Brent P. Goodman

Clinical and Electrodiagnostic Findings in Copper Deficiency Myeloneuropathy

Introduction: Copper deficiency is an increasingly recognised cause of neurological impairment. This retrospective review highlights clinical and electrodiagnostic findings in patients diagnosed at our institution with copper deficiency. Methods: Clinical, radiographic and electrodiagnostic findings were reviewed in patients with evidence of copper deficiency. Patients with other potential causes of myelopathy or neuropathy were excluded. Results: The predominant clinical feature in all six patients was a sensory ataxia, resulting in marked gait unsteadiness. Nerve conduction studies and needle EMG were performed in all patients and revealed a mild to moderate distal, axonal, sensorimotor peripheral neuropathy. Median and tibial somatosensory evoked potentials were abnormal in all five patients in which it was performed, showing impaired conduction in central or proximal peripheral somatosensory pathways. Conclusions: This pattern of electrodiagnostic findings suggests that impairment in somatosensory pathways demonstrated by somatosensory evoked potential testing is the main cause of the sensory ataxia in patients with copper deficiency.

Prolonged compound muscle action potential duration in critical illness myopathy

Critical illness myopathy (CIM) is a frequent cause of generalized weakness in the intensive care unit. Prolonged compound muscle action potential (CMAP) durations have been described in this patient population, and this study presents further data on CMAP duration in normal controls and patients with CIM. The findings highlight the importance of testing multiple nerve muscle combinations in weak, critically ill patients. Recognition of this pattern, which has not been widely described, can facilitate the diagnosis of CIM. Muscle Nerve, 2009

Successful brainstem cavernous malformation resection after repeated hemorrhages during pregnancy

BACKGROUND Pregnancy may be a risk factor for aggressive behavior in cavernous malformations. Relatively few cases exist in the literature and management is unclear. METHODS This unique case report describes a 28-year-old female 27 weeks pregnant who presented with 2 hemorrhages from a pontine cavernous malformation within 1 week. Morbidity increased with the second hemorrhage. RESULTS The patient underwent a suboccipital craniotomy and excision of the cavernous malformation. She successfully delivered a normal child at 36 weeks gestation and is ambulatory and independent 3 months postoperatively. CONCLUSIONS Pregnancy and prior hemorrhage may be risk factors for repeated hemorrhages. Management decisions can be difficult during pregnancy, but successful excision during pregnancy is possible. The behavior of cavernous malformations and management decisions for this patient are discussed.

Critical Illness Neuromyopathy

Critical illness myopathy, neuropathy, and neuromyopathy are frequently encountered in the intensive care unit, particularly in the setting of sepsis and the systemic inflammatory response syndrome. A multidisciplinary approach is important to optimize management and minimize debility associated with these neuromuscular disorders. This article reviews the underlying pathophysiology, risk factors, clinical presentation, electrodiagnostic evaluation, management, and prognosis of these disorders.

Ondansetron-Induced Multifocal Encephalopathy

We treated a patient who developed transient multifocal encephalopathy with extrapyramidal symptoms (oromandibular dystonia, oculogyric crisis, and limb dystonia) in temporal proximity to ondansetron administration on emergence from general anesthesia. No other medications known to cause extrapyramidal reactions were administered. Although these symptoms resolved fully, the presentation was dramatic and resembled the symptoms of structural brain injury. Ondansetron is used frequently as an antiemetic agent in many clinical settings and is not limited to surgical patients. Therefore, the entire medical community should be cognizant of this potential adverse reaction.

Copper deficiency myeloneuropathy due to occult celiac disease.

Introduction:Copper deficiency is an increasingly recognized cause of gait unsteadiness. Recognized causes of copper deficiency include excess zinc ingestion, and malabsorption. Although hematologic abnormalities have been attributed to copper deficiency in patients with celiac disease, myeloneuropathy due to copper deficiency has not been well described in patients with celiac disease. Case Report:A 69-year-old woman was evaluated for a 5-year history of progressive gait unsteadiness and weight loss. She had no other gastrointestinal symptoms. Her neurologic examination revealed a sensory ataxia, and electrodiagnostic testing confirmed a myeloneuropathy. She had decreased serum copper levels and markedly elevated gliadin and tissue transglutaminase antibodies. Subsequent duodenal biopsy showed findings consistent with celiac disease. The patient was diagnosed with copper deficiency myeloneuropathy due to celiac disease. Adoption of a gluten-free diet along with copper supplementation resulted in significant clinical improvement, including improvement on electrodiagnostic testing. Conclusions:Celiac disease should be considered in patients found to have copper deficiency, even in patients without gastrointestinal symptoms. Furthermore, the authors suggest that some cases of ataxia associated with celiac disease are likely due to copper deficiency myeloneuropathy.

Camptocormia due to inclusion body myositis

Inclusion body myositis is the most common idiopathic inflammatory myopathy in elderly individuals. It typically causes proximal and distal limb weakness with forearm flexors and quadriceps being the most severely affected muscles. Axial musculature is infrequently involved. Here, we report an 80-year-old man who presented with an 18-month history of progressive truncal weakness causing stooped posture while standing and walking. Neurologic examination revealed no limb weakness. magnetic resonance imaging studies showed atrophy and findings, suggesting fatty replacement of paraspinal muscles. Needle electromyography confirmed the presence of an axial myopathy. Thoracic paraspinal muscle biopsy showed canonical features of inclusion body myositis. The current patient broadens the clinical presentation of inclusion body myositis.

Superficial siderosis mimicking amyotrophic lateral sclerosis.

We report a case of superficial siderosis erroneously diagnosed as amyotrophic lateral sclerosis. The patients symptoms began 18 years prior with unilateral upper extremity weakness, fasciculations, and hyperreflexia. The patient then developed ataxia and hearing loss 15 years after his original symptoms. The magnetic resonance images revealed superficial siderosis involving the spinal cord and brain. We want to attract attention to superficial siderosis as a rare amyotrophic lateral sclerosis mimic disorder.

Late-onset axial myopathy and camptocormia in a calpainopathy carrier.

Camptocormia is a debilitating gait disorder characterized by the hyperflexion of the thoracolumbar spine during the upright position. Its etiologies are heterogenous, including parkinsonism and various neuromuscular disorders. Here, we report a camptocormia patient due to a late-onset axial myopathy with numerous lobulated fibers. The patients father reportedly had similar symptoms. Myriad lobulated fibers are common among patients with an autosomal recessive muscular dystrophy due to calpain-3 gene (CAPN3) mutations or calpainopathy. CAPN3 sequencing revealed a single c.759-761delGAA mutation. Calpainopathy carriers are generally asymptomatic. The presence of lobulated fibers in this patient suggests that camptocormia could be a manifestation of calpainopathy carrier, although the possibility of a coexisting undiagnosed myopathy cannot be excluded. The current patient should spur the evaluation of camptocormia among calpainopathy carriers.

Vasculitic neuropathy following exposure to minocycline

Objective: To report 3 patients with minocycline-induced autoimmunity resulting in peripheral nerve vasculitis. Methods: We report 3 patients who, during minocycline treatment for acne vulgaris, developed subacute onset of pain and weakness caused by vasculitis in single and multiple mononeuropathy patterns. Results: Each patient underwent either a nerve or muscle biopsy that confirmed vasculitis. One patient additionally developed systemic symptoms (including fever, fatigue, and night sweats) and another had a posterior circulation stroke. Symptoms developed with either early or prolonged use of minocycline. Despite withdrawal of minocycline, patients needed long-term immunotherapy to gain neurologic improvement. Conclusions: Our findings suggest that the typical neuropathy associated with minocycline use is painful single or multiple mononeuropathy due to peripheral nerve vasculitis, which may also be accompanied by presumed CNS vasculitis (presenting as stroke).