Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy / Hemocromatosis juvenil con compromiso multiorgánico, un caso de autopsia

Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other conditions. Juvenile hemochromatosis (JH) is related to hemojuvelin mutation, which is a regulatory peptide of the hepcidin protein, which regulates iron absorption. We report a case of JH and offer a concise review of the literature. A 14-year-old girl, with no secondary sexual characteristics, presented with abdominal pain, cough and dyspnoea. Clinical examination revealed right lower lobe consolidation, pleural effusion, cardiomegaly and an ejection fraction of 20%, with no response to treatment. On autopsy she was seen to have pleural and pericardial effusion, dilated cardiomyopathy, liver cirrhosis and pancreatic fibrosis. Prussian blue stain showed iron overload in these organs. JH with hypogonadism, cardiomyopathy and cirrhosis was diagnosed

La hemocromatosis hereditaria (HH) agrupa trastornos del metabolismo del hierro con depósito de este en diversos órganos. Se clasifica según su asociación con mutaciones del gen HFE. La HH tipo I aparece por mutación del gen HFE, mientras que las tipo II, III y IV, obedecen a otras alteraciones. La hemocromatosis juvenil (HJ) se presenta por mutaciones en la hemojuvelina, proteína reguladora de la hepcidina que limita la absorción de hierro. El objetivo de este artículo es presentar un caso de HJ y hacer una breve revisión de la literatura. Una adolescente sin desarrollo de caracteres sexuales secundarios consultó por dolor abdominal, tos y disnea, y a la valoración clínica se observó consolidación basal derecha, derrame pleural, cardiomegalia y fracción de eyección del 20%, sin respuesta al tratamiento. En la autopsia se encontró derrame pleural y pericárdico, cardiomiopatía dilatada, cirrosis hepática y fibrosis pancreática. La tinción de azul de Prusia mostró depósito de hierro en estos órganos. Los hallazgos descritos permitieron diagnosticar HJ, enfermedad que se expresó por hipogonadismo, cardiomiopatía y cirrosis

An unusual tumour: Hamartoma of mature cardiac myocytes / Hamartoma de miocitos cardiacos maduros: un tumor inusual

Heart neoplasms are uncommon and usually benign. Hamartoma of mature cardiac myocytes is an unusual lesion with only a few reported cases. It is a heterogeneous mixture of well-differentiated myocytes, fibroblasts, adipocytes and blood vessels. We present a case of hamartoma of mature cardiac myocytes and a concise review of the pertinent literature. A multi-lobulated polypoid tumour attached to the wall of the right atrium was found during an autopsy of a young woman. Microscopy revealed cardiomyocytes, fibrous connective tissue and well-differentiated adipocytes. The immunohistochemical study had a positive immunoreactivity for desmin, muscle-specific actin (HHF-35) and CD34 markers, showing the different types of mesenchymal cells involved. This combination of markers has not been previously used. Other tumours, such as cardiac rhabdomyoma and cardiac myxoma were ruled out due to the differences in histological characteristics and clinical presentation

Las neoplasias cardiacas son inusuales, y la mayoría benignas. El hamartoma de miocitos cardiacos maduros es una lesión inusual con pocos casos reportados en la literatura; está conformado por una mezcla heterogénea de miocitos, fibroblastos, adipocitos y vasos sanguíneos bien diferenciados. El objetivo de este artículo es describir un caso de hamartoma de miocitos cardiacos maduros y hacer una breve revisión de la literatura. Se trata de una mujer de 23 años en cuya autopsia se encontró una lesión tumoral polipoide multilobulada fija a la pared del atrio derecho. Microscópicamente se observaron miocitos cardiacos, tejido fibroconectivo y adipocitos bien diferenciados. El estudio de inmunohistoquímica confirmó la histogénesis de la lesión, ya que hubo inmunoreactividad positiva para los marcadores desmina, actina músculo específica/HHF-35 y CD34, marcadores que no habían sido usados en conjunto en la misma muestra en publicaciones previas. Se descartaron otros tumores como el rabdomioma cardiaco y el mixoma cardiaco por las características histológicas y la presentación clínica de estos que difieren con nuestro caso

Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy.

Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other conditions. Juvenile hemochromatosis (JH) is related to hemojuvelin mutation, which is a regulatory peptide of the hepcidin protein, which regulates iron absorption. We report a case of JH and offer a concise review of the literature. A 14-year-old girl, with no secondary sexual characteristics, presented with abdominal pain, cough and dyspnoea. Clinical examination revealed right lower lobe consolidation, pleural effusion, cardiomegaly and an ejection fraction of 20%, with no response to treatment. On autopsy she was seen to have pleural and pericardial effusion, dilated cardiomyopathy, liver cirrhosis and pancreatic fibrosis. Prussian blue stain showed iron overload in these organs. JH with hypogonadism, cardiomyopathy and cirrhosis was diagnosed.

An unusual tumour: Hamartoma of mature cardiac myocytes.

Heart neoplasms are uncommon and usually benign. Hamartoma of mature cardiac myocytes is an unusual lesion with only a few reported cases. It is a heterogeneous mixture of well-differentiated myocytes, fibroblasts, adipocytes and blood vessels. We present a case of hamartoma of mature cardiac myocytes and a concise review of the pertinent literature. A multi-lobulated polypoid tumour attached to the wall of the right atrium was found during an autopsy of a young woman. Microscopy revealed cardiomyocytes, fibrous connective tissue and well-differentiated adipocytes. The immunohistochemical study had a positive immunoreactivity for desmin, muscle-specific actin (HHF-35) and CD34 markers, showing the different types of mesenchymal cells involved. This combination of markers has not been previously used. Other tumours, such as cardiac rhabdomyoma and cardiac myxoma were ruled out due to the differences in histological characteristics and clinical presentation.