Cases reported "Nervous System Diseases"

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1/250. Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency neuropathy: response to cod liver oil.

    Docosahexaenoic acid (DHA) deficiency has recently been documented in several children with long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency (LCHADD). We studied a 13-year-old boy with LCHADD who had limb girdle myopathy, recurrent myoglobinuria, and progressive sensorimotor axonopathy with demyelination. At 11 years of age, he was started on cod liver oil extract, high in DHA content. Over 12 months, he demonstrated a marked clinical recovery. Nerve conduction studies (NCS) demonstrated reappearance of previously absent posterior tibial and peroneal nerve responses and the amplitudes on motor ulnar and median NCS markedly increased from 7- to 14-fold, respectively.
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2/250. Acute inflammatory neuropathy in charcot-marie-tooth disease.

    The authors report an association between acute inflammatory neuropathy and previously undiagnosed Charcot-Marie-Tooth 1A disease in a 15-year-old girl. sural nerve biopsy study showed hypertrophic neuropathy with endoneurial infiltrates of macrophages and lymphocytes. This association may be coincidental, but a particular susceptibility to damage of these peripheral nerves cannot be excluded. This report confirms the importance of pes cavus as a sign of long-standing sensorimotor neuropathy.
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3/250. charcot-marie-tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.

    charcot-marie-tooth disease type 1, also known as hereditary motor sensory neuropathy type 1, is an uncommon autosomal dominant disease that causes destruction of peripheral nerves with a varied clinical course, but often leads to muscle weakness. If the peroneal muscle is involved, the patient may develop a characteristic slapping gait. The dose-limiting side effect of the chemotherapeutic agent vincristine is usually its neurotoxicity. We report the case of a 5-year-old patient with leukemia who developed an acute polyneuropathy after treatment with vincristine. charcot-marie-tooth disease type 1 was diagnosed in the patient and, subsequently, in his mother only after vincristine toxicity was observed.
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4/250. iliac artery pseudoaneurysm following renal transplantation presenting as lumbosacral plexopathy.

    A renal transplant patient developed chronic and progressive back and lower extremity pain followed by foot weakness. The correct diagnosis of lumbosacral plexopathy was made after electromyography and nerve conduction studies and the etiology of radiculopathy due to nerve root compression was excluded. This prompted further investigations that led to the discovery of a large internal iliac artery pseudoaneurysm. We emphasize the use of electrodiagnostic studies to investigate patients with back and limb pain for correctly localizing responsible pathology. In this case a potentially lethal situation was correctly identified in a transplant patient.
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5/250. Diffuse acute cellulitis with severe neurological sequelae. A clinical case.

    The incidence of head and neck odontogenic infections considerably diminished in the last decades due to appropriate antibiotic therapy. Herein we describe a case of acute diffuse facial cellulitis following tooth extraction in a patient with no apparent risk factor. During the acute process, injury was caused to the hypoglossal, vagal, glossopharyngeal and recurrent nerves of both sides. For this reason the patient currently has a nasogastric line for enteral feedings and a tracheotomy tube, which significantly affects his quality of life.
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6/250. Detection of skin over cysts with Spina bifida may be useful not only for preventing neurological damage during labor but also for predicting fetal prognosis.

    Spina bifida is one of the most common open neural tube defects. There are two common types of spina bifida cystica, myelomeningocele and meningocele. Special attention to the thickness of the cystic sac (presence of intact skin and subcutaneous tissue) on magnetic resonance imaging is advantageous for determination of whether the child will profit from cesarean section in order to prevent neurological change (infection and drying of nerve tissue) and for management of spina bifida (most meningocele) during the perinatal period. Furthermore, skin detection may help to predict the prognosis of spina bifida after birth. meningocele, with intact skin over the cyst, has a better clinical course than myelomeningocele. Some myelomeningoceles with neural tube defects in a lower position, also frequently having an intact skin over the cyst, have almost the same clinical course as a meningocele. From this, we hypothesize that a baby with spina bifida who has intact skin over the cyst might have a good prognosis neurologically. In this report, we concentrate attention on the skin over cysts in 3 cases (1 meningocele and 2 myelomeningoceles).
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7/250. Neuro-otologic manifestations of sarcoidosis.

    sarcoidosis is an idiopathic disease which presents in anatomic areas of concern to otorhinolaryngologists. It can cause dysfunction of both auditory and vestibular systems. In patients known previously to have sarcoidosis, this disease should be seriously considered. In patients presenting with otologic disorders and associated facial nerve paralysis or other neuropathies, uveitis, granulomatous meningitis or diabetes insipidus, sarcoidosis should be suspected. An examination of the eyes as well as a chest X-ray is imperative. Sudden and fluctuating neurosensory hearing loss has been reported. There is a great need for the study of temporal bones from sarcoidosis patients.
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8/250. Methyl-prednisolone in neurologic complications of Mycoplasma pneumonia.

    In patients with Mycoplasma pneumonia extrapulmonary manifestations such as encephalitis, meningitis, cerebellar and brain stem involvement, cranial nerve lesions, peripheral neuropathy, polymyositis have been observed. We report a 16-year-old girl with M. pneumonia infection, acute behavioral changes and coma. Treatment with high dose methyl-prednisolone and clarithromycin led to rapid clinical improvement.
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9/250. Neurological symptoms in patients whose cerebrospinal fluid is culture- and/or polymerase chain reaction-positive for mycoplasma pneumoniae.

    We describe 13 patients with neurological signs and symptoms associated with mycoplasma pneumoniae infection. M. pneumoniae was isolated from the cerebrospinal fluid (CSF) of 9 patients: 5 with meningoencephalitis, 2 with meningitis, and 1 with cerebrovascular infarction. One patient had headache and difficulties with concentration and thinking for 1 month after the acute infection. M. pneumoniae was detected, by means of PCR, in the CSF of 4 patients with negative culture results. Two had epileptic seizures, 1 had blurred vision as a consequence of edema of the optic disk, and 1 had peripheral nerve neuropathy.
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keywords = nerve
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10/250. Fatal infantile X-linked neuropathy.

    We report a pedigree with severe X-linked neuropathy that occurs in male infants and results in death, typically by 2 years of age. The proband of our report was weak with preserved mentation. He underwent extensive evaluation, which revealed abnormal nerve conduction studies, neurogenic changes on muscle biopsy, a decreased number of large myelinated fibers and rare onion bulb formations on nerve biopsy, negative gene testing for spinal muscular atrophy, CMT1a, and CMTX1 and a normal brain magnetic resonance image. The proband's mother, an obligate carrier, had normal nerve conduction studies. male infants with a spinal muscular atrophy phenotype but normal genetic studies should be evaluated for this fatal X-linked neuropathy.
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