Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects.

Area of Science:

• Developmental Biology
• Neuroscience
• Medical Genetics

Background:

• Holoprosencephaly is the most frequent congenital brain malformation, characterized by incomplete separation of the forebrain.
• Facial and cranial anomalies are common in affected individuals.
• Vertebral segmentation defects are infrequently associated with holoprosencephaly.

Observation:

• A term-born female infant presented with microcephaly, ocular hypotelorism, ear tag, and short neck.
• Antenatal scans indicated microcephaly; postnatal MRI confirmed semilobar holoprosencephaly.
• Radiography revealed severe vertebral segmentation defects in the cervical and upper thoracic spine.

Findings:

• The infant exhibited feeding difficulties, severe global developmental delay, and central diabetes insipidus.
• This case underscores the rare co-occurrence of holoprosencephaly and significant vertebral anomalies.
• The association was noted without the previously described holoprosencephaly diencephalic hamartoblastoma (HDH).

Implications:

• This case expands the known spectrum of holoprosencephaly presentations.
• Highlights the importance of thorough evaluation for associated anomalies, including spinal defects.
• Contributes to understanding the complex etiology and phenotypic variability of holoprosencephaly.