Case report on Joubert Syndrome

Author(s)	Megha S Arali, Yashoda K, Bhavani P, Tulasi
Country	India
Abstract	The uncommon hereditary autosomal recessive heterogeneous neurodevelopmental illness known as Joubert syndrome is characterized by cerebral vermis malformation and mostly manifests as molar tooth sign, hypotonia, and developmental delay. In addition to the CNS, JS can impact other systems that are referred to Joubert . All illnesses that show the Molar tooth indication on brain imaging are classified as JSRDs (Joubert syndrome related disorders). The primary cause of JS is abnormalities in the cilium called cilium aberrations, an organelle involved in organogenesis that serves as a hub for signals. We describe a boy infant born one month and fifteen days ago who had MRI imaging evidence of MTS. Pediatricians and neurologists must work together to detect and treat disorders in their early stages in order to prevent any serious abnormalities.
Keywords	Molar tooth sign, Joubert syndrome related disorders, Cilium aberrations.
Field	Medical / Pharmacy
Published In	Volume 7, Issue 1, January-February 2025
Published On	2025-01-05
Cite This	Case report on Joubert Syndrome - Megha S Arali, Yashoda K, Bhavani P, Tulasi - IJFMR Volume 7, Issue 1, January-February 2025. DOI 10.36948/ijfmr.2025.v07i01.34309
DOI	https://doi.org/10.36948/ijfmr.2025.v07i01.34309
Short DOI	https://doi.org/g82hjq

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