Joubert Syndrome: A Rare Radiological Case
| Autor: | Ali Akhtar, Syed Adeel Hassan, Fahad N Sheikh, Noor Ul Falah, Maham Khan |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Ataxia
genetic structures Nystagmus 030204 cardiovascular system & hematology Joubert syndrome 03 medical and health sciences 0302 clinical medicine Ptosis batwing configuration medicine Internal Medicine Global developmental delay delayed milestones business.industry General Engineering joubert syndrome Anatomy medicine.disease Hypotonia eye diseases oculomotor dysfunction Neurology molar tooth appearance Gait Ataxia infantile hypotonia medicine.symptom business Radiology 030217 neurology & neurosurgery Horizontal pendular nystagmus |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| Popis: | Joubert syndrome is a rare autosomal recessive neurodevelopmental disease characterized by abnormal breathing patterns composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, intellectual impairment, ocular impairment, renal cysts, and hepatic fibrosis. We report the case of a 4-year-old boy who presented with global developmental delay, bilateral nystagmus, and gaze instability with difficulty walking and maintaining an upright posture. A detailed examination revealed facial dysmorphic features with a depressed nasal bridge and deepened orbital sockets. Neurological examination yielded positive results for hypotonia, gait ataxia, bilateral horizontal pendular nystagmus, and a grade 1 ptosis more prominent in the right eye. However, no abnormal breathing patterns were observed in our case. Magnetic resonance imaging revealed the characteristic molar tooth sign and a batwing appearance of the fourth ventricle. |
| Databáze: | OpenAIRE |
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