Purkinje cell hamartoma (Histiocytoid
cardiomyopathy). Study of a case in an 18 months infant.
Marcial Garcia-Rojo(1),
Carlos Gamallo(2), Felipe
Moreno(3)
(1) Pathology Department. Complejo Hospitalario de Ciudad Real.
Spain.
(2) Pathology Department. Hospital La Paz. Madrid. Spain.
(3) Pediatric Cardiology Department. Hospital La Paz. Madrid.
Spain
[Introduction] [Materials and Methods] [Results] [Pictures]
[Discussion] [Bibliography]
Summary
- Purkinje cell hamartoma of the heart is a rare
clinicopathological entity, that usually appears in
female infants before the second year of live, presenting
with arrhythmias and sudden death. Its histogenesis
remains unknown.
-
- He have studied a 18 months old female infant that
presented in 1987 with a clinical picture of shock and
tachycardia of 320 beats per minute, resistant to medical
treatment. She was then treated surgically, with a
resection of a whitish area in the left interventricular
septum. This area extended from the apex of the left
ventricle until the outflow tract.
-
- The histological examination of the lesion showed large
polygonal cells, that were mainly located in the
subendocardium. These cells had large amount of
cytoplasm, that was clear and with PAS positive
inclusions, and with irregular nuclei. Ultrastructurally
the lesion showed numerous mitochondria.
-
- The immunochemical study was performed with vimentin,
desmin, actin, myosin, alpha-actinin, tropomyosin,
calmodulin, factor VIII, colagen IV, laminin, and S-100
antisera. With these markers, it was characteristic the
granular and/or diffuse positivity of the PAS positive
inclusions with actin, myosin, alpha-actinin,
tropomyosin, and desmin. With this last antibody we could
observe subsarcolemmal deposits. The positivity with
calmodulin was homogeneous in the remainder of the
cytoplasm and was absent in the inclusions. The basal
membrane was strongly positive for collagen IV and
laminin, making noticeable the existence of cytoplasmic
foldings, with images of membrane pseudoinclusions in the
cytoplasm.
-
- These results suggest that this entity corresponds with
an abnormality in the cytoskeleton proteins.
Dr. Marcial Garcia-Rojo M.D. Ph.D. (picture) is a
staff pathologist at the Department of Pathology of Complejo
Hospitalario de Ciudad Real. Dr. Gamallo M.D. Ph.D. is the Head
of the Immunochemistry Section in the Pathology Department at
Hospital La Paz. Dr. Felipe Moreno M.D. Ph.D. is Head of Section
the Cardiology Department at Hospital La Paz.
Ciudad Real is the Capital of a Region known as "La
Mancha", were all the story of the well known novel
"Don Quijote de la Mancha" develops.
- Key Words: Infant, Pediatrics, Heart,
Purkinje cell hamartoma, Cardiomyopathy, Arrhythmia
