The importance of imaging in tuberous sclerosis complex (tsc) in children: Two cases

Abstract

Tuberous sclerosis complex (TSC) is an inherited, multisystemic, hamartomatous neurocutaneous disorder, with an autosomal dominant inheritance pattern. It affects multiple organs, however the most susceptible ones include the brain, skin, kidneys, lungs, the retina, and the heart. TSC is characterized by considerable clinical heterogeneity. The majority of patients present with a constellation of clinical signs and symptoms, most prominently central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations. Epilepsy affects 70% - 90% of patients, representing the primary neurological feature and 1 of the foremost clinical findings of the disorder. Cardiac rhabdomyomas are the most frequent cardiac manifestations, appearing as isolated or multiple lesions. Herein, we present 2 patients diagnosed with tuberous sclerosis. A 3-month-old male patient with cardiac rhabdomyomas and hypopigmented macules and a 19-month-old male patient with partial epilepsy and mild psychomotor retardation. As brain lesions represent some of the most prevalent clinical features and early onset seizures are associated with more severe cognitive, function delay, through this article we hope to emphasize the potential role MRI can play in the diagnostic workup of TSC, to ensure a more timely diagnosis, thus modifying the natural course of the disorder and its prognosis.

Keywords: Epilepsy; Magnetic Resonance Imaging; Pediatrics; Rhabdomyoma; Tuberous sclerosis.

Fig. 1

(A) 3-month-old boy with tuberous sclerosis. (A) Coronal T2-weighted images of the brain at multiple levels. There are dominant hyperintense T2 lesions in the left parietal cortex and subcortical region consistent with cortical tuber (green arrows).( B, C) Axial T1- weighted images of brain, cortical tubers are also seen in the left frontal lobe (green arrows). There is a prominent subependymal nodule at foramen Monro (green arrows). (D) Axial T1- weighted images of brain after contrast administration shown smaller subependymal nodules are identified along the walls of the lateral ventricle (green arrows) (Color version of figure is available online)

Fig. 2

(A) 3-month-old boy with tuberous sclerosis. Multiple bright hyperechoic pseudotumoral images with the myocardium, in the interventricular septum, the right atrium, and both ventricles (white arrows) (Color version of figure is available online)

Fig. 3

(A) 19-month-old male with tuberous sclerosis. A) Axial T2-weighted images of the brain at multiple levels almost all the lobes (white arrows); (B) Axial FLAIR of the brain showed multiple levels almost all the lobes (white arrows); (C) The lesions showed low signal intensity in T1- weighted with minimal faint contrast enhancement (white arrows) (Color version of figure is available online)