Discondrosteosis de Léri-Weill. Presentación de una familia afectada / Léri-Weill dyschondrosteosis. Presentation of an affected family

RESUMEN Fundamentación: La discondrosteosis de Léri-Weill, displasia ósea de origen genético que afecta la región mesomélica con acortamiento de las extremidades, provoca talla baja con extremidades cortas con deformidad de Madelung; esta enfermedad muestra un patrón de herencia autosómico dominante con alta penetrancia. Objetivo: Describir las deformidades de esta discondrosteosis de baja frecuencia con expresividad variable, que se presentó de la misma forma en todos los afectados de esta familia. Presentación de caso: Se reportó una familia con enfermos en tres generaciones con deformidad de Madelung de ambas muñecas y baja estatura de origen mesomélico, que se mantiene seguimiento en consultas de Genética Clínica y Ortopedia. Conclusiones: El examen físico y radiológico imprescindibles para llegar al diagnóstico clínico. El método clínico y la valoración multidisciplinaria resultaron de gran valor para definir esta enfermedad y poder brindar un adecuado asesoramiento genético a esta familia.

ABSTRACT Background: Léri-Weill dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causes short stature with short extremities with Madelung deformity.This disease shows an autosomal dominant inheritance pattern with high penetrance. Objective: To describe the deformities of this low frequency dyschondrosteosis with variable expressivity which was presented in the same way in all those affected in this family. Case presentation: A family with sick members was reported in three generations with Madelung deformity of both wrists and short stature of mesomelic origin which is followed up in consultations of Clinical Genetics and Orthopedics. Conclusion: The essential physical and radiological examination to reach the clinical diagnosis. The clinical method and the multidisciplinary assessment were of great value to define this disease and to be able to provide adequate genetic counseling to this family.

Ultrasonographic Findings of Carpal Tunnel Syndrome

PURPOSE: To describe the ultrasonographic (US) findings of carpal tunnel syndrome (CTS) and to evaluate the diagnostic value of US in CTS. MATERIALS AND METHODS: Forty-four wrists of 26 patients aged 35 to 67 (mean, 52) years with CTS who were electrophysiologically diagnosed, and 30 wrists of 15 normal control subjects aged 33-62(mean, 48 years) were studied using US with a 7.5MHz linear transducer. Axial images of these wrists in the neutral position were obtained at the level of the distal radius, pisiform, and hook of hamate. The following measurements were taken: at each level, cross sectional area (CSA) and flattening ratio (FR) of the median nerve; at the hamate level, bowing of the flexor retinaculum (palmar displacement: PD); during passive flexion and extension of the index finger, transverse sliding of the median nerve. RESULTS: CSA at each level was significantly higher in patients than in controls (p=0.0001): 9.29 +/-2. 63 mm 2(mean +/-S.D.) vs 5.45 +/-1.98 mm 2 at the distal raidus; 10.68 +/-3.38 mm 2 vs 6.55 +/-2.01 mm 2 at the pisiform; 1 0 . 8 8 +/-2.78 mm2, vs 6.34 +/-2.00 mm2 at the hamate. FR was significantly higher in patients(2.37+/-0.56) than in controls (2.06 +/-0.36) only at the level of the hamate (p=0.0064). In additi on, PD of the flexor retinaculum was also significantly higher in patients (3.44 +/-0.90 mm) than in controls (2.20 +/-0.55mm) (p=0.0001). The sliding distance of median nerve during passive flexion and extension of the index finger was, however, significantly lower in patients (0.98 +/-1.03 mm) than in controls (1.65 +/-1.22 mm) (p=0.0180). CONCLUSION: For the diagnosis of CTS, US proved useful. Significant ultrasonographic findings in CTS were swelling of the median nerve, increased flattening ratio of the median nerve at the distal carpal tunnel, increased bowing of the flexor retinaculum, and decreased mobility of the median nerve during motion of the index finger.

Verification of the Reliability of Sagittal MR Images in Assessment of Segmental Instability of the Wrist

PURPOSE: To determine the reliability of carpal angle measurement using sagittal wrist MR images for thediagnosis of dorsal intercalated segmental instability (DISI) or ventral intercalated segmental instability(VISI). MATERIALS AND METHODS: In ten asymptomatic adult volunteers, capitolunate, scapholunate, and radiolunate angleswere measured on lateral radiographs and five different series of sagittal MR images, and compared andstatistically analysed. The four MR series, obained in a prone position, with the wrists over the head, were asfollows : A, sagittal images parallel to the third metacarpal bone axis, in a neutral position ; B, obliquesagittal images parallel to the fourthe metacarpal axis, in a neutral position, ; C and D, sagittal imagesparallel to the third metacarpal bone axis, with the wrist at 15degree radially and ulnarly deviated positions,respectively. The fifth true sagittal MR image (E) was obtained in a supine position with the wrists locatedbeside the trunk, in a neutral position. RESULTS: In the MR series performed in the prone position, thecapitolunate and radiolunate angles measured in the series A, B and D were significantly larger than those seen onlateral radiographs. The scapholunate angle showed a statistically significant difference(p=.014) in series D,where one case showed DISI configuration at a scapholunate angle of 81degree. In other series, the angles were notsignificantly different from those seen on lateral radiographs. CONCLUSION: The lunate appears more dorsallytilted on sagittal MR images obtained in the prone position with the wrists above the head than on lateralradiographs, and a DISI configuration can be minicked. IF diagnosing wrist segmental instability by interpretingsagittal MR images without lateral radiographs, there is potential risk of misdiagnosis. It is believed that wristpositioning is crucial for the correct measurement of angles.