ABSTRACT
OBJECTIVES: X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco. RESULTS: We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol. Over a period of 5 years, we recruited eight families with 16 patients. Clinically, the presentation is primary adrenal insufficiency and behavioral changes. All patients had elevated levels of very long fatty acids. This is the first study of X-linked adrenoleukodystrophy in Morocco. It shows the importance of this metabolic disease and broadens perspectives in terms of its diagnosis and its treatment.
Subject(s)
Adrenoleukodystrophy/diagnosis , Adrenoleukodystrophy/therapy , Adrenoleukodystrophy/epidemiology , Adult , Child , Child, Preschool , Clinical Protocols , Female , Humans , Male , Morocco/epidemiology , Program Development , Rare DiseasesABSTRACT
INTRODUCTION: Severe pulmonary tuberculosis may be complicated by deep vein thrombosis due to a state of hypercoagulability. OBSERVATION: We report a case of pulmonary miliary tuberculosis associated with cerebral venous thrombosis and multiple intracranial tuberculomas. A 65-year-old woman developed a confusional syndrome one week after starting treatment for pulmonary military tuberculosis. Neuroimaging reveals a thrombus in the right lateral sinus and multiple silent intracranial tuberculoma. CONCLUSION: The patient was given anticoagulants and fully recovered.
Subject(s)
Lateral Sinus Thrombosis/etiology , Tuberculoma, Intracranial/etiology , Tuberculosis, Miliary/complications , Tuberculosis, Pulmonary/complications , Acenocoumarol/therapeutic use , Aged , Anticoagulants/therapeutic use , Antitubercular Agents/therapeutic use , Confusion/etiology , Drug Therapy, Combination , Female , Heparin/therapeutic use , Humans , Immunocompromised Host , Isoniazid/therapeutic use , Lateral Sinus Thrombosis/diagnostic imaging , Lateral Sinus Thrombosis/drug therapy , Pyrazinamide/therapeutic use , Radiography , Rifampin/therapeutic use , Streptomycin/therapeutic use , Thrombophilia/drug therapy , Thrombophilia/etiology , Tuberculoma, Intracranial/drug therapy , Tuberculosis, Miliary/blood , Tuberculosis, Miliary/drug therapy , Tuberculosis, Pulmonary/blood , Tuberculosis, Pulmonary/drug therapyABSTRACT
We report an exceptional case of hemoptysis observed in a 38-year-old woman with an uneventful past history. Bronchial fibroscopy demonstrated the presence of a leech attached to the laryngeal orifice. This condition is common in endemic areas but is underdiagnosed. The association of hemoptysis, voice alterations, and difficult respiration are suggestive signs. Extraction should be achieved rapidly to avoid death due to acute respiratory failure.
