Child with intra cardiac masses and multiple seizure types. Rhabdomyoma, Tuberous sclerosis and possible Lennox-Gastaut syndrome - A rare case report

Abstract

Rhabdomyoma are the most common benign cardiac tumors. These are tumors with favorable prognosis because they frequently do not cause symptoms and they often regress in numbers and size. Due to frequent association with tuberous sclerosis complex and the resulting neurological impairment, the prognosis can be unfavorable. Here we report a case of a 7 months old boy who was diagnosed as cardiac rhabdomyoma during fetal life by fetal echocardiography and later went on to develop seizures as a part of tuberous sclerosis complex at 6 months of age. This report also highlights the difficulties in obtaining a diagnosis and practicing the latest evidence based treatment in low income underdeveloped country like nepal especially in patients belonging to the lower socioeconomic class due to financial shortages and lack of resources.

Keywords: Congenital heart disease; Epilepsy; Rhabdomyoma; Seizures; Tuberous sclerosis.

Fig. 1

Showing multiple bright echogenic masses on fetal echocardiography.

Fig. 2

Hypopigmented ash leaf macules seen at the groin.

Fig. 3

Skin pigmentation, indented and thickened skin noted at the nape of neck and back.

Fig. 4

Echocardiography showing multiple cardiac masses s/o rhabdomyomas.

Fig. 5

Parasternal long axis view showing rhabdomyoma near the insertion of papillary muscles.

Fig. 6

Apical four chamber view showing rhabdomyoma in LV cavity.

Fig. 7

Parasternal short axis view showing rhabdomyoma in the LV cavity. None of the masses are near the LV outflow tract and not causing any obstruction.