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Link to original content: http://pubmed.ncbi.nlm.nih.gov/39228958/
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Case Reports
. 2024 Aug 12;19(11):4794-4803.
doi: 10.1016/j.radcr.2024.07.043. eCollection 2024 Nov.

Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review

Praveen K Sharma  1 , Stany Jerosha  1 , Sakthi Ganesh Subramonian  1 , Sam Raja R  1 , Karpagam Rk  1
Affiliations
Case Reports

Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review

Praveen K Sharma et al. Radiol Case Rep. .

Abstract

Cobblestone lissencephaly (C-LIS) (TYPE II) is a rare and severe neuronal migration disorder characterized by a smooth brain surface with overmigrated neurons and abnormal formation of cerebral convolutions or gyri during fetal development, resulting in a cobblestone appearance. C-LIS is associated with eye anomalies and muscular dystrophy. This case report presents a detailed clinical and neuroimaging analysis of a patient diagnosed with cobblestone lissencephaly (Type II). It reviews pertinent literature to enhance our understanding of this complex condition. We report a case of a 6-year-old female child with cobblestone lissencephaly (C-LIS) (Type II) severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) revealed a characteristic cobblestone appearance on the brain surface, indicative of abnormal neuronal migration. In addition to the classic findings of Type II Cobblestone lissencephaly, the patient displayed ventriculomegaly and cerebellar hypoplasia, contributing to the overall neurological impairment observed. The literature review highlights the genetic basis of cobblestone lissencephaly, emphasizing the involvement of genes associated with glycosylation processes and basement membrane integrity. Neuroimaging findings, including MRI and computed tomography scans, are crucial for accurate diagnosis and prognostication. Early identification of cobblestone lissencephaly allows for appropriate counseling and management strategies. However, the prognosis remains guarded, and interventions primarily focus on supportive care and seizure management. This case report contributes to the knowledge of cobblestone lissencephaly, shedding light on the clinical spectrum and neuroimaging features associated with this rare disorder. To clarify the underlying genetic mechanisms and possible therapeutic pathways for better patient outcomes, more investigation is necessary.

Keywords: Cerebellar hypoplasia; Cobblestone lissencephaly; Magnetic resonance imaging; Muscular dystrophies; Neurons.

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Figures

Fig 1
Fig. 1
(A-D): A 6-year-old female was referred to a neurology clinic due to severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) of the brain: T1-weighted (T1W) shows thick cortices in the bilateral high frontoparietal lobes (predominantly in bilateral high frontal lobes) with micro-lobulated or multi-nodular gyri/surface of the “Pebbly/Cobblestone complex” with sparse cortical sulci (arrows).
Fig 2
Fig. 2
(A-D): A 6-year-old female was referred to a neurology clinic due to severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) of the brain: T2-weighted (T2W) shows thick cortices in the bilateral high frontoparietal lobes (predominantly in bilateral high frontal lobes) with micro-lobulated or multi-nodular gyri/surface of the “Pebbly/Cobblestone complex” with sparse cortical sulci (arrows).
Fig 3
Fig. 3
(A-D): A 6-year-old female was referred to a neurology clinic due to severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) of the brain: Fluid attenuation inversion recovery (FLAIR) shows thick cortices in the bilateral high frontoparietal lobes (predominantly in bilateral high frontal lobes) with micro-lobulated or multi-nodular gyri/surface of the “Pebbly/Cobblestone complex” with sparse cortical sulci (arrows).
Fig 4
Fig. 4
(A-C): A 6-year-old female was referred to a neurology clinic due to severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) of the brain shows thick cortices in the bilateral high frontoparietal lobes (predominantly in bilateral high frontal lobes) with micro-lobulated or multi-nodular gyri/surface of the “Pebbly/Cobblestone complex” with sparse cortical sulci (A)Diffusion-weighted image (DWI) - no reduced diffusivity, (B)Apparent diffusion coefficient (ADC)-no signal change, (C)Gradient (GRE) - no blooming (arrows).
Fig 5
Fig. 5
(A-D): A 6-year-old female was referred to a neurology clinic due to severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) of the brain: T2-weighted (T2W) shows that the ventricular system (bilateral lateral ventricles, third ventricle, and fourth ventricle) appears prominent (arrows).
Fig 6
Fig. 6
(A-D): A 6-year-old female was referred to a neurology clinic due to severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) of the brain: Fluid attenuation inversion recovery (FLAIR) shows asymmetrical few smooth hyperintensities in the periventricular white matter of the bilateral corona radiata, frontal lobes, and parietooccipital lobes, and asymmetrical few small confluent hyperintensities in the deep white matter of the bilateral corona radiata, centrum semiovale, frontal lobes, and parietooccipital lobes—Small vessel ischemia (ischemic microangiopathy)—Fazeka's type 2 (arrows).
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