Joubert Syndrome: Differential Diagnosis of Hyperpnea
İpek Türkoğlu, Fevzi Kara, Sinem Arık, Necati Gökmen, Volkan Hancı
Dokuz eylül üniversite hastanesi
Giriş: Joubert syndrome is an autosomal recessive disease characterized by episodes of hypotonia, ataxia, and episodic hyperpnea. The disease can be diagnosed by evaluating the clinical and radiological findings together. Clinically, abnormal eye movements, nystagmus, hyperpnea-apnea episodes, and mental-motor retardation are observed. Radiologically, the leading central nervous system anomalies are the cerebellum vermis, brain stem hypoplasia, and “molar tooth sign” detected in brain radiology.
Olgu: Case report: A 70-year-old male patient with known diagnoses of COPD, diabetes mellitus, hypertension, and chronic kidney failure is brought to the emergency department due to a change in respiratory pattern. He is admitted to the intensive care unit due to respiratory distress with a diagnosis of subsegmental pulmonary embolism and pneumonia. After extubation was attempted twice after treatment, but the patient was tachypneic and whose respiratory pattern changed. He was investigated in terms of central pathologies.According to the anamnesis taken from the patient's relatives, the patient with motor-mental developmental delay had balance (ataxia) and vision problems at later ages. The samples were applied to the medical genetics department for examination for the diagnosis of Joubert syndrome. In the neurological examination, see-saw nystagmus was observed in the eye, and no pathology was observed in the eye, cardiac, and abdominorenal system examinations. The clinical correlation was provided when the brain MR images showed a molar tooth image (Figure 1) and cerebellum dysplasia in the brain. Patient guardian consent was obtained for the case report.
Tartışma ve Sonuç: Joubert syndrome should be considered in the differential diagnosis with clinical correlation in patients with episodic hyperpnea attacks and weaning difficulties. The diagnosis of the disease can be made by evaluating the clinical and radiological findings together and genetic studies
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