syndrome, capillary malformation or angiokeratoma-like lesions are formed in a dermatomal distribution, with an AVM in the corresponding segment of the spinal cord. [ncbi.nlm.nih.gov]

  Angiokeratomas are mainly of five types: (1) Solitary or multiple angiokeratomas, (2) angiokeratoma of Mibelli, (3) angiokeratoma of Fordyce, (4) angiokeratoma corporis diffusum, and (5) AC. [ijpd.in]

  […] of Fordyce; ( iv ) Solitary papular angiokeratoma and ( v ) Multiple papular and plaque like -angiokeratoma circumscriptum [1]. [indianpediatrics.net]

  Variants of angiokeratomas include solitary and multiple angiokeratoma, angiokeratoma circumscriptum, angiokeratoma of Fordyce, angiokeratoma of Mibelli, and angiokeratoma corporis diffusum. [1] Angiokeratoma circumscriptum is the rarest variant. [idoj.in]

• Skin Lesion

  The majority of spinal vascular lesions are arteriovenous malformations, and skin lesions are mostly port-wine angiomas. [ncbi.nlm.nih.gov]

  Cobb syndrome Other names Spinal arteriovenous metameric syndrome Cobb syndrome is a rare congenital disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations (AVMs).[1] The skin lesions of Cobb syndrome [en.wikipedia.org]

  Cobb syndrome is a rare, non-inherited disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations (AVM). [nicklauschildrens.org]

• Cutaneous Manifestation

  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. [ncbi.nlm.nih.gov]

  The cutaneous manifestations of the syndrome are most often flat vascular lesions (port-wine stains) but angiokeratomas, angiolipomas and lymphangiomas have been reported. The medullary lesions are arteriovenous malformations. [orpha.net]

• Urinary Incontinence

  A 42-year-old man presented with an acute onset of gait disturbance, low-back pain, and urinary incontinence. [ncbi.nlm.nih.gov]

• Overflow Incontinence

  Cauda equina syndrome can present with severe back pain with saddle anesthesia accompanied by a disturbance of bowel and bladder function (overflow incontinence and poor rectal tone). [healio.com]

• Myelopathy

  The authors present the case of a patient with acute cervical myelopathy and subtle cutaneous hemangiomas in whom a cervical perimedullary fistula was discovered. [ncbi.nlm.nih.gov]

• Meningism

  The spinal AVMs are most commonly intramedullary, but may be meningeal or perimedullary. MRI and/or conventional spinal arteriogram demonstrate a high flow vascular anomaly. [birthmarks.us]

  Cobb syndrome consists of the association of cutaneous angiomatosis and angiomatosis of the spinal cord, the adjacent meninges, or both (Figure 307.2). Figure 307.2. — Cobb syndrome. [pediatricneuro.com]

  The neural crest gives rise to a wide range of cell types, including skin, connective tissue, the skeleton of the craniofacial region, forebrain meninges, and the tunica media of the blood vessels of the face and forebrain (the endothelial cells here [radiologykey.com]

  Symptoms reported in the literature include neck, chest, and back pain; sensory and motor deficits; bowel and bladder dysfunction; headache; altered mental status; meningeal symptoms; and spinal bruit. 3, 15 – 18 Children more commonly present with an [neupsykey.com]

  When this happens, back pain will evolve into a terrible headache, with meningeal signs, etc. In such cases, a brain subarachnoid hemorrhage workup is often the starting point. [neuroangio.org]

• Monoplegia

  Examination On examination, the patient presented flaccid paraplegia, with areflexia of the lower limbs, monoplegia of the right arm, and monoparesis of the left arm 2/5 proximal, 1/5 distal. [surgicalneurologyint.com]

• Spinal Cord Syndrome

  It is stressed the importance of clinical suspicion of cutaneo-meningospinal angiomatosis based on a spinal cord syndrome in the presence of a vascular skin nevus of the same metameric level. [ncbi.nlm.nih.gov]

• Foot Drop

  Examination of the bilateral lower extremity showed marked steppage gait with bilateral external rotation deformities and bilateral foot drop. [casereports.bmj.com]

Workup for each patient included pre- and postoperative contrast-enhanced MR imaging with vascular sequencing and spinal angiography. [ncbi.nlm.nih.gov]

A thorough workup is recommended by a vascular anomaly specialist after identification. [hemangioma.com]

In such cases, a brain subarachnoid hemorrhage workup is often the starting point. Head CT shows hemorrhage, and a bloody tap will show up if one does an LP. In these cases, a cerebral workup is negative. Do not miss a spinal source! [neuroangio.org]

• Periostal Elevation

  Cobb chisel Cobb curet Cobb gouge Cobb method Cobb osteotome Cobb periosteal elevator Cobb retractor Cobb spinal elevator Cobb syndrome - cutaneous angiomas, usually in a dermatomal distribution on the trunk, associated with vascular abnormality of the [medical-dictionary.thefreedictionary.com]

Management and treatment Treatment of the osteomuscular malformations involves embolisation (endovascular navigation and occlusion of the arteries feeding the malformation using a biological glue) and/or surgery. [orpha.net]

We emphasize the role of microsurgery because it is the only treatment modality that offers (in selected cases of compact AVMs) complete removal of the malformation and can achieve very good results if diagnosis is followed by treatment in a timely manner [surgicalneurologyint.com]

Treatment options remain ambiguous and have included use of steroids, surgery and endovascular embolisation. Recognition of the associated cutaneous lesions with spinal lesions will allow for prevention and treatment of neurological symptoms. [casereports.bmj.com]

Prognosis likely depends on the severity of the spinal pathology and the timeliness of diagnosis and intervention. Patients who present with rapidly progressing neurological deficits may have a worse prognosis. Early diagnosis is critical. [emedicine.medscape.com]

Prognosis The disease course is unpredictable and the lesions may remain asymptomatic for long periods of time. The documents contained in this web site are presented for information purposes only. [orpha.net]

Treatment and prognosis Patients should be referred to a neurosurgeon and an interventional radiologist for embolization and decompression. [radiopaedia.org]

Etiology The syndrome is not familial or hereditary and no chromosomal anomaly has been described. [orpha.net]

Summary Epidemiology Less than 100 cases of Cobb syndrome have been reported in the literature. There is no sex predilection. Cobb syndrome represents less than 15% of cases of spinal cord arteriovenous malformations. [orpha.net]

Epidemiology Less than 100 cases of Cobb syndrome have been reported in the literature. There is no sex predilection. Cobb syndrome represents less than 15% of cases of spinal cord arteriovenous malformations. [rarediseases.info.nih.gov]

The pathophysiology is similar to spinal pial fistulas, presenting with cord venous congestion. Right T10 injection demonstrates premature opacification of a spinal vein (blue) via a fistula (purple) supplied by the anterior cerebral artery (red). [neuroangio.org]

[…] anatomical variations are hypothesized to predispose to a “flap-valve” occlusion of the natural maxillary sinus ostium wherein the sinus becomes completely occluded allowing gas resorption and development of negative pressure in the sinus antrum. [11] Pathophysiology [eyewiki.aao.org]

Regarding the manifestations in the head and neck area, pathophysiological knowledge could be included in the treatment planning. [egms.de]

Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist 2011;17(4):179–184. Crossref, Medline, Google Scholar 25 Welty LD. Sturge-Weber syndrome: a case study. [pubs.rsna.org]

Recognition of the associated cutaneous lesions with spinal lesions will allow for prevention and treatment of neurological symptoms. [casereports.bmj.com]

Multiple embolizations failed to prevent neurological deterioration, and the patient eventually became wheelchair dependent. [ncbi.nlm.nih.gov]

The spinal vascular lesions can cause neurologic deficits, including paralysis. [2, 3] Early recognition of the association between the vascular skin lesions and associated spinal lesions may prevent or minimize neurological sequela. [emedicine.medscape.com]

The embolization that occurred was to stop the continued bleeding to prevent a mass effect, and to reduce/eliminate the artereovenous malformation to prevent further embolic complications. [healio.com]