Fahr’s disease: a rare degenerative disorder presenting with psychosis: a case report

Background: Fahr’s syndrome (or Fahr’s disease) is a rare idiopathic degenerative disorder, characterized by bilateral symmetrical intracranial calcification and manifested as movement disorders, dementia and other behavioural disturbances. Case description: A 50-year-old male with long standing seizure disorder with intact motor and cognitive function presented with behavioural disturbances. Brain CT showed symmetrical calcification in cerebral hemispheres involving caudate nucleus, internal capsule, adjoining area and cerebellum. The history, clinical and radiological features and exclusion of other possibilities in our case point towards this uncommon disorder. Discussion: A substantial number of patients with Fahr‘s disease present with behavioural disturbances. Usually late onset Fahr’s disease with behavioural disturbances is accompanied by cognitive and motor abnormalities. However, in our case no such neurocognitive abnormalities were found along with the behavioural disturbances in the form of psychosis inspite of widespread intracranial calcification. Conclusion: Psychosis may be the sole presentation in a case of late onset Fahr‘s disease. Key message: Psychiatrist and Neurologist should remain vigilant regarding this uncommon presentation of this degenerative disease.

Significance of Mal-alignment after Anterior Cervical Arthrodesis in Degenerative Cervical Spinal Disorders / 대한정형외과학회잡지

PURPOSE: The purpose of this study was to analyze the risk factors for postoperative sagittal mal-alignment after anterior cervical arthrodesis resulting from degenerative cervical disorders and its effect on radiological and clinical results. MATERIALS AND METHODS: We evaluated 50 patients who underwent anterior cervical arthrodesis for degenerative cervical disorder retrospectively. We assigned 25 patients who had sagittal mal-alignment after surgery to group A and 25 patients who had improvement of lordosis after surgery to group B. We evaluated the change of cervical lordosis, lordosis at fused segments, and lordosis at unfused segments. In addition, we evaluated radiological and clinical results. RESULTS: In group A, postoperative cervical lordosis worsened from 12.7+/-10.6 to 3.6+/-6.2degrees after surgery (p=0.002), but had recovered to 12.2+/-9.5degrees by the last Follow-up (p=0.859). In group B, cervical lordosis was improved from 9.6+/-10.5degrees to 22.5+/-9.7degrees (p=0.0003) after surgery and correction was maintained to 27.5+/-9.1degrees (p=0.0988) at the last follow up. Lordosis at fused segments were improved in both groups (p=0.001, 0.0001) but lordosis at unfused segments worsend in group A (p=0.0001). The factor associated with postoperative mal-alignment was symtoms of myelopathy (p=0.0436). Age, sex, fusion level, size of cage, and duration of symptoms were not significantly associated with postoperative changes in alignment. One nonunion occurred only in group A. Six cases of cage subsidences were found in group A, 3 cases in group B (p=0.4506). Adjacent segment degeneration was found in 8 segments in group A, 1 segment in group B (p=0.0048). The differences in clinical improvement evaluated by VAS, NDI between groups were not significant (p=0.88, p=0.91). CONCLUSION: Postoperative sagittal malalignment was a temporary and reversible change, and was not related to clinical results. However, it might be a factor in the increased incidence of adjacent segment degeneration.

Enfermedades prion / Prion diseases

Las enfermedades prion son un grupo se desordenes degenerativos del sistema nervioso central que comparten características patológicas crónicas y progresivas. Los agentes causales son un grupo de proteínas infectantes sin presencia de ácidos nucleicos. El objetivo de realizar esta revisión es dar a conocer: qué son las enfermedades priónicas, además de aportar datos sobre su fisiopatología, clasificación, modos de transmisión a si como cuadro clínico, diagnóstico y posible tratamiento para lograr una mayor comprensión de estas patologías. Normalmente en nuestro organismo existen proteínas llamadas proteínas priónicas (PrP) las mismas que poseen un nivel de estructuración de tipo hélice alfa que es susceptible a la lisis por proteasas; la patogénesis de estas proteínas se producen cuando aparece una mutación o un cambio conformacional inducido por PrP patógena de otro individuo lo cual altera su estructura tridimensional haciendo imposible su lisis enzimática y su consecuente acumulación en los tejidos afectados, originando así las enfermedades priónicas.

The prion diseases are a group of degenerative disorders of the central nervous system that have chronic and progressive pathological characteristics in common. These diseases are caused by infectious agents called prion. A prion is a small proteinaceous infectious particle which resists inactivation by procedures that modify nucleic acids. The objective of this article is to understand the different aspects of these diseases and to contribute data about its physiopathology, classification, clinical signs and symptoms, diagnosis and treatment to. There exists a cellular protein known as cellular prion protein PrP that have alpha helix structure susceptible to lysis by protease. The pathogenesis of these proteins are produced when the mutation causes a change in the folding pattern of these protein which makes it resistant to the action of proteases and causes it to precipitate as insoluble amyloid. It accumulates in the affected tissue and causes the disease.

Randomized controlled trial of sodium hyaluronate for degenerative disorders of the knee joint / 西安交通大学学报(医学版)

Objective To assess the effect of sodium hyaluromate (HA) on degenerative disorders of the knee joint (KJ). Methods A prospective randomized controlled clinical trial was conducted. The experimental group received injections in the compartments of the involved KJ with 1% HA 20mg, whereas the control group received prednisolone (PS) of 75mg once a week with five injections as one course. One week before and after the treatment , clinical symptoms, amount of interleukin-6 (IL-6) and total protein of synovial fluid were measured and compared. Results Both drugs could relieve the clinical symptoms of KJ degenerative disorders. In HA group, marked improvement rate was 52.78% and failure rate was 2.86%, whereas marked improvement rate was 39.29% and failure rate 17.86% in PS group. The declined levels of IL-6 in synovial fluid were notably greater in HA group than those in PS group. Conclusion Intra-articular injection of HA is effective and safe in treating KJ dgenerative disorders with mild adverse reactions.