# Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges

**Authors:** Ahmed Alshafei Elmahi Ahmed, Mehad Mortada BadrAlden Ahmed, Aisha Gameraldeen Abdalrhim Ibrahim, Arafa Mubarak Abotalib Aref, Thowiba Mohammed Abdalla Saidahmed, Osman Elshazali Osman Abd Elaziz, Zahra Abdalla Ahmed Neel, Mohammed Musa Abozaid Alkarar, Tarig Mohamed Nourallah Altegani, Amjed Abdu Ali Mohammed, Mohammed Hammad Jaber Amin

PMC · DOI: 10.1002/ccr3.70733 · Clinical Case Reports · 2025-07-30

## TL;DR

This paper discusses two Sudanese sisters with Joubert Syndrome, emphasizing the need for better diagnosis in low-resource areas.

## Contribution

The study highlights diagnostic challenges and the importance of clinical suspicion in underrepresented populations.

## Key findings

- Two Sudanese sisters showed neurodevelopmental delays and MRI-confirmed molar tooth sign.
- Joubert Syndrome is underdiagnosed in low-resource settings due to limited neuroimaging access.
- The case underscores the need for genetic counseling and increased clinical awareness.

## Abstract

Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low‐resource settings. Sibling cases with neurodevelopmental delays and MRI‐confirmed molar tooth sign highlight the urgent need for heightened clinical suspicion, accessible neuroimaging, and genetic counseling to address underdiagnosis in underrepresented populations.

## Linked entities

- **Diseases:** Joubert Syndrome (MONDO:0018772)

## Full-text entities

- **Genes:** NPHP1 (nephrocystin 1) [NCBI Gene 4867] {aka JBTS4, NPH1, SLSN1}, AHI1 (Abelson helper integration site 1) [NCBI Gene 54806] {aka AHI-1, JBTS3, ORF1, dJ71N10.1}, CEP290 (centrosomal protein 290) [NCBI Gene 80184] {aka 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4}, TMEM67 (transmembrane protein 67) [NCBI Gene 91147] {aka JBTS6, MECKELIN, MKS3, NPHP11, TNEM67}
- **Diseases:** fasciculations (MESH:D005207), oculomotor apraxia (MESH:C537423), ataxia (MESH:D001259), neurological impairment (MESH:D009422), renal disease (MESH:D007674), Neurodevelopmental Delays (MESH:D006968), hypoplasia of (MESH:D000080344), retinal disease (MESH:D012164), Coma (MESH:D003128), psychiatric (MESH:D001523), gastroenteritis (MESH:D005759), JS (MESH:C536293), meningitis (MESH:D008580), hypochromic microcytic anemia (MESH:C536357), ciliopathies (MESH:D000072661), hypotonia (MESH:D009123), autosomal recessive rare genetic disease (MESH:D035583), malnutrition (MESH:D044342), oral-facial-digital anomalies (MESH:C557821), autosomal recessive neurodevelopmental disorder (MESH:D002658), nystagmus (MESH:D009759), lymphadenopathy (MESH:D008206), metabolic disorders (MESH:D008659), infection (MESH:D007239), frontal bossing (MESH:D020233), tachypnea (MESH:D059246), CMV (MESH:D003586), central nervous system (CNS) dysfunction (MESH:D002493), respiratory distress (MESH:D012128), thrombocytopenia (MESH:D013921), rubella (MESH:D012409), fever (MESH:D005334), TORCH infections (MESH:C535607), cerebral sequelae (MESH:D002547), thoracic dystrophy (MESH:C537571), cerebellar vermis (MESH:C537206), dysmorphic (MESH:D057215), fits (MESH:D012640), abnormal eye movements (MESH:D005124), oculorenal disease (MESH:D004194), liver disease (MESH:D008107), autosomal recessive (AR) disorders (MESH:D030342), hepatosplenomegaly (MESH:C535727), neurological malformations (MESH:D009421), intellectual disability (MESH:D008607), acute malnutrition (MESH:D000067011)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12311228/full.md

## References

28 references — full list in the complete paper: https://tomesphere.com/paper/PMC12311228/full.md

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Source: https://tomesphere.com/paper/PMC12311228