Gennaio 2005 - Volume XXIV - numero 1

Medico e Bambino


Pagine elettroniche

Manifestazioni ematologiche nelle malattie mitocondriali con mutazione dell’mt-DNA

R. Cerchio, F. Timeus, P. Saracco, L. Garbarini, P. Quarello, M. Forni1, L. Cordero di Montezemolo, U. Ramenghi, M. Zeviani2

Divisione di Ematologia pediatrica, Dipartimento di Scienze Pediatriche Università di Torino
1Anatomia Patologica,Ospedale Infantile Regina Margherita, Torino
2Divisione di Genetica molecolare, Istituto Nazionale “C. Besta”, Milano

HAEMATOLOGICAL MANIFESTATIONS IN MITOCHONDRIAL DISEASES WITH mt-DNA MUTATION

Key words: Haematological manifestations, Mitochondrial disease, Pearson syndrome

We report a 10-month-old girl who, at the age of 4 months, was admitted for increasing pallor. Severe normocytic anaemia, neutropenia and thrombocytopenia and typical diffuse vacuolization of marrow haemopoietic precursors were present. She also presented with mild lactic acidosis. Molecular analysis of mt-DNA revealed an 8.000 bp single macrodeletion. Unexpectedly, anaemia was not sideroblastic and there was no exocrine pancreatic dysfunction. Pearson marrow/pancreas syndrome is a usually fatal mitochondrial disease that involves the haematopoietic system, and usually also exocrine pancreas, liver and kidneys. Other mitochondrial cytopathies with mt-DNA mutation can have haematological manifestations, most of all sideroblastic anaemia. Mitochondrial diseases should be considered in the differential diagnosis of anaemia/pancytopenia in infancy.

Vuoi citare questo contributo?

R. Cerchio, F. Timeus, P. Saracco, et al. Manifestazioni ematologiche nelle malattie mitocondriali con mutazione dell’mt-DNA. Medico e Bambino 2005;24(1):57-58 https://www.medicoebambino.com/?id=0501_57.pdf

Pagine elettroniche

Quando una sepsi neonatale nasconde una malattia metabolica

C. Forino, C. Rodriguez-Perez

Clinica Pediatrica, Spedali Civili, Università di Brescia

WHEN NEONATAL SEPSIS HIDES A METABOLIC DISEASE

Key words: Hemolytic-uremic-syndrome (HUS), Cobalamin C disease

A 50-day-old boy presented with failure to thrive, hypotonia, pustular lesions and facial erythema, neutropenia and multiple positive cultures to Staphylococcus aureus. He was treated with intravenous antibiotics without clinical benefit. He developed hepatosplenomegaly, gastritis, two episodes of hemolytic anemia and eventually HUS with renal failure and metabolic acidosis which led to death. Aminoacid analysis showed elevated plasma homocysteine levels and high levels of both homocysteine and methyl-malonic acid in the urine, compatible with the diagnosis of cobalamin C disease. Cobalamin C disease should be considered in the diagnosis of patients with HUS and pancytopenia.

Vuoi citare questo contributo?

C. Forino, C. Rodriguez-Perez Quando una sepsi neonatale nasconde una malattia metabolica. Medico e Bambino 2005;24(1):58 https://www.medicoebambino.com/?id=0501_57.pdf


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