Resumo

SIERRA-SANTOS, Lucía; EJARQUE-DOMENECH, Ismael; MAQUEDA-ZAMORA, Gloria  e  ROMERO-BARZOLA, Yamina. Cerebellar hypoplasia and 15q11.2 duplication, casual genetic findings?. Rev Clin Med Fam [online]. 2020, vol.13, n.3, pp.214-218.  Epub 23-Nov-2020. ISSN 2386-8201.

We present the case of a young girl diagnosed at the age of 4 months with severe congenital cerebellar hypoplasia, with mild horizontal nystagmus and moderate hypotonia. Despite this condition, at the age of 9 she has presented a favorable evolution, with motor independence and a positive academic, intellectual and social evolution.

The genetic study has found 15q11.2 duplication, which usually manifests itself as autism, seizures, and great intellectual deficit, all of which are not present in our patient.

We wonder whether these two diagnoses are connected or whether it is a casual link.

Palavras-chave : Genetic Counseling; Cerebellar Diseases; Cerebrovascular Disorders.

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