A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Case presentation: Newborn was born on 07/25/22 in UFTM clinics hospital, premature at 36 weeks and 5 days, iterative cesarean section, APGAR ⅞, aspiration of 11 ml of meconium fluid and gastric lavage were performed without complications. He presented hypotonia and central cyanosis in the 1st minute, requiring oxygen therapy in the first 20 minutes of life. At birth, head circumference was lower than expected (30.5cm - 4.6th percentile). The mother performed serial ultrasounds during prenatal care, but without descriptions regarding the fetal brain circumference, serological tests performed during pregnancy did not show any changes. A microcephaly investigation protocol was started on the first day of life, laboratory tests and serology were performed, with no changes, Karyotype was collected soon after the diagnosis of holoprosencephaly, but until now awaits results. Transfontanella ultrasound showed semilobar holoprosencephaly. Computed tomography with diagnosis of holoprosencephaly. Laboratory tests, serology and cerebrospinal fluid without alterations. The patient remained in good general condition since birth, hemodynamically stable, breathing room air, breastfeeding, with good suction, and at the neurological examination, primitive reflexes were present, without alterations. He was discharged from the hospital on 07/28/22, referred to the neuropediatric outpatient clinic of the hospital for follow-up.

Discussion: Holoprosencephali is a rare brain malformation, the embryonic forebrain does not go through the complete process of segmentation and cleavage and can be identified during prenatal care through intrauterine ultrasound. The 3 main types of holoprosencephaly, in decreasing order of severity are: Alobar, Semilobar and Lobar. Semilobar holoprosencephaly is a partial cleavage in the posterior hemispheres, constituting an intermediate form of the disease. Due to the high risk of associated genetic and chromosomal syndromes, a detailed genetic study of the newborn is required. The recognition, at the time of delivery, of a previously unsuspected case of holoprosencephaly, results from the presence of facial anomalies, an equally important prognostic indicator for the child in question, because the more severe the facial alterations present, the greater the probability that holoprosencephaly is alobar, with low survival prospects.

Final comments: This diagnosis is also important to recognize the need for a chromosomal study to guide management in future pregnancies.

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Publikationsverlauf

Artikel online veröffentlicht:
18. September 2023