A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.

RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, which is inherited as an X-linked recessive trait. ATP binding cassette subfamily D member 1 (ABCD1) localized to Xq28 is the only gene associated with ALD. PATIENT CONCERNS: We report a case of Chinese boy with childhood cerebral ALD, who began experiencing symptoms at the age of 5 years and 2 months. Very long chain fatty acids analysis revealed high levels of C24/C22 ratio and C26/C22 ratio in the plasma. Magnetic resonance imaging (MRI) showed abnormal bilateral white matter lesions in brainstem, temporal, occipital, and parietal lobes. DIAGNOSES: Direct sequencing of the ABCD1 gene identified a novel c.1502del mutation on exon 6, which causes a substitution of the 501st amino acid from methionine to serine and finally the 557th codon is changed to stop codon. INTERVENTIONS: Special education and rehabilitation therapy. OUTCOMES: The disease progressed rapidly and resulted in death at the age of 8 years. LESSONS: Early detection of mutations in the ABCD1 gene may facilitate diagnosis, genetic counseling and potentially aid prenatal diagnosis of the disease.

Spastic paraparesis and sensorineural hearing loss in a patient with neurobrucellosis.

OBJECTIVE: Brucellosis is a zoonotic disease and still a major public health problem in many geographic areas including Mediterranean basin and Middle East. Brucellosis causes multisystemic involvement and although rare central nervous system involvement causes serious manifestations. Neurobrucellosis occurs less than 5% of patients and presents with meningitis,encephalitis, myelitis, myelopathy, stroke, paraplegia, radiculoneuritis, intracerebral abscess, epidural abscess, demyelination and cranial nerve involvement or any combination of these manifestations. Spastic paraparesis and the sensorineural involvement are rarely reported in the literature. METHODS: Herein we present a 28 years-old man with spastic paraparesis and sensorineural hearing loss due to neurobrucellosis. RESULTS: The patient was treated with antibiotics combination for 6 months and underwent rehabilitation program. CONCLUSIONS: Neurobrucellosis should be ruled out in patients with unexplained neurological symptoms and/or sensorineuralhearing loss particularly in those living in endemic areas.

Strength: a relevant link to functional performance in the neurodegenerative disease of adrenomyeloneuropathy.

BACKGROUND: With progressive abnormalities in leg strength, tone, and sensation, adrenomyeloneuropathy (AMN) is a differential diagnosis for multiple sclerosis and hereditary spastic paraparesis. AMN pathology has been linked to weakness, making it a relevant model to evaluate the relationship between neurodegeneration and disability. Quantifying symptom severity in AMN is essential for treatment development in rehabilitative management. OBJECTIVE: To identify deficits in body functions, activity, and participation of people with AMN and provide a practical framework for evaluating the severity of disability. METHODS: Cohort analysis of 142 participants with AMN. MEASURES: of body functions (leg strength, vibration sensation, range of motion, and spasticity), activity (walk velocity, standing balance, Timed Up and Go, and Sit-to-Stand Time), and participation (6-Minute Walk) are evaluated. Regression analyses identify relationships between the measures. A staging framework (mild, moderate, and severe) reflects the continuum of disability. Finally, an analysis of variance/Kruskal-Wallis was used for between-stage and sex differences among the variables. RESULTS: Strength is the strongest correlate for the 5 measures of activity and participation. Staging based on weakness distinguishes 3 levels of severity along a continuum of disability. Differences between the sexes are more prevalent earlier in the continuum but show equally severe deficits in the last stage. CONCLUSIONS: In AMN, staging based on degrees of weakness provides a practical means to characterize the severity of common deficits in body functions as well as activity and participation at each stage, to direct the evaluation. Such information could help clinicians develop more effective rehabilitative techniques.