Holoprosencephaly in Patau Syndrome

To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies.

Case description:

This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis.

Comments:

Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.

Keywords:
Trisomy 13 syndrome; Patau syndrome; Chromosome 13 duplication; Holoprosencephaly; Semilobar holoprosencephaly; Congenital abnormalities

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[1] *Corresponding author: E-mail: giovaniccosta@gmail.com (G. J. C. Costa).

Alobar	More severe form, in which there is no division between the cerebral hemispheres. There is a single, small ventricle and complete absence of the corpus callosum and olfactory bulb.
Semilobar	There is partial separation of the cerebral hemispheres, absence of the corpus callosum, hypoplasia or absence of the olfactory bulb.
Lobar	There is a distinction between cerebral lobes and division of the cerebral hemispheres. Corpus callosum may be absent, hypoplastic, or normal.
Medium Inter-hemispheric Fusion	It presents failure in the division between the frontal and parietal lobes, absence of corpus callosum and heterotopic gray matter.