Diffuse Venous Malformations of the Upper Extremity (Bockenheimer Disease): Diagnosis and Management.

BACKGROUND: Diffuse venous malformations that involve all tissues in the upper limb and ipsilateral chest wall are known as "phlebectasia of Bockenheimer." The authors describe their experience with management of this uncommon vascular anomaly. METHODS: The authors' Vascular Anomalies Center registry comprised 18,766 patients over a 40-year period. This review identified 2036 patients with venous malformations of the extremities (10.8 percent), of whom only 80 (0.43 percent) had Bockenheimer disease. The authors retrospectively analyzed patient characteristics, diagnostics, treatments, and complications. RESULTS: The venous malformation was first noted at birth or within the first few years of life with slow and gradual progression. Pain was related to engorgement of the limb. Thromboses and phleboliths were common, but diffuse intravascular coagulopathy occurred in only 12 patients (15 percent). Skeletal involvement was demonstrated as lytic lesions, cortical scalloping, osteopenia, and pathologic fractures. Management included compression garments (100 percent), sclerotherapy (27.5 percent), and resection of symptomatic areas in 35 percent of patients. Adjunctive pharmacologic medication was given in 7.5 percent. Following resection, 17 patients (60 percent) had one or more complications: hematoma, wound dehiscence, flap loss, contracture, and psychosis. There were no deaths. Symptoms improved in all patients with useful functional outcomes. CONCLUSIONS: The decision to pursue compression, sclerotherapy, pharmacologic treatment, or resection alone or in combination was made by an interdisciplinary team. Although extensive venous malformations cannot be completely ablated, debulking of symptomatic regions, resection of neuromas, and noninvasive treatments improve the quality of life. Despite the bulk and weight of the arm, forearm, and hand, and the ominous appearance on magnetic resonance imaging, these patients remain functional. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, V.

Qualitative study of patients with venous malformations: symptom experiences and content validity of patient-reported outcome measures.

PURPOSE: To determine important symptoms and functional effects of venous malformations (VMs) to assess the content validity of commonly used patient-reported outcome (PRO) measures for use with VM patients. METHODS: This cross-sectional, qualitative study involved cognitive interviews with participants with VM aged ≥ 14 years. From February to June 2016, 11 participants (8 female) with a mean (± standard deviation) age of 31 ± 15 years were recruited from three clinical sites. The following subgroups were evaluated: 5 adults (aged ≥ 18) with trunk/extremity VMs; 3 adolescents (aged 14-17) with trunk/extremity VMs; and 3 adults with head/neck VMs. We evaluated the content validity of the Worst Pain Numeric Rating Scale (NRS), Patient-Reported Outcomes Measurement Information System (PROMIS®) Pain Interference 8-item short form, and PROMIS Physical Function 8-item short form. RESULTS: The most common participant-reported VM symptoms were swelling (n = 10), skin discoloration (n = 8), acute episodic pain (n = 8), chronic pain (n = 7), numbness (n = 7), and tingling/burning (n = 6). Participants reported that VMs affected their physical function (n = 10), appearance (n = 10), relationships/social activities (n = 7), and emotional health (n = 3). The Worst Pain NRS and PROMIS Pain Interference measures were relevant to all participants' VM experience. Only adults with head/neck VMs found the PROMIS Physical Function measure to be irrelevant. The assessed PRO measures did not address several symptoms commonly reported by VM patients (swelling, skin discoloration, numbness, and appearance). CONCLUSION: These results suggest that several VM symptoms are not assessed fully by commonly used PRO measures, and that the relevance of functional limitation questions may vary by VM location.

Psychosocial Impact of Vascular Anomalies on Children and Their Families.

Vascular anomalies are divided into tumors and malformations based on their clinical and cytologic attributes. Vascular malformations are further subcategorized as low-flow lymphatic, venous, capillary, or mixed lesions and as high-flow arteriovenous malformations. Treatment is reserved for vascular anomalies that are symptomatic or cosmetically disfiguring, and surgical and nonsurgical treatment options are widely varied with variable outcomes.

Paediatric vascular birthmarks--the psychological impact and the role of the GP.

BACKGROUND: This study was designed to investigate the psychosocial impact on the family of a child with a vascular birthmark and examine the role of the general practitioner in meeting the family's needs. METHOD: Nineteen families were interviewed with a questionnaire before their assessment at the Sydney Children's Hospital (New South Wales) Vascular Birthmarks Clinic. RESULTS: Sixty-eight percent of parents overestimated the size of their child's lesion when asked to draw it; 15% said some lifestyle modifications had to be made to accommodate their child's condition; 63% were concerned about their child being teased at school; and 36% had issues of self blame and embarrassment. Expectations from the clinic included information (68%), treatment (47%) and reassurance (26%). CONCLUSION: Vascular birthmarks are common. Treatment strategies are improving, but there is a need to adequately address the psychosocial impact that these lesions have, both on parents and children. The GP is the carer best placed to meet these needs.

Skills of the surgeon, eye of an artist, mind of the analyst.

Plastic and reconstructive surgery challenges the surgeon in ways often difficult to comprehend. Not only does the surgeon have to perfect the appropriate techniques for the surgical intervention, but he/she also assesses the patient with the eye of the artist and the mind of a psychoanalyst. Working with children and adolescents and their parents requires even more complex skills because it is required to assume the position of the parent to interpret their wishes, hopes, and fears. Over decades, John Mulliken has been the exemplar of the surgeon able to take on these manifold challenges. Dr Mulliken's special focus on healing the cleft lip and palate has offered to generations of young people and their families a life freer of the complex and sometimes devastating consequences of living with a deformity. Moving for ever earlier intervention, Dr Mulliken broke new ground surgically but from a psychological perspective offered the chance to avoid a host of psychological problems. Dr Mulliken's surgical intervention for nevi and other vascular malformations has had a long-lasting psychological impact on the lives of children. This article traces the place of plastic and surgical reconstructive surgery as a field intertwined with the psychological development of the individual and describes the ways in which Dr Mulliken's approaches have enhanced the well-being of so many.

Pediatric case study and review: is it a conversion disorder?

OBJECTIVE: It is common in health care settings for adolescent patients to report physical symptoms that are unexplained by physical disease or pathophysiologic processes. The diagnosis of conversion disorder is difficult to make as many of these patients present to primary care with complex, difficult-to-understand medical symptoms. Patients can present with a medical dilemma and a symptom model consistent with a conversion disorder, but there is a danger of misdiagnosis without a thorough medical work up. METHOD: This case report describes a patient where the misdiagnosis of conversion disorder could have had devastating long-lasting neurologic sequelae. It appeared as if an unconscious conflict was being expressed through physical symptoms as she had ongoing family stressors prior to the onset of mysterious symptoms. CONCLUSIONS: The patient was found to have a spinal cord arteriovenous malformation. This condition is relatively uncommon in the pediatric age group, and early diagnosis is rarely made.

Stereotactic radiosurgery: the patient's experience.

Stereotactic radiosurgery (SRS), a highly technical treatment for life-threatening brain tumors and vascular malformations, is provided at one site (Dunedin Hospital) for all New Zealand. The full-day procedure begins with the surgical attachment by bone screws of a metal helmet, followed by computerized tomography with or without angiography, and concludes with focused irradiation of the lesion. Previous SRS research has focused on therapeutic indications and outcomes; we report here patients' experiences of this procedure using both qualitative and quantitative methods. Participants (n = 12) uniformly described SRS as unusual and highly significant, a pivotal event shaping the future. For most, the procedure symbolized relief of symptoms, hope, reduction of risk, and recovery. Descriptions of the disruption produced by the onset of symptoms, diagnostic procedures and SRS, followed by a period of uncertain prognosis, also signaled experiences of liminality. Although patients experienced anxiolysis and described status changes following SRS, their lives are not returned to normal; they continue to inhabit a liminal state between health and normality on one hand, illness and disability on the other. Our findings indicate aspects of the experience of SRS for patients and their families that could assist in technically informing and emotionally supporting patients through this unusual treatment.

The Cotard syndrome. Report of two patients: with a review of the extended spectrum of 'délire des négations'.

The Cotard syndrome is characterized by the delusion where an individual insists that he has died or part of his body has decayed. Although described classically in schizophrenia and bipolar disorder, physical disorders including migraine, tumour and trauma have also been associated with the syndrome. Two new cases are described here, the one associated with arteriovenous malformations and the other with probable multiple sclerosis. The delusion has been embarrassing to each patient. Study of such cases may have wider implications for the understanding of the psychotic interpretation of body image, for example that occurring in anorexia nervosa.

Memory impairment and deep brain structures.

Clinical and neuropsychological investigations were performed using the Luriya method in 141 patients with arteriovenous malformations (AVM). These included 27 patients with AVM in different parts of the caudate nucleus, 34 with AVM in the thalamus, 39 with AVM in the hippocampal formation, and 41 with AVM in the cingulate gyrus. A total of 102 patients underwent surgery. Patients with AVM in various locations showed common memory impairments as well as individual features of memory disturbances depending on which structures were affected. The common feature was the development of an amnesiac symptom complex resembling Korsakov's syndrome. These lesions developed only in patients with combined damage to deep structures (preoperatively in patients with ventricular hemorrhages); with the exception of patients with AVM of the caudate nucleus, memory impairments were modality-non-specific; all patients showed impairment of auditory-speech memory at the late phase and of visual memory in terms of indirect recall. Memory impairments characteristic of lesions to individual structures were the presence of functional asymmetry of memory defects in available of the caudate nucleus and thalamus (if only speech problems were present) and constant inclusions and contaminations in patients with AVM of the cingulate gyrus. It is suggested that certain aspects of memory function may have been duplicated in different structures during evolution and that each structure makes its own contribution to overall memory function.

The experience of Wernicke's aphasia.

The authors induced a transient Wernicke's aphasia in a patient with left frontal arteriovenous malformation by superselective Wada injection exclusively into the lower division of the left middle cerebral artery. The patient was then asked to recall his experience, which the authors matched against his language during anesthesia. The patient's account showed that there was a more systematic attempt to respond appropriately than the authors could infer from his overt behavior. His narrative suggests that a thought process not measured by aphasia examinations may exist independent of language.

Spinal arteriovenous malformations. Health-related quality of life after embolization.

The overall function, pain and mood disturbances of 19 patients with spinal arteriovenous malformations (AVM), treated by embolization between 1983 and 1988, were studied. The after-care had taken place in different hospitals and clinics. The patients demonstrated markedly poorer physical function (Sickness Impact Profile) and poorer psychological well-being (Mood Adjective Check List) than control population samples and a comparison group of traumatic incomplete paraplegics. The degree of decrease of mood levels implied possible depressive disorder (Hospital Anxiety and Depression scale) in 16% of the patients and differed from that of the paraplegic comparison group. Furthermore, the AVM patients reported more disturbance of their family and social life than the paraplegics and they were more seldom gainfully employed. Patients recorded a wide range of pain scores, significantly worse than the paraplegics, and their pain was closely linked to overall quality of life (QL) perception. The QL scores were consistently related to all measures of functional and emotional status, but no connection with neurological lesion levels or medical complications was found. Specialised programmes after embolization, such as those offered in spinal injury units, would appear appropriate for AVM patients to improve their physical functioning and to provide a more rewarding social life.

[Visual hallucination in the hemianopic field caused by dural arteriovenous malformation].

We presented a 65-year-old man with the right occipital dural arteriovenous malformation (AVM) who first experienced photopsia in his left inferior quadrantanopic field and then developed formed hallucinations 8 days later. His visual hallucinations disappeared with saccadic eye movements. EEG showed no epileptic discharge. MRI revealed hyperintensity in the right medial occipital lobe on proton density image. 123I-IMP SPECT during the hallucinations revealed decrease of regional cerebral blood flow (r-CBF) not only in the right medial occipital lobe but also in the right lateral occipital and in the right medial temporal lobe. Both left inferior quadrantanopia and visual hallucinations disappeared following the treatment of the dural AVM by transarterial embolizations. Because the lesion on MRI improved after the treatment, we considered that the lesion was brain edema, not infarction. Additionally decreased r-CBF in the temporo-occipital lesion on SPECT improved after the treatment, we emphasized the role of the temporo-occipital lesion as the cause of visual hallucinations in the hemianopic field.

Autonomic and behavioral evidence of "implicit" memory in amnesia.

A profoundly amnesic patient with a left retrosplenial-fornix lesion was tested on a recognition task that evaluated both verbal and electrodermal aspects of new learning. In addition, "implicit memory" tasks (mirror reading and perceptual identification) were given. The patient displayed strong evidence of learning on all tasks although the results of this learning were not represented in explicit recall or recognition. These findings suggest that autonomic as well as behavioral evidence can index spared memory functions in amnesia. The specific meaning of electrodermal recognition and its possible place in the distinction between implicit and explicit memory is discussed.

Speed-accuracy optimization in acquisition of figures after focal cerebral lesion.

Seventy-seven brain damaged patients and 14 control subjects performed a visual memory test in which the subjects had to reproduce geometric figures from memory after studying the design for 10 seconds (standard condition) and after an observation period subjectively necessary and sufficient for accurate reproduction (self-timed condition). The brain damaged patients were less efficient than the control subjects on the self-timed acquisition even when the covariance on the standard condition was taken into account. The prediction that frontal lobe damaged patients are inferior to posterior brain damaged patients on the speed-accuracy optimization of acquisition was true only in the right hemisphere damaged patients on the simple trials, suggesting that right frontal lobe damage disturbs voluntary attention. Visuospatial errors were typical for right hemisphere damaged patients, perservations for left frontal lobe damaged patients.

Epileptic facial metamorphopsia.

A 14-year-old patient with a right parietal arteriovenous malformation presented with seizures characterized by metamorphopsia of faces. Unlike adults with right hemisphere pathology she performed like an age matched control on a task requiring recognition of unfamiliar faces. This likely reflects maturational changes in hemispheric dominance for face recognition.