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| NEUROIMAGE |
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| Year : 2022 | Volume
: 70
| Issue : 2 | Page : 818-819 |
Neuroimaging in CEDNIK Syndrome: A Rare Neuro-Ichthyosis
S Vinayagamani, Sabarish Sekar, Bejoy Thomas, Chandrasekharan Kesavadas
Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
| Date of Submission | 18-Jun-2019 |
| Date of Decision | 06-Nov-2019 |
| Date of Acceptance | 13-Jul-2020 |
| Date of Web Publication | 3-May-2022 |
Correspondence Address:
Dr. S Vinayagamani
Department of Imaging Sciences and Interventional Radiology, Sreechitra Institute of Medical Sciences and Technology, Trivandrum - 695 011, Kerala
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.344649
How to cite this article:
Vinayagamani S, Sekar S, Thomas B, Kesavadas C. Neuroimaging in CEDNIK Syndrome: A Rare Neuro-Ichthyosis. Neurol India 2022;70:818-9 |
6-year-old female born of second-degree consanguineous marriage, with no definitive history of perinatal insult presented with gross developmental delay. The child was microcephalic with mongoloid eyes. She displayed icthyosis in the left arm and palmoplantar keratoderma. Neurologic examination reveals bilateral partial ptosis, gaze-evoked nystagmus, spasticity, and power of >3/5 in all 4 limbs with absent deep tendon reflexes and bilateral upper limb ataxia. Nerve conduction study showed diffuse mildly asymmetrical sensorimotor demyelinating polyneuropathy. Ophthalmologic examination revealed bilateral hypertrophic astigmatism with optic atrophy.
MRI revealed bilateral frontoparietal and perisylvian polymicrogyria, dysgenesis of the posterior part of corpus callosum, diffuse symmetrical white-matter changes (T2W Hyperintense and T1 hypointense), elongated dysmorphic pons and optic nerve atrophy [Figure 1]. Constellation of these neuroimaging findings in the background of cutaneous disease suggests CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma); however, MRI differential diagnosis like Zellweger's syndrome, tubulinopathy, and congenital muscular dystrophy were ruled out clinically. Exome sequencing revealed a homozygous single base pair insertion in exon 3 of SNAP 29 gene that results in frameshift and synthesis of a significantly truncated protein due to premature termination of translation of 6 aminoacids downstream to the codon 163 (P.Ser163LysfsTer6). | Figure 1: (a and b) Axial T2 weighted images shows bilateral frontoparietal and perisylvian polymicrogyria (white arrows) with diffuse symmetrical white matter hyperintensity (white arrow heads). Sagital T1 weighted image (c) shows hypoplasia of posterior body and splenium of corpus callosum with elongated dysmorphic pons(white arrows). Coronal T2 weighted images (d) shows thinned out optic nerves suggestive of optic nerve atrophy(white arrows)
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CEDNIK syndrome is caused by mutations in SNAP29 that leads decrease in SNAP29 protein leads to abnormal endocytic vesicle maturation, fusion, and secretion in tissues.[1],[2] Cutaneous manifestations are due to abnormal epidermal differentiation and epidermal layer thickening. SNAP29 deficiency also results in defective endocytic recycling of β1-integrin required for cell migration, which may cause neuronal migration defects in CEDNIK syndrome.[2],[3] Constellation of classical MRI findings like diffuse polymicrogyria, posterior corpus callosal dysgenesis, dysmorphic pons, diffuse white matter signal changes, and optic nerve atrophy along with cutaneous lesions should strongly suggest CEDNIK syndrome. To confirm diagnosis, DNA analysis of SNAP29 is required. No specific therapy exists.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| » References | |  |
| 1. | Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, et al. CEDNIK syndrome results from loss-of-function mutations in SNAP29. Br J Dermatol 2011;164:610-6.  |
| 2. | Rapaport D, Lugassy Y, Sprecher E, Horowitz M. Loss of SNAP29 impairs endocytic recycling and cell motility. PLoS One 2010;5:e9759. |
| 3. | Hsu T, Coughlin CC, Monaghan KG, Fiala E, McKinstry RC, Paciorkowski AR, et al. CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature. Child Neurol Open 2017;4:2329048X17733214. |
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