Case Study in 2010

Choi et al. describe the case of a 3 month-old infant who, on the second day of life, had begun to experience painful paroxysmal events starting with tonic contraction of the whole body followed by erythematous harlequin-type color changes. The patient was diagnosed as having paroxysmal extreme pain disorder. The condition was attributed to a mutation in the SCN9A gene, which encodes the voltage-gated sodium channel Na_V1.7.

Extreme hypoglycorrhachia is usually caused by bacterial meningitis; however, suspicion should be raised if a patient with persistent extreme hypoglycorrhachia, pleocytosis and negative microbiological studies remains refractory to antimicrobial therapy. Viola describes the case of a 55-year-old man with chronic leptomeningitis and persistent hypoglycorrhachia, who was found to have Currarino syndrome. This syndrome is a complex genetic disorder that includes the following triad: sacral bony defect, presacral mass, and an anorectal malformation. Leptomeningitis in this patient was attributed to cholesterol crystals contained in a large presacral cyst with a communicating fistula to the CNS.

Shaikh et al. describe the case of a 60 year-old woman with multiple sclerosis who presented to a vestibular clinic with head tremor and vestibular hypofunction. This combination of symptoms caused oscillopsia, a visual sensation of oscillation of stationary objects. On the basis of eye and head movement measurements, the patient was diagnosed with pseudonystagmus resulting from diminished compensatory vestibulo-ocular reflex responses to the head tremor.

Behavioral variant frontotemporal dementia (bvFTD) is characterized by a decline in social skills, emotions, personal conduct and self-awareness, that is indicative of frontal lobe degeneration. Facundo Manes and colleagues report on a case of a patient presenting with pathological gambling who went on to develop the typical syndrome of bvFTD. The authors discuss the importance of recognizing symptoms of bvFTD and raise issues about the legal implications of the diagnosis.

Spinazzi et al. describe a case of subacute sensory ataxia and bilateral optic neuropathy associated with thiamine deficiency in a patient with a history of partial gastrectomy. The patient responded well to supplementation with thiamine, showing rapid improvements in ability to walk and normalization of visual field perimetry 2 years after presentation.

In this article, Loy and colleagues examine the case of a woman with frontotemporal dementia who presented in the clinic with complex delusions. Psychosis is considered an unusual early feature of this form of dementia but, when present, can wrongly suggest a diagnosis of schizophrenia. In discussing the case, Loyet al. highlight the clinical features that might assist in the differentiation between these two conditions.