Gaviño-Vergara A, Lemarroy-Toledo AR, Lara-Solano LC

Language: Spanish
References: 8
Page: 20-23
PDF size: 396.31 Kb.

ABSTRACT

Introduction. The X-linked hydrocephalus is a genetic disorder located on the X chromosome, which is characterized by the following clinical manifestations: mental retardation, bilateral adducted thumbs and spasticity in the upper and lower limbs. It is the most common genetic form of congenital hydrocephalus, with an incidence of 1 per 30.000 births in the case of males.
Clinical case. present the case of two brothers of 15 and 16 years of age with the diagnosis of X-linked hydrocephalus. They have a family history of an uncle, of maternal branch, who died with the same diagnosis. Genetic counseling was given to the family due to the X-linked recessive inheritance and followed possible women carriers.
Discussion. The importance of this clinical case lies in the followup and genetic counseling to the relatives, since the genealogical tree of the patients shows a clear pattern of X-linked recessive inheritance. It is basic the treatment and follow-up in these patients by a multidisciplinary team, with experience in different areas such as: pediatrics, neurology, neurosurgery, rehabilitation and genetics.
Conclusion. X-linked hydrocephalus is an entity that must know both general practitioners and specialists, since in addition to having an impact on the follow-up and diagnosis of these patients should be studied to possible carriers of the disease within the same family.

REFERENCES

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