Splenic involvement in tuberous sclerosis

Abstract

Three cases of tuberous sclerosis in neonates were found to have focal, frequently perivascular, collections of large cells with abundant eosinophilic cytoplasm. These cells resembled those found in brain lesions of tuberous sclerosis but did not stain for acidic protein. Ultrastructurally, they were characterized by many membrane bound cytoplasmic bodies, 90 to 270 nm in diameter, with amorphous contents. Filaments were not demonstrated. Their appearance is considered most consistent with histiocytic origin. Large cells with a histiocytic appearance and a superficial resemblance to those seen in the brain in tuberous sclerosis, but a different ultrastructure and reaction to GFAP staining, may be found in the spleen of neonates with this disease.

Splenic tumors in an adult with tuberous sclerosis: the giant “histiocytoid” cells are dysplastic histiocytes

“…The features of the large cells in our case are comparable to the histiocytoid cells reported by Bender and Yunis [1]. Inferring from the apparent lack of analogous lesions in adults, these authors supposed that the presence of histiocytoid cells could have been a transient phenomenon limited to the neonatal period.…”

“…Splenic lesions are rare in TS and, by these criteria, are not considered diagnostic. A few reports summarized by Bender and Yunis [1] described three cases of large-cell nodular lesions in neonates. These authors added five additional neonate autopsy cases of diffuse splenic lesions composed of very large cells with eosinophilic cytoplasm.…”

Perinatal (Fetal and Neonatal) Tuberous Sclerosis: A Review

“…Splenic involvement occurs in perinatal TSC. 16,44,65,71 The liver is rarely affected. 30 The lesion in the spleen and liver is characterized by collections of large pink cells with a similar appearance as those noted in the central nervous system.…”

Prenatal diagnosis of cerebral lesions and multiple intracardiac rhabdomyomas in a fetus with tuberous sclerosis.

“…We found reports of 4 other cases of splenic histiocytosis in tuberous sclerosis in neonates, and to the best of our knowledge, this is the second case describing prenatal ultrasonographic detection of tuberous lesions in the central nervous system. [23][24][25] We share the opinion of others 15,20 that in cases of intracardiac rhabdomyoma, close surveillance, including serial fetal echocardiography and Doppler ultrasonographic examination to assess tumor growth and cardiac function, is advisable. In cases of suspected tuberous sclerosis, fetal karyotyping should be offered to improve prenatal counseling of parents.…”