Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis.

We report the diagnosis of hereditary amyloidosis that affected a Belgian family that was initially diagnosed in a 73 year old woman. This patient was admitted with complaints of congestive heart failure. Cardiac work-up showed myocardial hypertrophy with zones of hyperintensity, suggestive for amyloidosis that was confirmed on a rectal biopsy. A hereditary form of amyloidosis was found by showing the Val30Met mutation within the transthyretin gene, that was also found in her asymptomatic son. This case shows that genetic testing is crucial in cases of unexplained amyloidosis and can help in the diagnosis and follow-up of patients and family members.

[Invasive pulmonary mucormycosis with invasion of the thoracic spine in a patient with myelodysplastic syndrome]. / Mucormycose invasive du poumon et du rachis dorsal.

We report the case of a 67-year-old patient who presented with a myelodysplastic syndrome and who developed a pulmonary mucormycosis with a rare extension to the dorsal spine. A decompressive laminectomy was attempted after failure of broad-spectrum antifungal treatment (Cancidas, V-Fend). The diagnosis was obtained after surgical biopsy. The scheduled lobectomy could not be performed because of altered clinical condition. The patient eventually died despite adapted antifungal treatment (Abelcet, Posaconazole). Pulmonary mucormycosis is a rare cause of mycotic infection that reaches most of the time immunocompromised patients. The pathogenic agent is part of zygomyces that have angio-invasive ability. Perineural propagation was recently described. Immunodepression, late diagnosis and lack of response to new generation antifungal drugs (V-Fend, Cancidas) are responsible for therapeutic failure in this disease. This case emphasizes the risk inherent to empirical antifungal treatment and the need of early biopsy in cases that do not respond to treatment.