by Noha Abdelfattah Ahmed Madkour
Case Report
Wilson’s disease is a worldwide inherent gene disorder leads to copper deposition in various tissues. Recently, wilson’s disease is classified according to onset of symptoms into early-onset and late-onset wilson. Reported a 56-year-old male patient presenting with dysarthria and dyskinesia. Laboratory tests revealed elevated urinary cupper without elevation of liver function tests. Magnetic resonance imaging of the brain was performed and revealed typical bilateral putamena and midbrain tegmental T2 hyperintensity “Face of giant Panda” sign which are reliable imaging features of wilson’s disease and the case represents a late-onset type. Medical treatment was prescribed for the patient with regular follow up.
American Journal of Medical Case Reports. 2018, 6(3), 55-57. DOI: 10.12691/ajmcr-6-3-5
Pub. Date: April 26, 2018
11116 Views2828 Downloads
by Ines Kechaou, Imene Boukhris, Eya Cherif, Samira Azzabi, Lamia Ben Hassine and Narjess Khalfallah
Case Report
We report an uncommon multimetameric presentation (L3, L4 and L5) of zoster with paresis in a 56-year-old-immunocompromised woman with past history of systemic lupus erythematosus. She was treated previously by immunosuppressive therapy with several infectious complications.
American Journal of Medical Case Reports. 2018, 6(3), 53-54. DOI: 10.12691/ajmcr-6-3-4
Pub. Date: April 25, 2018
7669 Views1967 Downloads
by Batista Rafael Loch, Toscanini Andrea Cecilia, Borba Clarissa Groberio and Cunha-Neto Malebranche B
Original Research
Hypopituitarism is the partial or complete insufficiency of pituitary hormone secretion. It has a diverse etiology, and some causes are of vascular origin. Vascular causes of hypopituitarism are classified as hemorrhagic/ischemic or obstructive/compressive. We report the case of a patient with chronic hypopituitarism found 15 years after the occurrence of hypovolemic shock during surgery performed to remove nasal polyps. We believe that hypopituitarism in this case is very similar to that described by Sheehan, resulting from blood loss and coagulation disorders. Observation of pituitary function in patients with a history of hypovolemic shock may be necessary, as it is mandatory in patients with a history of postpartum bleeding.
American Journal of Medical Case Reports. 2018, 6(3), 50-52. DOI: 10.12691/ajmcr-6-3-3
Pub. Date: April 24, 2018
7262 Views2210 Downloads
by Zahra Janamiri, Yousef Moghimi Boldaji and Fardis Mosayebian
Original Research
Introduction: Multiple sclerosis (MS) is an autoimmune inflammatory condition which attacks and demyelinate central nervous system neurons with variable degree which causes significant disability in these patients. In this study, we plan to investigate ocular manifestation and prevalence of these symptoms in patients diagnosed with MS. Methods: We have enrolled 100 patients with confirmed diagnosis of MS, in a retrospective study from neurology clinic of a private hospital in Tehran, from 2015 to 2016. We have reviewed the thorough neurological examination and visual assessment of these patients. Also, demographic data of these patients were recorded for further analysis. We have performed statistical analysis using SPSS version 16 and Stuent T-test and Chi-square test for variables analysis. Results: Of all patients, 85 cases were female and 15 were male, with mean age of 35.2 years. We have found atrophy of the disc followed by optic neuritis in 32% and 19% respectively. Also, retrobulbar neuritis and papillitis were among less common manifestations, counting as 13% and 8% respectively. Most of the ocular manifestation were consistent with some demographic and geographic factors, such as age (most common in patients under 34 years old), female gender and patients not living in city areas. Also, patients with their disease initially started less than 22 years showed increased frequency of nystagmus and optic disc atrophy, while defect in color vision were more common in patients with initial disease initiation after 22 years old (P value < 0.05). Conclusion: Patients with MS may have various presentations of neurological abnormalities, which ocular manifestations is one of the most important and initial warning signs. We have found that optic disc atrophy and optic neuritis are among the most common presentations of MS, and neurologists should consider demographic and geographic parameters of patients.
American Journal of Medical Case Reports. 2018, 6(3), 47-49. DOI: 10.12691/ajmcr-6-3-2
Pub. Date: April 21, 2018
6374 Views1677 Downloads
by Zahra Janamiri, Vahid Shahmaei and Fariborz Faeghi
Original Research
Introduction: Neurofibromatosis type 1 (NF1) or von Recklinghausen’s disease, is a rare multi-system genetic disorder caused by the mutation of a gene on chromosome 17 which is responsible for synthesis of a protein called neurofibromin and it can cause various neoplasms. Also, Neurofibromatosis type 2 (NF2) is a genetic disorder caused by mutation of Merlin gene, responsible for production of neurofibromin 2 or schwannomin, a cyto-skletal protein. In this study, authors plan to investigate the distribution of these neoplasms and their features on Magnetic Resonance Imaging (MRI). Materials and Methods: From July 2013 to October 2017, we have prospectively enrolled 36 patients with confirmed diagnosis of either NF1 or NF2 based on clinical criteria and post-operative histological examination, to our study and we have performed target-focused imaging, targeting mostly intracranial cavity and spine, and other organs based on patients symptoms to assess the prevalence of neoplasms associated with NF1 and NF2. Also, we have performed specific tests to determine and follow-up the complications of NF1 and NF2, being Electromyography (EMG) and Nerve Conduction Velocity (NCV) for possible spinal cord lesion evaluation and perimetry for evaluation of optic nerve and chiasma lesions in NF1, and audiometry for evaluation of acoustic neuroma and hearing disability in NF2 patients. Results: There were 36 patients, being 20 females and 16 males within 14-40 years old range. NF1 patients comprise 22 cases, being 12 females and 10 males with mean age of 25.7 years and NF2 patients comprise 14 cases, being 9 females and 5 males with mean age of 23.8 years. Perimetry showed affected visual field in 10 patients and neurological examination and EMG-NCV study revealed paresthesia and weakness in upper extremities in 6 patients. Also, audiometry revealed affected hearing pattern in 13 patients. MRI study in NF1 cases revealed Unidentified Bright Objects (UBO) in 15 cases, followed by optic nerve and optic chiasma glioma in 12 cases, spinal cord lesion being as cervical spinal neurofibromas in 6 patients and deep visceral and abdominal plexiform neurofibromas in 4 patients. Moreover, MRI examination in NF2 patients showed bilateral acoustic neuromas in all 14 cases, meningiomas in 9 cases and epenymoma in 2 patients. Also, histopathological examination of removed tissues in surgical candidates or patients with intermediate certainty of diagnosis, confirmed either neurofibromatosis. Conclusion: Although being rare, neurofibromatosis, whether type 1 or type 2, may cause devastating complications and sequel to the affected patients and in some instances; they may manifest themselves as uncommon lesions in neuro-imaging without other visible criteria for the disease. In this study, authors have investigated the possible lesions in association with NF1 and NF2, and incidental finings of these lesions in neuro-imaging or visceral imaging should prompt the suspicion for underlying phakomatosis such as neurofibromatosis.
American Journal of Medical Case Reports. 2018, 6(3), 43-46. DOI: 10.12691/ajmcr-6-3-1
Pub. Date: April 16, 2018
6574 Views1835 Downloads