Unusual Hand Deformity in Parkinson's Disease.

We describe two patients with prominent hand deformities attributable to Parkinson's disease. This uncommon condition, which mimics inflammatory arthritis, can be hard to diagnose and is disabling. As these two cases illustrate, hand deformities attributable to Parkinson's can be a late complication of the disease or present in the early stage as initial symptomatology.

The frequency and diagnostic accuracy of hand deformities in Parkinson's disease.

Hand deformities are well-known abnormalities observed in patients with Parkinson's disease (PD). We determined the frequency and diagnostic accuracy of hand deformities in PD. We studied 44 consecutive patients with PD, 44 age- and gender-matched normal controls and 22 patients with essential tremor (ET). By means of photographs taken in both hands of all participants, the degree of metacarpophalangeal (MCP) joint flexion was quantified by software and by blinded evaluations using a semiquantitative scale from the radial aspect, we grouped hands into four grades. The presence of classical striatal hand deformity (CSHD), defined as MCP joint flexion, proximal interphalangeal joint extension and distal interphalangeal joint flexion was also evaluated. Patients with PD had a higher frequency of MCP joint flexion and CSHD compared to normal controls and patients with ET. Mean MCP joint flexion was higher in both hands in patients with PD: 20.8° vs. normal controls (3.3°-3.9°) and patients with ET (2.8°-6.3°), P = 0.001. Concordance between evaluators for MCP joint flexion was fair: κ = 0.34 (P < 0.001), but poor for CSHD: κ = 0.142-0.235 (P < 0.05). A right hand MCP joint flexion of 12.5° and left hand of 10.5°, showed similar sensitivity (0.70) and specificity (between 0.75 and 0.80) than any degree of MCP joint flexion for the diagnosis of PD. CSHD had a sensitivity (0.60-0.80) and specificity (0.78-0.98) for the diagnosis of PD. Hand deformities are commonly observed in patients with PD, they may aid in the diagnosis of PD when compared to normal controls and patients with ET.

Síndrome de Klippel-Feil con fistula traqueoesofagica, pulgar bifido y angiolipoma cerebral / Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma

El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y visceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.

[Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma.] / Síndrome de Klippel-Feil con fístula traqueoesofágica, pulgar bífido y angiolipoma cerebral.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.

El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y vísceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000 nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.

Pollicization of the index finger requiring secondary fusion of the new metacarpophalangeal joint.

In children with absent thumbs, some authors have stated that 'relative' contraindications of pollicization include severe fixed flexion contracture and instability of the proximal interphalangeal joint of the index finger. The current author does not consider severe proximal interphalangeal joint deformities of the index finger as a contraindication to pollicization; and hence these children are offered the procedure. A literature review did not reveal any study that specifically documents the outcome of pollicization in these cases. The current series included five children: four with severe (over 80°) fixed flexion contracture of the proximal interphalangeal joint of the index finger and one with instability of the proximal interphalangeal joint. All children were initially assessed during infancy at their local hospitals and the parents were informed that a pollicization procedure would yield a poor outcome. Presentation to the author was relatively late at a mean of 9.3 years (range 2.5-12). All children underwent two surgical procedures: a pollicization followed by fusion of the new metacarpophalangeal joint. The overall early functional outcome was good and all children/parents were satisfied with the procedure. These encouraging results warrant a prospective long term study on various conditions that are considered as 'relative' contraindications to the pollicization procedure.Level evidence: IV Therapeutic (case series).

Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.

A utilização da tecnologia assistiva para alimentação na melhora do desempenho ocupacional de hansenianos com mão em garra / Feeding using assitive technology in the improvement of occupational performance of leprosy patients with claw hand

A hanseníase é uma doença infecciosa crônica, granulomatosa, de curso lento, causada pelo Mycobacterium Leprae. A doença causa lesões na face, mãos e pés, que podem gerar incapacidades físicas severas que contribuem para a instalação de padrões deformantes e incapacitantes. A lesão do tipo mão em garra é uma sequela que pode ser observada em pacientes com lesões ao nível dos membros superiores sendo muito incapacitante, dificultando a realização das Atividades de Vida Diária destes indivíduos e consequentemente prejudicando sua qualidade de vida e satisfação pessoal. A intervenção terapêutica ocupacional utilizando a tecnologia assistiva de baixo custo para auxílio nas atividades de vida diária de pacientes com mão em garra objetiva a minimização dos déficits motores e de destreza manual. Desse modo, este estudo objetiva demonstrar a autopercepção dos pacientes acerca da melhora do seu desempenho na atividade de alimentação após uso da adaptação funcional. Efetuou-se aplicação do protocolo da Medida Canadense de Desempenho Ocupacional antes e após 10 intervenções de treino com adaptação para atividade de alimentação para avaliar a autopercepção de 20 pacientes sobre o desempenho e satisfação com a realização da Atividade de Vida Diária, observou-se que os quesitos apresentaram índices de melhora com aumento dos graus de independência, o material proposto e utilizado no estudo mostrou-se adequado para a confecção das adaptações desenvolvidas, proporcionando redução de custos, conforto e higienização. As adaptações desenvolvidas no presente estudo demonstraram resultados favoráveis, obtidos através da análise dos dados finais que apontaram significância estatística.

Leprosy is a slow course, chronic, granulomatous infectious disease caused by Mycobacterium leprae. Leprosy is a slow course, chronic, granulomatous infectious disease caused by Mycobacterium leprae. Leprosy is a slow course, chronic, granulomatous infectious disease caused by Mycobacterium leprae. The disease causes lesions on face, hands and feet,which can generate severe physical disabilities that contribute to the installation of deformities and disabling patterns. The claw hand type lesion is a sequel observed in patients with upper limbs lesions. It can be very disabling, making it difficult to the individuals to carry out their Daily Living Activities which impairs their quality of life and personal satisfaction. The occupational therapy intervention using low cost assistive technology to aid in daily living activities of patients with claw hand aims at minimizing motor and manual dexterity deficits. Thus, this study aims to demonstrate the self perception of patients about improving their feeding performance activity after use of functional adaptation. We conducted the Canadian Model of Occupational Performance protocol before and after 10 training interventions with adaptation to feeding activity to evaluate the perception of 20 patients on the Performance and Satisfaction with the performance of Daily Living Activities. It was observed that the variables showed improved indices with increase in the independence levels. The material proposed and used in this study showed to be adequate to the confection of the adaptations that were developed, which promoted reduction of costs. The adaptations developed in this study showed favorable results with statistical significance, obtained through analysis of the final data.

Manifestations of hereditary multiple exostoses.

The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone growth. Although exostoses are benign lesions, they are often associated with characteristic progressive skeletal deformities and may cause clinical symptoms. The most common deformities include short stature, limb-length discrepancies, valgus deformities of the knee and ankle, asymmetry of the pectoral and pelvic girdles, bowing of the radius with ulnar deviation of the wrist, and subluxation of the radiocapitellar joint. For certain deformities, surgery can prevent progression and provide correction. Patients with hereditary multiple exostosis have a slight risk of sarcomatous transformation of the cartilaginous portion of the exostosis.

Mobius sequence--a Swedish multidiscipline study.

Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.

Glypican 1 gene: good candidate for brachydactyly type E.

In this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E.

Campodactilia en pacientes con diabetes mellitus insulinodependiente / Campodactilla in patients with diabetes mellitus type none

Objetivo. Describir la frecuencia de campodactilia y sus principales características clínicas y radiológicas. Diseño. Estudio clínico, descriptivo. Población. Setenta y cinco pacientes. Metodología. Se estudió durante un tiempo establecido a los pacientes entre 1 y 18 años de edad que asistieron a la Consulta Externa de Endocrinología. Los pacientes fueron evaluados clínicamente y aquellos que presentaron signos sugestivos de campodactilia se evaluaron radiológicamente., Resultados. El 24 por ciento presentó campodactilia, siendo el sexo más afectado el femenino (66.6 por ciento) y el grupo de edad más afectado los mayores de 12 años (44.4 por ciento). Los dedos más afectados fueron el meñique (55.5 por ciento) y el anular (5.5 por ciento). Conclusiones: Es indispensable el diagnóstico temprano para prevenir limitaciones severas de la movilidad articular y como pronóstico en el aparecimiento de las complicaciones microvasculares de la diabetes

Prevalence of mutilans-like hand deformities in patients with seropositive rheumatoid arthritis. A prospective 20-year study.

This study examined radiographically the prevalence of arthritis mutilans hand deformities in an inception cohort of 68 rheumatoid arthritis (RA) patients. Hand deformities of 103 RF-positive RA patients were evaluated after 8 years, 83 patients after 15 years and 68 patients 20 years after entry. The grade of destruction in the hand joints was assessed by the Larsen method and Larsen scores of 0-50 were determined for both PIP (+IP) and MCP joints. At the end point, 3 patients had Larsen scores > or =40 for both PIP and MCP joints. These three patients had severe resorption in most of the finger joints, but did not demonstrate classical opera-glass hand. The prevalence of mutilans-like hand deformities with RA was 3/68 (4.4%) in a prospective 20-year study.

[Psychogenic spastic hand]. / La main spastique psychogène.

Twelve patients seen over a 8-year period with psychogenic spasms of the hand are reported. Six elderly patients presented with extrinsic flexion of the two or three medial fingers with sparing of the thumb and index. Six other patients had various hand attitudes following coincidental but not causal trauma to the upper extremity. Because of the differences in clinical presentation, age of patients and coincident trauma in some cases, the former patients were characterized as type I psychogenic spasms and the latter as type II. A major recurrent depression was the commonest psychiatric diagnosis (DSM-III-R, Axis I) with a concurrent dependent or borderline personality (DSM-III-R, Axis II). The diagnosis of psychogenic spasm of the hand is a diagnosis of exclusion, that requires a multidisciplinary approach including surgeon, neurologist, psychiatrist and rehabilitation therapist. Electromyographic studies are used to rule out a neurological or muscular etiology of the condition. Surgical treatment was uniformly unsuccessful and is probably contraindicated. Only one patient had a nearly complete spontaneous recovery.

[Dominant symphalangism and conductive hearing loss]. / Symfalangizm proksymalny i niedosluch przewodzeniowy.

Dominant symphalangism in three generations is presented in this paper. Conductive hearing loss of 14 year old male patient with proximal symphalangism was due to fixation of the stapes.