La Revue de médecine interne
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Cerebral small vessel diseases are frequent and can be seen through all ages. Although the most frequent forms related to age and hypertension or to cerebral amyloid angiopathy are mainly observed in subjects over 50 years of age, rarer forms may affect young people, sometimes even children. ⋯ Cerebral small vessel diseases thus raise both daily therapeutic issues and much rarer diagnostic questions, sometimes extremely complex. Our aim was to review the main clinical initial presentations and the clinico-radiological spectrum of associated underlying conditions.
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Botulism is a rare syndrome resulting from the action of a neurotoxin produced by Clostridium botulinum, that it is potentially life threatening if diagnosis is delayed. ⋯ Although botulism is uncommon, better awareness of its manifestations and high clinical suspicion should shorten diagnostic delay that makes the use of specific antitoxin ineffective. An acute onset of a bilateral oculomotor palsy, a fixed pupillary dilation and descending weakness in the absence of fever is typical of botulism. Outcome is usually favorable with a slow but full neurological recovery.
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Carpal tunnel syndrome (CTS) is too common a condition not to daily interact with the practitioner, if only because of its entanglement to other pathologies, causal or chance association. The typical symptomatology, with hand paresthesia and morning pain upon waking, is related to a median nerve injury in the confined space of the carpal tunnel, more often by local inflammation and tenosynovitis of the finger flexors (repetitive activity of the hands). SCC may be secondary to situations (pregnancy) or conditions (edema, hypothyroidism…), which exaggerate the ordinary pathophysiology or cause deposits in the channel (amyloidosis, mucopolysaccharidoses, etc.). ⋯ In SCC forms with only slowed conduction without sign of seriousness, a splint or infiltration treatment may be attempted. If this medical treatment does not bring healing, or if there are signs of seriousness or unbearable pains, a decompression surgery is indicated. Whether it is performed traditionally or endoscopically, it provides fast relief, even immediate.
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Adrenal hemorrhage is a classical but rare complication of antiphospholipid syndrome, revealing diagnosis in one third of the cases. Anti-vitamin K therapy is the standard treatment but direct oral anticoagulants are discussed as an alternative. In the latest recommendations, it is advised not to use direct oral anticoagulants in the setting of antiphospholipid syndrome. ⋯ To our knowledge, it is the first case of adrenal hemorrhage occurring during apixaban treatment in a patient with antiphospholipid syndrome. This case illustrates the inefficacy of direct oral anticoagulants to prevent thrombotic events in antiphospholipid syndrome, in accordance with the latest recommendations.
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Review Case Reports
Characteristics of Systemic Sclerosis patients with positive anti-Th/To antibodies: About 6 patients and literature review.
Among the antibodies described in Systemic Sclerosis (SSc), anti-Th/To antibodies (anti-Th/To) are rare and have been poorly studied. Thus, little is known about the profile of anti-Th/To positive patients. From our local Biobank (Marseille, France), we retrospectively selected data for 6 patients positive for anti-Th/To with an Immunodot assay. ⋯ In order to further characterize patients positive for anti-Th/To, we performed a thorough literature review. From 402 studied patients positive for anti-Th/To, we confirmed that these antibodies are associated with the limited cutaneous form of the disease (88% of the patients), and with an SSc related-pulmonary involvement (50%). The review analysis pointed out the rarity of the anti-Th/To with an estimated mean frequency of 3.4% of all SSc patients worldwide, their usual exclusivity with respect to the specific antibodies of scleroderma, and their high specificity (around 98%) for the diagnosis of SSc.