Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with "Round the Houses" Sign in a 29-Year-Old Woman.

A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism. A bone marrow biopsy showed an increased number of macrophages with foamy content, highly suggestive of lysosomal disease. Plasmatic chitotriosidase activity and CCL18 were increased. Genetic testing showed heterozygosis for the variation c.1070C→T (p.Ser357Leu) and c.1843→T (Arg615Cys), confirming the diagnosis of Niemann-Pick type C (NPC). The "Round the Houses" sign has only been described in patients with progressive supranuclear palsy (PSP). This sign is described as an inability to produce pure vertical saccades along the midline and instead moving the eyes in a lateral arc to accomplish the movement. The observation of this sign in a patient with NPC indicates that this bedside finding is not specific for PSP, but a sign of medial longitudinal fasciculus dysfunction. The presence of facial dystonia with facial grimacing together with supranuclear gaze palsy is highly characteristic and useful for the diagnosis of NPC. NPC is an important underdiagnosed condition, given the availability of treatment and a mean diagnostic delay of 6 years.

Intermediate scale for assessment of Parkinson's disease. Characteristics and structure.

The present study is devoted to the verification of the basic metrical characteristics of the ISAPD. One hundred and sixty-seven Parkinson's disease (PD) patients were included. Group A (n = 40) was simultaneously assessed by five raters who applied the ISAPD and other PD rating scales (PDRS). A set of timed tests, the MiniMental State Examination (MMSE) and the Hamilton Scale for Depression (HSD) were administered by an independent examiner. Group B (n = 127) was individually assessed through the UPDRS and the other PDRSs by separate neurologists in four different hospitals. The ISAPD was administered in 7.0 +/- 3.7 min. The internal consistency of this scale was high (Cronbach's alpha = 0.97). The inter-rater reliability of their items was very satisfactory (for all items, kappa > 0.70). There was a high correlation with the Hoehn and Yahr classification (r(s) = 0.71; p < 0.001) and some timed tests. The convergent validity with the other PDRS (UPDRS and Schwab and England Scale) was also very high (r(s) = 0.83-0.92; p < 0.001). The ISAPD also correlated with the MMSE and the HSD. Factor analysis identified three factors (activities of daily living; gait and mobility; speech and eating) that explained 76% of the variance. The ISAPD is an easy to apply, reliable, and valid scale that fulfills the aim for which it was designed.

[Cysticercosis and angiomatosis. Clinicopathological study of one case (author's transl)]. / Cisticercosis y angiomatosis. Estudio clinicopatológico de un caso.

This is a discussion of the clinical condition of a 49-year-old patient who had been presenting intermittent episodes of intracranial hypertension since the age of 9, at which time she suddenly began a serious psychic deterioration which impaired her normal intellectual development. A new episode of intracranial hypertension led to the emergency admittance to the medical center, and was the cause of death. The cerebral post mortem study showed a large ventricular dilatation and the existence of a translucent cysticercus of a lobular shape which was adhered by a fine filament ot the internal wall of the right ventricle, very near to Monro's foramen; the possibility, therefore, was attributed to it of having had the effect of a valve mechanism which might have been causing the crises and the intracranial hypertension. At the same time, it was also observed that there existed an angiomatosis at the level of the temporal lobe, which does not seem to be related to the process, especially because of its small area and the integrity of the blood vessels.