The First Documented Case of Joubert Syndrome in Iraq: A Novel Variant

Advisor Doctor and Expert Trainer, Baghdad Medical City and Iraqi Ministry of Health Baghdad, Iraq

*Corresponding Author: Aamir Jalal Al-Mosawi, Advisor doctor and expert trainer, Baghdad Medical City and Iraqi Ministry of Health Baghdad, Iraq, Email: [email protected]

Received Date: November 10, 2025

Published Date: November 26, 2025

Citation: Al-Mosawi AJ. (2025). The First Documented Case of Joubert Syndrome in Iraq: A Novel Variant. Mathews J Pediatr. 10(3):47.

Copyrights: Al-Mosawi AJ. © (2025).

ABSTRACT

Background: Joubert Syndrome is a rare autosomal recessive neurological disorder marked by hypotonia, developmental delay, and a distinctive brain malformation called the "molar tooth sign", visible on MRI and caused by cerebellar vermis hypoplasia/agenesis. It was first described in 1969 by Marie Joubert and later elaborated on by other researchers. Patients and methods: A 3-year-old female with significant developmental delays, generalized hypotonia, and eye movement abnormalities was evaluated. Her parents were consanguineous, and no family history of similar conditions was reported. MRI showed the classic molar tooth sign, confirming a diagnosis within the Joubert Syndrome spectrum. Clinical Findings:

• Facial features: Synophrys, thick lips, epicanthal folds, frontal hair upsweep, strabismus, hypertelorism, and hypotonic facial expression.
• Neurological: Severe global developmental delay, hypotonia, and nystagmus.
• No abnormalities in limbs, digits, or major organs (kidney, liver).
• No polydactyly or oral anomalies, differentiating it from JS-OFD subtype.

Results: The findings suggested a diagnosis of Joubert Syndrome with oculofacial features (JS-OFG), but without organ or digital involvement, indicating a potentially novel or unclassified variant.

The patient was treated based on our extensive published experiences with treatment of neurological disorders and mental retardation:

• Cerebrolysin, piracetam, citicoline, and nandrolone decanoate.
• Showed improvements in muscle tone, ability to sit and crawl, and reduction in squint and nystagmus.

Conclusion: This case, the first documented case of the syndrome in Iraq illustrates the variability in Joubert syndrome presentation and highlights a potentially new subtype with prominent oculofacial dysmorphism but without systemic or digital anomalies.

Keywords: Joubert Syndrome, New Subtype, Treatment.