Joubert syndrome with hippocampal malrotation in a 4-month-old male: A case report
- 1Department of Radiology and Imaging, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania; Corresponding author.
- 2Department of Radiology and Imaging, Muhimbili National Hospital - Mloganzila, Dar Es Salaam, Tanzania
Abstract
Joubert syndrome is a rare autosomal recessive ciliopathy characterized by a distinctive midbrain-hindbrain malformation, with the ''molar tooth sign'' as its characteristic neuroimaging hallmark, resulting from cerebellar vermian hypoplasia, thickening and horizontalization of the superior cerebellar peduncles, and a deepened interpeduncular fossa. We report a 4-month-old male infant presenting with developmental delay and progressive weight loss. Brain Magnetic Resonance Imaging revealed the characteristic molar tooth sign, vermian hypoplasia, and an associated hippocampal malrotation, a less frequently recognized but increasingly documented supratentorial finding in Joubert syndrome and related disorders. The patient also had retinal degeneration and elevated transaminases, findings that raise concern for multisystem involvement within the Joubert ciliopathy spectrum. Hippocampal malrotation has been described as an associated supratentorial finding in JS, but its clinical significance, including any relationship with epilepsy, remains uncertain. This case emphasizes careful evaluation of both infratentorial and supratentorial structures and systemic assessment in patients with JS.
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BibTeX
@article{costantiaarutta2026joubert,
title = {{Joubert syndrome with hippocampal malrotation in a 4-month-old male: A case report}},
author = {Costantia A․ Rutta, MD, MMED and Mary C․K․ Kamuzora, MBBS, MMED},
journal = {Radiology Case Reports},
year = {2026},
month = oct,
doi = {10.1016/j.radcr.2026.10.018},
url = {https://doi.org/10.1016/j.radcr.2026.10.018},
note = {CC BY},
}
RIS
TY - JOUR
TI - Joubert syndrome with hippocampal malrotation in a 4-month-old male: A case report
AU - Costantia A․ Rutta, MD, MMED
AU - Mary C․K․ Kamuzora, MBBS, MMED
PY - 2026
DA - 2026/10/30
JO - Radiology Case Reports
DO - 10.1016/j.radcr.2026.10.018
UR - https://doi.org/10.1016/j.radcr.2026.10.018
AB - Joubert syndrome is a rare autosomal recessive ciliopathy characterized by a distinctive midbrain-hindbrain malformation, with the ''molar tooth sign'' as its characteristic neuroimaging hallmark, resulting from cerebellar vermian hypoplasia, thickening and horizontalization of the superior cerebellar peduncles, and a deepened interpeduncular fossa. We report a 4-month-old male infant presenting with developmental delay and progressive weight loss. Brain Magnetic Resonance Imaging revealed the characteristic molar tooth sign, vermian hypoplasia, and an associated hippocampal malrotation, a less frequently recognized but increasingly documented supratentorial finding in Joubert syndrome and related disorders. The patient also had retinal degeneration and elevated transaminases, findings that raise concern for multisystem involvement within the Joubert ciliopathy spectrum. Hippocampal malrotation has been described as an associated supratentorial finding in JS, but its clinical significance, including any relationship with epilepsy, remains uncertain. This case emphasizes careful evaluation of both infratentorial and supratentorial structures and systemic assessment in patients with JS.
SN - 1930-0433
ER -