Apoptosis ; Cell Nucleus ; metabolism ; Clinical Trials as Topic ; Cytoplasm ; metabolism ; DNA, Mitochondrial ; metabolism ; Glucocorticoids ; therapeutic use ; Humans ; MELAS Syndrome ; drug therapy ; Mitochondria ; metabolism ; Mitochondrial Diseases ; drug therapy ; Muscular Diseases ; drug therapy

INTRODUCTIONThis study aimed to assess the kind of haematological abnormalities that are present in patients with mitochondrial disorders (MIDs) and the frequency of their occurrence.

METHODSThe blood cell counts of a cohort of patients with syndromic and non-syndromic MIDs were retrospectively reviewed. MIDs were classified as 'definite', 'probable' or 'possible' according to clinical presentation, instrumental findings, immunohistological findings on muscle biopsy, biochemical abnormalities of the respiratory chain and/or the results of genetic studies. Patients who had medical conditions other than MID that account for the haematological abnormalities were excluded.

RESULTSA total of 46 patients ('definite' = 5; 'probable' = 9; 'possible' = 32) had haematological abnormalities attributable to MIDs. The most frequent haematological abnormality in patients with MIDs was anaemia. 27 patients had anaemia as their sole haematological problem. Anaemia was associated with thrombopenia (n = 4), thrombocytosis (n = 2), leucopenia (n = 2), and eosinophilia (n = 1). Anaemia was hypochromic and normocytic in 27 patients, hypochromic and microcytic in six patients, hyperchromic and macrocytic in two patients, and normochromic and microcytic in one patient. Among the 46 patients with a mitochondrial haematological abnormality, 78.3% had anaemia, 13.0% had thrombopenia, 8.7% had leucopenia and 8.7% had eosinophilia, alone or in combination with other haematological abnormalities.

CONCLUSIONMID should be considered if a patient's abnormal blood cell counts (particularly those associated with anaemia, thrombopenia, leucopenia or eosinophilia) cannot be explained by established causes. Abnormal blood cell counts may be the sole manifestation of MID or a collateral feature of a multisystem problem.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Anemia ; pathology ; Biopsy ; Blood Cell Count ; Electron Transport ; Eosinophilia ; blood ; Female ; Hematologic Diseases ; blood ; complications ; Humans ; Leukopenia ; blood ; Male ; Middle Aged ; Mitochondrial Diseases ; blood ; complications ; Muscles ; pathology ; Retrospective Studies ; Thrombocytopenia ; blood ; Thrombocytosis ; blood ; Young Adult

Infection of the central nervous system with Nocardia sp. usually manifests as supratentorial abscesses. Supratentorial and cerebellar abscesses from infection with Nocardia sp. following immunosuppression with long-term corticosteroids for idiopathic thrombocytopenia (ITP) have not been reported. An 83 years-old, human immunodeficiency virus (HIV)-negative, polymorbid male with ITP for which he required corticosteroids since age 53 years developed tiredness, dyspnoea, hemoptysis, abdominal pain, and progressive gait disturbance. Imaging studies of the lung revealed an enhancing tumour in the right upper lobe with central and peripheral necrosis, multiple irregularly contoured hyperdensities over both lungs, and right-sided pleural effusions. Sputum culture grew Nocardia sp. Neurological diagnostic work-up revealed dysarthria, dysphagia, ptosis, hypoacusis, tremor, dysdiadochokinesia, proximal weakness of the lower limbs, diffuse wasting, and stocking-type sensory disturbances. The neurological deficits were attributed to an abscess in the upper cerebellar vermis, myopathy from corticosteroids, and polyneuropathy. Meropenem for 37 days and trimethoprime-sulfamethoxazole for 3 months resulted in a reduction of the pulmonary, but not the cerebral lesions. Therefore, sultamicillin was begun, but without success. Long-term therapy with corticosteroids for ITP may induce not only steroid myopathy but also immune-incompetence with the development of pulmonary and cerebral nocardiosis. Cerebral nocardiosis may not sufficiently respond to long-term antibiotic therapy why switching to alternative antibiotics or surgery may be necessary.
Adrenal Cortex Hormones/*adverse effects/*therapeutic use ; Aged, 80 and over ; Cerebellar Diseases/*chemically induced/*diagnosis/pathology ; Humans ; Immunosuppression ; Male ; Muscular Diseases/*chemically induced/pathology ; Nocardia Infections/*diagnosis ; Purpura, Thrombocytopenic, Idiopathic/*drug therapy

Biopsy ; methods ; Electromyography ; Humans ; Muscles ; pathology ; Polyneuropathies ; diagnosis