Hypercoagulability in hereditary hemorrhagic telangiectasia with epilepsy.

Recent data indicate that in patients with hereditary hemorrhagic teleangiectasia (HHT), low iron levels due to inadequate replacement after hemorrhagic iron losses are associated with elevated factor-VIII plasma levels and consecutively increased risk of venous thrombo-embolism. Here, we report a patient with HHT, low iron levels, elevated factor-VIII, and recurrent venous thrombo-embolism. A 64-year-old multimorbid Serbian gipsy was diagnosed with HHT at age 62 years.

Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.

Objective: Cardiac involvement in X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) usually includes arrhythmias but not dilative cardiomyopathy (dCMP). Here, we report an X-EDMD patient with severe dCMP and life-threatening ventricular arrhythmias associated with other phenotypic features unusual for X-EDMD.

Case Report: A 46-year-old patient with X-EDMD due to the known splice-site mutation c.

Familal left ventricular hypertrabeculation (noncompaction) is myopathic.

Background: Left-ventricular hypertrabeculation/noncompaction(LVHT) is a cardiac abnormality of unknown aetiology, frequently associated with arrhythmias, heart failure, and embolism. In most cases LVHT is associated with neuromuscular disorders (NMDs) or other rare non-neuromuscular genetic syndromes. Occasionally, LVHT occurs familiarly.

Priapism as a manifestation of tetania.

In a 40-year old male admitted because of anginal chest pain, priapism developed after coronary angiography. Chest pain and priapism most probably were due to severe hypocalcaemia 6 weeks after thyroidectomy. Both chest pain and priapism disappeared after substitution of calcium.

Apical ballooning (Takotsubo syndrome) in mitochondrial disorder during mechanical ventilation.

Takotsubo syndrome may be associated with neuromuscular disorders, but has never been described in a patient with mitochondrial disorder. A 75-year-old woman developed muscle cramps, ptosis, fasciculations and slowly progressive weakness and wasting of all four limbs, starting 2.5 years earlier.

Mild leptospirosis with three-year persistence of IgG- and IgM-antibodies, initially manifesting as carpal tunnel syndrome.

Long-term persistence of IgG- and IgM-antibodies against leptospira after mild leptospirosis has not been reported. In a 45-year-old female pet-shop worker with carpal tunnel syndrome, accompanied by arthralgias, coughing, repeatedly elevated temperature, followed by easy fatigability, personality change, memory and speech disturbance, blurred vision, myalgia and swollen lymph nodes, leptospirosis was diagnosed, based upon history, clinical findings, and serological investigations. After the described symptoms had disappeared following doxycyclin for 2 weeks, IgG- and IgM-antibodies against leptospira remained positive during the next three years.