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Chronic vomiting revealing Joubert syndrome: A case report [PDF]

Radiology Case Reports
Joubert syndrome is a rare autosomal recessive disorder characterized by the presence of the molar tooth sign on imaging. We report the case of a 5-year-old girl diagnosed with Joubert syndrome during the investigation of chronic vomiting.
Leila Haddar, Asmae Kasimi, Karim Haddar, Hajar Errahal, Hamid Ziani, Siham Nasri, Imane Kamaoui, Imane Skiker   +7 more
doaj   +3 more sources

A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report [PDF]

Journal of Medical Case Reports
Background Joubert syndrome is a genetically heterogeneous ciliopathy characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on neuroimaging, often accompanied by neurological impairment.
Liany F. Acosta-Paguada, Milca S. Velásquez-Hernandez, Paola Sophia Bonilla Medina, Eduardo Smelin Perdomo Domínguez   +3 more
doaj   +3 more sources

Radiological features of Joubert syndrome and clinical case presentation [PDF]

Radiology Case Reports
Joubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive
Jorge Ariel Montero Torres, MD, Bruno Flores Escobar, MD, Julian Guzman Martinez, MD, Ricardo Alfonso Barrera Martínez, MD, Frida Priscila Hernández Cortez, MD   +4 more
doaj   +3 more sources

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication [PDF]

Reports
Background and Clinical Significance: Joubert syndrome (OMIM #213300) is a rare predominantly autosomal recessive inherited condition characterized by the classic cerebellar vermis hypoplasia and brainstem anomalies (also known as the “molar tooth sign”),
Yutaka Furuta, Erica T. Nelson, Rory J. Tinker, Angela R. Grochowsky   +3 more
doaj   +3 more sources

Joubert syndrome: a case report of neonatal presentation and early diagnosis

Boletín Médico del Hospital Infantil de México, 2023
Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000–1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described.
Carla I. González-Gordillo, Leslie E. Orozco-Soto, Juan R. Osegueda-Mayen, Alejandra Nava-Tapia, Dario Martinez-Monreal   +4 more
doaj   +2 more sources

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study. [PDF]

Cureus
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder characterized by malformations of the cerebellum and brainstem, most notably the pathognomonic “molar tooth sign” on magnetic resonance imaging (MRI). Clinical manifestations
Ferrão T, Alvelos R, Mauricio K, Almeida S, Rebimbas S.   +4 more
europepmc   +2 more sources

Case series: Joubert syndrome and eosinophilic esophagitis. [PDF]

JPGN Rep
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Schening J, Leon-Paredes S, Chiou E, Szafron V, Olive A, Anvari S.   +5 more
europepmc   +2 more sources

Analysis of CT and MRI Manifestations of Joubert Syndrome. [PDF]

J Belg Soc Radiol, 2023
Objective: To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS). Method: In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve ...
Liao DW, Zheng X.
europepmc   +2 more sources

Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report [PDF]

Children
Background: Joubert syndrome (JS) is a rare ciliopathy characterized by cerebellar and brainstem malformations and the molar tooth sign on magnetic resonance imaging. Motor impairment is primarily driven by axial hypotonia, impaired postural control, and
Łukasz Mański, Aleksandra Moluszys, Eliza Wasilewska, Agnieszka Rosa, Krzysztof Szczałuba, Jan Szumlicki, Krystyna Szymańska, Jolanta Wierzba   +7 more
doaj   +2 more sources

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

Frontiers in Pediatrics
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly,
Caichuan Wei, Haiju Zhang, Miaoying Fu, Jingping Ye, Baozhen Yao   +4 more
doaj   +2 more sources