Avaliação dos aspectos neuropsicolingüísticos de um caso de holoprosencefalia com mutação do gene SHH

Abstract

A holoprosencefalia (HPE) é a mais freqüente das malformações craniofaciais descritas na literatura. Diversos genes já foram identificados como causadores desse tipo de anomalia, entre eles, o Sonic Hedgehog (SHH), ZIC2, SIX3 e TGIF. O objetivo deste estudo foi avaliar as habilidades neuropsicolingüísticas de um indivíduo com HPE e mutação no gene SHH, apresentando características fenotípicas do tipo Like. Os resultados evidenciaram que, apesar de se tratar de um grau leve de HPE (fenótipo Like), o paciente apresentou perdas significativas nas habilidades lingüísticas, com aspecto cognitivo dentro da normalidade. O exame de ressonância magnética do encéfalo revelou hipoplasia da comissura anterior e presença de cisto temporal à esquerda, achados aparentemente não relacionados à sintomatologia clínica.

Incontinentia pigmenti

“… 81 Other changes, such as higharched palate, soft palate hypoplasia, cleft palate and cleft lip are also present in many of these individuals, 7 , 79 as are swallowing and voice disorders, also common in patients with genetic syndromes. 82 …”

Alterações estomatognáticas e de fala são comuns entre crianças com incontinência pigmentar

“…The insertion of speech therapy aims at a better quality of life for IP carriers. It is role of the speech therapist, as a member of the multidisciplinary team, to characterize the manifestations involving language, speech, hearing and voice, as well as the functions of the stomatognathic system, as swallowing and chewing (9) . Currently, advances in health care, both in speech therapy as in Genetics, and multidisciplinary work have attracted increasing interest from both areas, as they evolve as complementary sciences, not only to better understanding of human communication and its disorders, but also for further characterization and development of specific programs for people with genetic syndromes (10) .…”

Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti

“…4 Cleft lip and palate, 4,8,9 ogival palate, and hypoplasia of the soft palate can also occur. 8,9 Additionally, patients can show alterations in orofacial motricity and deglutition, 19 and speech problems. 8 IP is considered a congenital etiological factor of malocclusion, because the dentofacial deformities are among its signs and symptoms, making the study of these patients important for orthodontics.…”