First clinical manifestations of a case of Fragile X Syndrome in the community

Authors

  • Max Ramiro Ochoa Ortega Policlínico Docente Hermanos Cruz
  • Berta De las Mercedes Abreu Carrete Policlínico Docente "Hermanos Cruz". Pinar del Río
  • Maribel Camejo Pérez Policlínico Docente "Hermanos Cruz". Pinar del Río
  • Elena María González Ávila Policlínico Docente "Hermanos Cruz". Pinar del Río

Keywords:

Síndrome del X Frágil, retardo del desarrollo psicomotor, diagnóstico temprano

Abstract

Background: fragile X Syndrome is the most common mental retardations disorders linked to X chromosome.
Objective: to show the first clinical manifestations of a case of Fragile X Syndrome case that did not began with psychomotor development retardation.
Clinical case: a patient who is transferred to genetic consult for presenting macrocranium, dysplastic ears in form of cup. Aged one year and six month old, he had psychomotor development retardation. Physical examinations and complementary test confirmed Fragile X Syndrome diagnosis. The patient was treated in early stimulation consult which improved the psychomotor development retardation.
Conclusions: the presence of macrocephaly and later psychomotor development retardation helped to make the appropriate diagnosis of that disorder. Early stimulation permitted advances in psychomotor development in this patient.
DeCS: FRAGILE X SYNDROME; PSYCHOMOTOR DISORDERS; THERAPEUTICS; INFANT; CASE REPORTS.

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Author Biographies

Max Ramiro Ochoa Ortega, Policlínico Docente Hermanos Cruz

Medico. Especialista de Segundo Grado en Medicina General Integral. Master en Longevidad Satisfactoria. Asistente. Aspirante a investigador

Berta De las Mercedes Abreu Carrete, Policlínico Docente "Hermanos Cruz". Pinar del Río

Especialista de Segundo Grado en Pediatría. Máster en Atención Integral al Niño. Profesor Auxiliar.

Maribel Camejo Pérez, Policlínico Docente "Hermanos Cruz". Pinar del Río

Especialista de Primer Grado en Ginecoobstetricia. Instructor.

Elena María González Ávila, Policlínico Docente "Hermanos Cruz". Pinar del Río

Especialista de Primer Grado en Medicina General Integral.

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Published

2016-10-25

How to Cite

1.
Ochoa Ortega MR, Abreu Carrete BD las M, Camejo Pérez M, González Ávila EM. First clinical manifestations of a case of Fragile X Syndrome in the community. Arch méd Camagüey [Internet]. 2016 Oct. 25 [cited 2025 Aug. 29];20(5):531-5. Available from: https://revistaamc.sld.cu/index.php/amc/article/view/4587

Issue

Vol. 20 No. 5 (2016)

Section

Case Reports

License

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