Dados do Trabalho

Título

NEURODEVELOPMENTAL DELAY CHARACTERISTIC OF PALLISTER KILLIAN SYNDROME.

Apresentação do caso

8 years old patient, male, non-verbal with delayed development in neuropsychomotor and language. The alterations were noticed at the age of 6 months, when the pediatrician who accompanied the case noticed the delay in development and referred him to the child neurologist, to the physiotherapist and to the speech therapist. The physiotherapy treatment provided normal gait and stability in gross movements, although, the fine movements didn’t develop. Even with the follow-up of speech therapy, the patient didn’t speak due to a maxillary monotony, emitting only babbling, despite his understanding not having any alterations, allowing the use of the Brazilian sign language for expression. Anatomical findings still culminate in sialorrhea, difficulty to sputum and dysphagia. The diagnosis was due to the karyotype test and the cytogenetic test, the arm count of the chromosomes identifies supernumerary short arms on chromosome 12.

Discussão

The isochromosome 12 syndrome is a rare congenital anomaly, characterized by a mosaic chromosome 12 due to 2 extra numerals short arms. The principal symptoms presented are craniofacial dysmorphism, heart disease and delay in neurological development.¹ Early detection of correlated symptoms as well as the follow-up with the multidisciplinary team improved the patients quality of life, which showed increased neurological development in the last years.

Comentários finais

Owing to the scarcity of available literature of chromosomal Pallister-Killian syndrome, this article aims to share information on the multidisciplinary follow-up of a case in Ipatinga - MG.

Referências (se houver)

1. Schinzel A. Tetrasomy 12p (Pallister-Killian syndrome) J Med Genet. 1991;28(2):122–25.

Palavras Chave

Síndrome de Pallister-Killian, Atraso no Desenvolvimento Neurológico, Doença Congênita, Alteração Cromossômica

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