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Washington University Experience | NEURODEGENERATION | NBIA1 (PKAN, Hallervorden-Spatz Dz) | 4A0 Case 4 History
Case 4 History ---- The patient was an 8year old girl with a panthothenate kinase PANK2 mutation causing PKAN, manifest as severe dystonia and developmental delay, culminating in aspiration and recurrent aspiration pneumonia, GJ tube feed dependence, and tracheostomy dependence for upper airway obstruction. She was recently hospitalized for pseudomonas tracheitis, aspiration pneumonia vs collapsed lung and treated with IV antibiotics. Her dystonic symptoms consisted of both dystonic storming and transient worsening of tone with fever, illness, constipation and increased bowel gas. Dystonia was managed by oral baclofen, trihexyphenidyl, gabapentin in addition to Botox injections. She was last admitted in September 2017 with acute gastroenteritis which improved during hospitalization. At that time she had a cardiopulmonary arrest precipitated by an acute respiratory decompensation for which she was unable to be ventilated due to acute status dystonicus. CPR was administered with return of spontaneous circulation. She was transferred to the PICU for post-arrest care but did not have significant return of neurologic function for the last 10 days of her life. With minimal brain stem reflexes present and no detectible cortical function, her family elected to redirect care and gave consent for organ donation after cardiac death. ---- At autopsy her unfixed brain weighed 1250g. After photography of the exterior brain surface, the left hemisphere, brainstem and cerebellum were donated for specialized studies.
