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Open lip schizencephaly: a rare case report on small head in infancy

Year: 2025
Type: article
Study design: Case Report
Abstract: Schizencephaly is a rare congenital brain malformation defined by cerebrospinal fluid‑filled clefts that run from the cerebral hemisphere’s pial surface to the ventricle’s ependymal surface. In this report, we present a 6-month-old male child who presented with complaints of small head size that was not increasing over the last 3 months and inability to control the neck with often increased tone in neck and left side of body, globally delayed developmental milestones, and excessive crying. The magnetic resonance imaging (MRI) of the brain was done, which showed grey-matter lined CSF cleft extending from the pial surface to the ependymal surface of the right lateral ventricle in the right parieto-occipital region, with associated polymicrogyric smooth surface along clefts that was suggestive of right unilateral opened lip schizencephaly. The child was managed conservatively with physiotherapy, syrup baclofen, vitamin-D3, and other multivitamins, and no neuro-surgical intervention was required. This case emphasizes the importance of evaluating children presenting with globally delayed milestones, spasticity, and microcephaly during infancy as soon as possible using MRI, especially in settings with limited resources. Prompt diagnosis, timely intervention, appropriate counseling of the parents, and a multi-disciplinary approach to the management are needed.
Language: English
Field: Medicine
Open Access status: diamond
OpenAlex ID: W4410634128
FWCI:
Cites: 11
Cited by:
Related to: 10