Analysis of twenty pediatric cases of tuberous sclerosis complex: Are we doing enough.

Background: Tuberous sclerosis complex (TSC) is a neuro-cutaneous disease characterized by hamartoma formation in various organs particularly the skin, brain, eye, kidney, heart and lungs. Patients usually have multisystem involvement and thus present to different medical specialties with varied complaints while the true nature of the disease and the hidden manifestations may remain unattended. A im: To assess the frequency and characteristics of various cutaneous and systemic manifestations in TSC and the total impact on different system in a cohort of pediatric patients. Methods: The study included 20 patients fulfilling the diagnostic criteria for TSC from dermatology, pediatrics, and neurology department. Detailed history, examination, and investigations such as chest X-ray, electrocardiography (ECG), ultrasonography (USG) abdomen, echocardiography, fundoscopy, computed tomography (CT) scan of brain and abdomen were done. Results: Dermatological manifestations included ash leaf macules, angiofibromas, shagreen patch, and fibrous plaque. Systemic findings observed were subependymal calcified nodules, subependymal giant cell astrocytoma, cortical tubers, renal cysts, angiomyolipomas, lung cyst, retinal hamartomas, mental deficits and epilepsy. Limitation: Wechsler's Intelligence Scale for Children would have been more appropriate for assessing the intelligence. Dental check-up was not done in our group of patients. Conclusion: Our study highlights the wide variety of cutaneous and systemic manifestations of TSC. The study emphasizes the need for comprehensive multidisciplinary treatment and periodic follow-up which are necessary for appropriate management of this multisystem disorder. Counseling regarding education and rehabilitation of the patients and genetic counseling of parents are important.

Intervenção fonoaudiológica em esclerose tuberosa / Speech language intervention in tuberous sclerosis

A Esclerose Tuberosa e caracterizada come uma desordem degenerativa causadora de nódulos em diversos órgãos, particularmente o cérebro. Os déficits que podem ser apresentados pelos pacientes com Esclerose Tuberosa São manifestados nos níveis biológico, cognitivo e social, fazendo com que o fonoaudiólogo seja membro da equipe de reabilitação. Assim, este trabalho teve come objetivo descrever aspectos da intervenção fonoaudiológica em uma paciente com Esclerose Tuberosa, atendida no Serviço de Atendimento Fonoaudiológico da Universidade Federal de Santa Maria - UFSM, que apresentava, de acordo com a avaliação neurológica, um quadro de retardo global do desenvolvimento relacionado a Esclerose Tuberosa, com manifestações epilépticas e comportamentos do aspecto autista como manifestação secundária. Foram relatados a avaliação multidisciplinar, a terapia fonoaudiológica e seus resultados. Observou-se, na avaliação fonoaudiológica, presença dos reflexos patológicos de sucção e de mordida, comunicação não-intencional com comportamentos reativos e nenhuma intencionalidade na interação. Como objetivos gerais da terapia fonoaudiológica, buscou-se auxiliar o desenvolvimento das funções atrasadas ou inexistentes, tais come cognição, linguagem, sociabilidade, e desenvolvimento psicomotor. As melhoras foram evidenciadas per meio da inibição dos reflexos patológicos, pela evolução das habilidades cognitivas visíveis na forma de manipulação dos objetos, e pelo aumento do contato visual. O relate de case, considerando o prognostico reservado e a complexidade das manifestações clinicas, proporciona mais perspectivas de estudo e pesquisas sobre a intervenção fonoaudiológica em pacientes com Esclerose Tuberosa.

Tuberous Sclerosis is characterized as a degenerative disorder that causes nodules in many organs, particularly the brain. Tuberous Sclerosis patients' deficits may occur in biological, cognitive and social levels, involving the speech language therapist in the rehabilitation staff. Thus, the aim of this study was concisely describe speech therapy intervention aspects of a patient with Tuberous Sclerosis, from the Speech Language and Hearing Clinic of Federal University of Santa Maria, who had a global development delay resulting from Tuberous Sclerosis, with seizures and autistic spectrum behavior as secondary expressions, accord¬ing to neurological assessment. Multidisciplinary assessment, the speech language therapy and its results were described. In speech language assessment, pathologic sucking and bite reflexes, non intentional communication with reactive behaviors, and no deliberate interaction were observed. As general aims of speech language therapy, the development of delayed and inexistent functions, like cognition, language, social skills and psychomotor development, was emphasized. The patient's improvement was evidenced by pathologic reflexes inhibition, evolution in cognitive skills revealed in objects manipulation, and better ocular contact. This case report offers more study approaches and researchs about the Tuberous Sclerosis patients intervention, considering her/his restrict prognosis and the complexity of clinic manifestations.