The locked-in syndrome: The early French descriptions.

The classic 1966 description of locked-in syndrome was performed by Plum and Posner. Here, we revisit the world's first case report of this condition, which was presented in 1875 by Camille Darolles, an intern supervised by François Damaschino, at a monthly meeting of the Société Anatomique de Paris chaired by Jean-Martin Charcot. We also review the fascination of classic writers with this syndrome, including Alexandre Dumas, a genius of literature and known admirer of the medical sciences who, in the book "The Count of Monte Cristo" published in 1846, described a character with this condition.

Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers.

OBJECTIVES: Using a family study design, we describe the motor and nonmotor phenotype in probands with LRRK2 G2019S mutations and family members and compare these individuals to patients with idiopathic Parkinson disease (iPD) and unrelated controls. METHODS: Probands with G2019S mutations and their first-degree relatives, subjects with iPD, and unrelated control subjects were identified from 4 movement disorders centers. All underwent neurologic examinations and tests of olfaction, color vision, anxiety, and depression inventories. RESULTS: Tremor was more often a presenting feature among 25 individuals with LRRK2-associated PD than among 84 individuals with iPD. Subjects with LRRK2-PD had better olfactory identification compared with subjects with iPD, higher Beck Depression Inventory scores, and higher error scores on Farnsworth-Munsell 100-Hue test of color discrimination. Postural or action tremor was more common among 29 nonmanifesting mutation carriers compared with 53 noncarriers within the families. Nonparkinsonian family members had higher Unified Parkinson's Disease Rating Scale motor scores, more constipation, and worse color discrimination than controls, regardless of mutation status. CONCLUSIONS: Although tremor is a more common presenting feature of LRRK2-PD than iPD and some nonmotor features differed in degree, the phenotype is largely overlapping. Postural or action tremor may represent an early sign. Longitudinal evaluation of a large sample of nonmanifesting carriers will be required to describe any premotor phenotype that may allow early diagnosis.

Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium.

Spinocerebellar ataxia type 10 is an autosomal dominant neurodegenerative disorder. It was initially described in Mexican families presenting with ataxia and epilepsy, with or without polyneuropathy, pyramidal signs and cognitive symptoms. The authors report three patients from the same family who were asymptomatic until gestation and puerperium, when they developed symptoms and signs suggestive of the syndrome. Genetic diagnosis was made in the three patients. The authors hypothesize that hormonal changes are likely to influence the manifestation of the condition.

Where was Joseph Babinski born? / Onde Joseph Babinski nasceu?

There is controversy in the neurological literature about where Joseph Babinski was born, including a myth propounded by various important authors that he was born in Lima, Peru. However, according to the most consistent biographical data, he was in fact born in Paris, France, and became a medical celebrity there and in Poland as well as around the world.

Existe uma controvérsia na literatura neurológica acerca do local de nascimento de Joseph Babinski, incluindo a lenda nutrida por vários autores de importância, de que ele teria nascido em Lima no Peru. Contudo, os dados biográficos mais consistentes definem que ele nasceu de fato, na cidade de Paris, França, tornando-se uma celebridade da medicina francesa, polonesa e mundial.

Fungal encephalitis following bone marrow transplantation: clinical findings and prognosis.

BACKGROUND: Central nervous system fungal infections (FI) are important complications and a cause of mortality in patients who receive hematopoietic stem cell transplantation (HSCT). AIMS: To study the clinical aspects of fungal encephalitis (FE). SETTINGS AND DESIGN: The study was carried out at the HSCT Center of the Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil. MATERIALS AND METHODS: Clinical records and autopsy reports from patients submitted to HSCT with a diagnosis of FE. RESULTS: Twelve patients were diagnosed with FE presenting with lowered level of consciousness, hemiparesis and seizures. We were able to identify two subgroups regarding susceptibility to FE: (1) patients with early onset FI and severe leucopenia, and (2) patients with later onset FI with graft-versus-host disease using immunosuppressive drugs. Eleven of the patients died directly due to the neurological complication, all had post-mortem confirmation of the diagnosis of FI. CONCLUSIONS: These clinical, paraclinical and temporal patterns may provide the opportunity for earlier diagnosis and interventions.

Movement disorders in patients taking anticonvulsants.

BACKGROUND: A wide variety of movement disorders may occur as a consequence of the administration of antiepileptic drugs (AEDs). Although it has been suggested that the risk of parkinsonism is 10-fold higher in those taking valproate as compared with other AEDs, there have been no large, systematic trials assessing this. AIM: To establish more precisely the prevalence of and risk factors for developing parkinsonism associated with valproate use,and to assess the occurrence of movement disorders with the newer AEDs. METHODS: Patients with epilepsy were recruited from the Toronto Western Hospital Epilepsy Clinic (University of Toronto, Toronto, Ontario, Canada). Each patient was examined by a movement disorder specialist who was blinded to the treatment status of the patient. RESULTS: 201 patients were included. Postural tremor was the most common movement disorder (45%), followed by parkinsonism (4.5%). The odds of having parkinsonism were 5 times higher with valproate than with other AEDs. No single factor predicted the presence of parkinsonism; however, many (5/9) of the patients concurrently used other drugs or had comorbidities that could have caused or exacerbated parkinsonism. None of the newer AEDs were clearly associated with the presence of movement disorders; however, the numbers were too small to make a formal analysis. CONCLUSION: Although the risk of parkinsonism with valproate is higher than with other AEDs, it is lower than originally reported. The cases available were not enough to accurately comment on the prevalence of movement disorders with the newer AEDs.

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.

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 (Ex3Delta40) 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 Ex3Delta40 carriers with one normal parkin allele. Haplotype analysis revealed both Ex3Delta40 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 Ex3Delta40 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.

[Fatal necro-hemorrhagic pancreatitis related to sodium valproate: case report]. / 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 even though 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.

[Sturge-Weber syndrome: differential diagnosis of neurocysticercosis]. / Síndrome de Sturge-Weber. Diagnóstico diferencial de la neurocisticercosis.

INTRODUCTION: The Sturge-Weber syndrome is characterized by facial cutaneous angioma associated with leptomeningeal and cerebral angioma, typically ipsilateral to the facial lesion, which is accompanied by convulsions, mental retardation, contralateral hemiparesia, hemiatrophy, homonymous hemianopsia and glaucoma. Most of the patients with radiographic evidence of intracranial angioma develop convulsive crises, but only half have severe mental retardation. The image of calcification on cranial tomography often leads to confusion in diagnosis, especially with neurocysticercosis, particularly in places where this is endemic and the patients present with minimal skin lesions or these are at atypical sites. CLINICAL CASE: We present the case of a 13 year-old boy hospitalized with status epilepticus who, since the age of 1 year and 3 months, had had convulsive seizures which were of generalized tonic-clonic type and partially complex with secondary generalization, treated with carbamazepine at a dose of 400 mg per day. Neurocysticercosis was diagnosed on a tomogram showing calcification of the left parieto-occipital gyrus. Following physical examination and complementary tests the diagnosis of Sturge-Weber syndrome was made. CONCLUSION: We emphasize the importance of the diagnosis of Sturge-Weber syndrome, its clinical picture and treatment.