R.P. Munhoz

Evaluation of the pull test technique in assessing postural instability in Parkinson’s disease

Variability in pull test (PT) performance can lead to inadequate evaluation of postural instability in patients with Parkinson’s disease (PD). Assessing 66 PTs by 25 examiners, at least two of four raters agreed that specific items were performed incorrectly for stance in 27.3%, for strength and briskness of the pull in 84.9%, for examiner’s response in 36.4%, and for technique issues in 9.1%. Examiners were consistent in their errors, and only 9% of examinations were error-free.

Psychogenic Facial Movement Disorders: Clinical Features and Associated Conditions

The facial phenotype of psychogenic movement disorders has not been fully characterized. Seven tertiary‐referral movement disorders centers using a standardized data collection on a computerized database performed a retrospective chart review of psychogenic movement disorders involving the face. Patients with organic forms of facial dystonia or any medical or neurological disorder known to affect facial muscles were excluded. Sixty‐one patients fulfilled the inclusion criteria for psychogenic facial movement disorders (91.8% females; age: 37.0 ± 11.3 years). Phasic or tonic muscular spasms resembling dystonia were documented in all patients most commonly involving the lips (60.7%), followed by eyelids (50.8%), perinasal region (16.4%), and forehead (9.8%). The most common pattern consisted of tonic, sustained, lateral, and/or downward protrusion of one side of the lower lip with ipsilateral jaw deviation (84.3%). Ipsi‐ or contralateral blepharospasm and excessive platysma contraction occurred in isolation or combined with fixed lip dystonia (60.7%). Spasms were reported as painful in 24.6% of cases. Symptom onset was abrupt in most cases (80.3%), with at least 1 precipitating psychological stress or trauma identified in 57.4%. Associated body regions involved included upper limbs (29.5%), neck (16.4%), lower limbs (16.4%), and trunk (4.9%). There were fluctuations in severity and spontaneous exacerbations and remissions (60%). Prevalent comorbidities included depression (38.0%) and tension headache (26.4%). Fixed jaw and/or lip deviation is a characteristic pattern of psychogenic facial movement disorders, occurring in isolation or in combination with other psychogenic movement disorders or other psychogenic features.

Parkin-proven disease Common founders but divergent phenotypes

Objective: To compare and contrast clinical and genetic findings in six probands with parkinsonism with a parkin exon 3 438- to 477-bp deletion (Ex3Δ40) to search for evidence of a common founder. Method: Clinical review, parkin gene sequencing, dosage studies, and high-resolution genotype/haplotype analysis were performed. Results: All subjects had two or more signs consistent with a diagnosis of possible or probable PD with age at onset younger than 45 years (mean ± SD 29.3 ± 10.2 years, range 16 to 42 years). Affected individuals were either homozygotes, compound heterozygotes, or Ex3Δ40 carriers with one normal parkin allele. Haplotype analysis revealed both Ex3Δ40 and Ex7 924 C→T (R275W) mutations originated from common founders, the former most probably of Irish descent. Although three cases had Ex7 924 C→T (R275W) and Ex3Δ40 mutations, their clinical presentation and mode of inheritance were variable. Conclusion: Parkin mutations on common parkin haplotypes provide testable hypotheses of parkin function in genetically defined parkinsonism.

Pancreatite necro-hemorrágica fatal associada ao uso de valproato de sódio: relato de caso

Among the idiosyncratic reactions related to VPA, pancreatitis is the most rare and less remembered eventhough its potentially fatal course. We report the case of a 5 year-old boy with epilepsy treated with VPA 40 mg/kg/day associated with CBZ 20 mg/kg/day and PB 3 mg/kg/day, admitted for vomiting, abdominal pain, low grade fever, abdominal tension and amylasis of 288 UI. On evolution presented upper digestive hemorrhage, shock and amylasis of 564 UI. The patient was submitted to exploratory laparotomy with findings of hemorrhagic ascitis, retroperitoneal hematoma, increased volume of pancreas with edema and hemorrhage leading to diagnosis of necro-hemorrhagic pancreatitis and a fatal course. Pancreatic complications are well known complications related to VPA treatment and may vary between asymptomatic hyperamilasemy to fatal acute pancreatitis. The characteristics of our patient correlates with the data on literature: we found 7 similar cases reported, 4 of which died.