Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed

Peripheral neuropathy in Behcet's disease

Ozturk Durmaz, Emel/0000-0003-0661-9720; ULKATAN, SEDAT/0000-0002-9288-7635WOS: 000222339600002PubMed: 15235183Bchcet's disease (BD) is a multisystem disorder. Since its first description, the involvement of many organ-systems has been studied. However, the involvement of the peripheric nervous system has not been well documented yet. Twenty-six patients involved in the study were without prominent complaints of neuropathic symptoms. They were surveyed through the outpatient clinic of the department of dermatology. Each patient filled out a total neuropathy score (TNS) questionaire after their neurologic exam. A neurology specialist conducted the electrophysiological study. Our results were noteworthy because this complication was present without significant complaint. We hypothesized that the nerve dysfunction or peripheral neuropathy of BD is an axonal type of distal polyneuropathy and predominantly involves the lower extremities. We did not find a predominant motor or sensory nerve involvement. This complication is mentioned and reported rarely in BD

Dual benefit from intramuscular interferon-? treatment in a patient with multiple sclerosis and chronic hepatitis-C virus infection

PubMed: 12397766In patients with hepatitis C virus infection interferon-? therapy is most effective when administered by the intravenous route. However we would like to present a patient with multiple sclerosis and chronic hepatitis C virus infection who obtained dual benefit from intramuscular interferon-? therapy. Intramuscular interferon-?1a (Avonex) 6 million U/week was started for prevention of attacks in a 32-year old woman with multiple sclerosis. She had aquired hepatitis C virus infection from blood transfusion during a Caesarean section. Although serum transaminases were within normal limits anti-hepatitis C virus test by ELISA and hepatitis C virus RNA by polymerase chain reaction were positive. Liver biopsy revealed chronic persistent hepatitis. Considering the use of interferon-?1a for multiple sclerosis prophylaxis and the stage of hepatitis the patient was not offered any additional treatment. Repeat liver biopsy performed after one year showed the absence of previous findings. The patient has also cleared the hepatitis-C virus RNA

Dual benefit from intramuscular interferon-beta treatment in a patient with multiple sclerosis and chronic hepatitis-C virus infection

ULKATAN, SEDAT/0000-0002-9288-7635WOS: 000178568600057PubMed: 12397766In patients with hepatitis C virus infection interferon-beta therapy is most effective when administered by the intravenous route. However we would like to present a patient with multiple sclerosis and chronic hepatitis C virus infection who obtained dual benefit from intramuscular interferon-beta therapy. Intramuscular interferon-beta1a (Avonex) 6 million U/week was started for prevention of attacks in a 32-year-old woman with multiple sclerosis. She had acquired hepatitis C virus infection from blood transfusion during a Caesarean section. Although serum transaminases were within normal limits anti-hepatitis C virus test by ELISA and hepatitis C virus RNA by polymerase chain reaction were positive. Liver biopsy revealed chronic persistent hepatitis. Considering the use of interferon-beta1a for multiple sclerosis prophylaxis and the stage of hepatitis the patient was not offered any additional treatment. Repeat liver biopsy performed after one year showed the absence of previous findings. The patient has also cleared the hepatitis-C virus RNA

Serebrotendi?nöz ksantomatosi?s

Cerebrotendinous xanthomatosis is a rare metabolic disease of autosomal recessive inheritance. Clinical findings include tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels. We report a case aged 17 had painless, semimobile, solid masses on her both achilles tendon diagnosed as cerebrotendinous xanthomatosis. Cerebrotendinous xanthomatosis must be considered in the diagnosis of patients with tendon xanthoma, cataract, neurological dysfunction, ataxia, dementia, slightly high serum cholesterol levels

Changes of Pudendal Somatosensory Evoked Potentials (PSEP) after Sildenafil Application in Erectile Dysfunction with Diabetic Polyneuropathy (PNP)

Batislam, Ertan/0000-0002-7493-4573WOS: 000207657300076

New methodology for facial nerve monitoring in extracranial surgeries of vascular malformations

OBJECTIVE: To develop a more reliable methodology for monitoring the facial nerve in surgeries of vascular malformations where the extracranial segment of the nerve is at risk. METHODS: Our methodology comprises: (1) preoperative mapping to identify the anatomical location of the nerve branches, (2) continuous intraoperative monitoring of the compound muscle action potential (CMAP) by stimulating the facial nerve extracranially, in close proximity to where the trunk of the facial nerve exits the skull at the stylomastoid foramen, (3) intraoperative mapping to identify the nerve branches during surgical dissection and quantify the innervating contribution of each branch to the target muscle. RESULTS: Only three out of 201 surgeries (1.5%) had complete facial nerve trunk injury as a consequence of facial vascular malformation surgery. CONCLUSIONS: We developed a new method to continuously stimulate the facial nerve extracranially eliciting an objective parameter--the CMAP amplitude--to constantly measure changes in the muscle responses throughout surgery, alerting the surgeon before the facial nerve is severely injured. Our methodology notably reduces the complete facial nerve injury during extracranial surgery of facial vascular malformations. SIGNIFICANCE: This comprehensive methodology may also be a valuable tool to prevent facial nerve injury during other types of extracranial surgeries where radical excisions are required