preprints.org > medicine and pharmacology > neuroscience and neurology > doi: 10.20944/preprints202312.0512.v1

Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Version 1 : Received: 6 December 2023 / Approved: 7 December 2023 / Online: 7 December 2023 (10:41:32 CET)

.Background: Neither radiological phenotypic characteristics nor reconstruction CT scan to study the cranial contour in children with the so called the idiopathic type of West syndrome has been implemented to reach the etiology understanding. Material and Methods: The basic diagnostic measures and the traditional antiepileptic treatments have been applied to these children in accordance with the conventional protocol of investigations and treatment for children with West syndrome. Boys from three unrelated families were given the diagnosis of idiopathic type of West syndrome. Three boys aged 6,7,9 and three parents (age range of 28-41 year) were included in this study. These children and their parents were referred to our orthopedic departments because of variable skeletal deformities. All showed the history of intellectual disabilities, cryptogenic epileptic spasms and fragmented hypsarrhythmia. Recently, variable forms skeletal deformities of flat foot, torticollis and early onset osteoarthritis. We performed detailed clinical and radiological phenotypic characterization of every affected child, siblings and parents. All affected children underwent whole exome sequence analysis Results: The craniofacial phenotype of all children revealed apparent disruption of development of the cranial bones. Palpation of the skull bones showed unusual palpable boney ridges along different sutural locations. A-7-year-old child showed abnormal bulging over the sagittal suture associated with bilateral boney ridges over the sequamosal sutures. Examining his parents, we noticed a similar skull radiographic abnormality in his mother radiographs. A-10-year-old boy showed an extremely narrow frontal area, facial asymmetry and a well palpable ridge over the lambdoid sutures. 3D reconstruction CT scan confirmed the diagnosis of early closure . His mother showed typical radiographic skull phenotype with a history of postadulthood scoliosis. A- 12-year-old boy showed brachycephaly. Investigating his parents revealed a brachycephalic mother with border line intellegence. We affirm that the pattern of inheritance in the three boys was compatible with X-linked recessive pattern of inheritance . Whole exome sequencing showed non definite phenotype/genotype correlation. Conclusion: The aim of this study was fivefold. First, to refute the common usage of the term idiopathic and we affirm that our findings are Novel. Second, it could be possible that West syndrome is a symptom complex rather than a separate diagnostic entity. Third, to further detect the genetic carrier , we explored the connection between the cranial bones in the children with West syndrome with what is seen in parents.. Fourth, the differences in cranial bones abnormalities among every child and another seems to be heterogeneous. Fifth, it seems that the progressive deceleration in the development of this group of children is highly connected to the progressive closure of the cranial sutures.

Idiopathic type of West syndrome; Cryptogenic epileptic spasms; Cranial bones; Radiology; CT scan

Medicine and Pharmacology, Neuroscience and Neurology

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