We describe the case of a 34-year-old man who presented intermittent faecal incontinence as a manifestation of cataplexy. The patient's sleep history was positive for the full narcoleptic tetrad (sleep attacks, cataplexy, sleep paralysis and hypnagogic hallucinations) while extensive neuropsychiatric work up was negative for any neurologic or psychiatric illness. Repeat polysomnograms (includin...

Sjögren's syndrome is a chronic autoimmune disorder characterized by lymphocytic infiltration of the lacrimal and salivary glands, leading to dryness of eyes (kerato-conjunctivitis sicca) and mouth (xerostomia). The skin lesions in Sjögren's syndrome are usually manifested as xeroderma, but sometimes appear as annular erythema or vasculitis. Central nervous system symptoms may be presented as o...

In rare cases restricted sensory deficits along the somatotopic topography of the spinothalamic tract can develop from a lateral medullary infarction. To our knowledge, isolated dermatomal sensory deficit as a single manifestation of a lateral medullary infarction has not been reported previously. A 58-year-old man presenting with sudden left-sided paresthesia complained of sensory deficit of p...

We report the case of an 8-days-old patient with linear rows of vesiculobullous lesions from birth. Along with these lesions, the neonate had eosinophilia, which made us arrive to the clinical diagnosis of Incontinentia Pigmenti. Incontinentia Pigmenti or Bloch Sulzberger disease is a multisystemic neuroectodermal disorder that affects mostly women, which includes as initial manifestation cutan...

Introduction Antiphospholipid syndrome (APS) is characterized by venous or arterial thrombosis and/or fetal losses, in the presence of one or more types of antiphospholipid antibodies (aPL) (Anitcardiolipin antibodies (ACA), lupus anticoagulant (LA) or anti beta 2-glycoprotein I (b2GPI). Information about APS in juvenile patients is limited and reports showed some differences between the clinic...

We report a case of essential thrombocythemia, the only clinical manifestation of which consisted of neurologic symptoms, including anomic aphasia, tactile and painful hypesthesia in the right hand, headache, and Gerstmann syndrome, with a relatively benign and slowly progressive clinical course. Neuroradiologic examination disclosed a large ischemic area in the left temporoparietal region. Cer...

DOWN syndrome (DS) is the most common chromosomal disorder, occurring in 1 of every 600–800 births. It is characterized by mental retardation, as well as craniofacial, upper airway, cardiovascular, and gastrointestinal anomalies. One manifestation of DS relevant to anesthesiologists is upper cervical spine instability produced by ligamentous laxity, skeletal anomalies, or both. This instability...

Adolescent idiopathic scoliosis (AIS) is a frequent disease but its etiology remains unknown. Gender prevalence in females is already known and there are many suggested hypotheses to explain its origin and manifestation, like associated neurologic, muscular and connective tissue disorders. Literature reports have tried to analyze disease prevalence in selected populations, possible ways of inhe...

A 19-year-old man presented with a rapidly growing right craniofacial lump and headache for 9 days, with vision loss in the right eye and no other manifestation of neurofibromatosis or neurologic disturbance. Imaging revealed a giant lesion with intratumoral hematoma and adjacent bone dysplasia (figure, A and B). The tumor and the involved right eye (figure, C) were removed following preoperati...

Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individ...