Paper # 008 Versión en Español Versión en Español

Purkinje cell hamartoma (Histiocytoid cardiomyopathy). Study of a case in an 18 months infant.

Marcial Garcia-Rojo, Carlos Gamallo, Felipe Moreno

[Title] [Introduction] [Materials & Methods] [Results] [Pictures] [Discussion] [Bibliography]



[Definition] [Clinical] [Gross] [Microscopy] [Techniques] [Interpretation]

LITERATURE REVIEW. Anatomic Pathology


Heart. Other findings:

None of the patients had abnormalities involving the coronary arteries, or any congenital malformations of the heart or great vessels(3,4,22,25,24), except one case with a small ventricular septal defect(23) and two cases with patent foramen ovale(8) and one atrial septal defect(8). Some years later, Franciosi and Singh(1988) described what they called "the first" report on oncocytic cardiomyopathy associated with congenital heart disease. There was a hypoplastic left ventricle, marked dilatation of right atrium and right ventricle, marked stenosis of the mitral and aortic valves; and the oncocytic cardiomyopathy was an unexpected finding at autopsy(30).


Pericardium: Slightly milky epicardium with a few petechiae (11).

Fibrinous pericarditis(left ventricular epicardial electrode, right atriotomy and ventriculotomy)(23).


Endocardium: Endocardial thickening(fibrosis)(20,26,3,4,21,8[11 cases],25,30) and opacity in left ventricle(2,20,3,4,5), right ventricle(4) left atrium(3,4), in the neighbourhood of the foramen ovale(11), right atrium(4), left side of the ventricular septum(21), and exact site not specified(26). In one case with the "classical" (in terms of distribution and severity) changes of endocardial fibroelastosis(4)

No endocardial fibroelastosis(12).

Mural trombi in left atrium(infected) and left ventricle(26, and right ventricle(3).


Miocardium: The intervening tissue being somewhat fibrous(11,12,8). No interstitial fibrosis or fatty infiltration(22).

Myocardial necroses(2,20,14,3,13), in the form of coagulation necroses(microinfarcts)(14,3), myocytolysis(3,13).

The necrotic areas were sharply demarcated and scattered throughout the inner(14,3) and middle(14) third of the left ventricular free wall(2,20,14,3), the interventricular septum(14), right ventricle(2) and both atria(2,14). The microinfarcts were located in areas of previously unaltered myocardium(14,3), but also involved islands of myocardium featuring the peculiar form of lipid degeneration(20,14,3).

No evidence of cell necrosis was found(12).

Chronic inflammatory cells were found(2,20,26,14,3, 12,16,8[9 cases]), mainly lymphocytes(12,8) but including a few eosinophils(12), in association with the granular myocytes(12), sometimes localized to areas of cardiac necrosis(2,20,14); or a inflammatory response, mostly of lymphocytes, that were not associated with cardiac necrosis, both within and outside areas containing the large clear cells(3); or histiocytes and Anitschkow cells that were associated with the large, vacuolated cells(26).

Left ventricular myocardial hypertrophy in the fibers adjacent to the abnormal collections of cells (20,8).

Scattered zones of congestive mottling of the myocardium(14).


Other organs:

No relevant changes(11,2,20,16) or changes that were attributable to hypotension, hypoxia, and congestive cardiac failure(3,22,8).


Changes due to anoxia(11,27,3,22).
Focal micronodular calcification bilaterally in the periventricular white matter(27,12).
Dilatation of lateral ventricles(12).
Neurologic malformations(36,12).
Agenesis of the corpus callosum(36,12).
Polymicrogyria, deficient occipital cortex(36).
Absence on the left posterior communicating cerebral artery(30).



Corneal opacities(3,36,12,8).
Megalocornea, cataract, aphakia, sclerization of peripheral cornea, degeneration of outer layers of lens, chronic anterior uveitis(12).
Oblong pupils(8).


Other findings:

Each pleural cavity contained 50 ml of clear fluid(20).

One case also had widespread systemic emboli(26).


Pulmonary embolus(3).

Pneumonia(3,23), pneumonitis(26,15).

Pulmonary edema(20,7,3,5).

Lungs were atelectatic(15).

Laryngeal web(8).

Aspiration of gastric content(26).

Meckel's diverticulum(8).

Enlarged mesenteric lymph nodes(26,3,4,15).



Mild fatty degeneration of the liver(15).

Giant mitochondria in the liver(32).

Renal infarcts(7).

Adrenal cortical, intestinal(27) and renal tubular necrosis(27,15).

Renal tubular calcinosis(23).

Engorgement of spleen, liver and kidneys(5).

A small umbilical hernia(4).

Multiple follicular cysts of the ovaries(15).

Hypoplasia of the ovaries(30).

Oncocytes were found also in endocrine (anterior pituitary, thyroid)(12,30) and exocrine (submandibular, sublingual, minor salivary glands(affecting ducts and the serous acini))(12). The ultrastructure of this glands was very similar in that the transformed cells in all these tissues showed enlargement, variable vacuolization, and greatly increased numbers of mitochondria at the expense of the normal organelles(12).

Skeletal muscle tissue contained little glycogen and no increase of fat droplets(22). Focal granularity(22) of some muscle fibers was also seen(22). Ultrastructurally skeletal muscle tissue of all muscles contains subsarcolemmaly foci of aggregated rounded and enlarged mitochondria with a diameter up to 1,8 µm. Other muscle fibers are almost totally filled with mitochondria and contain no myofibrils. The subsarcolemmal aggregation of mitochondria sometimes consists of disk-like mitochondria which are stacked one on another. The mitochondria of the capillary endothelia in skeletal muscle show no abnormalities(22). Liver, kidneys and smooth muscle cells of the gastric wall were without abnormalities(22).