Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

OBJECTIVE: The natural history of succinic semialdehyde dehydrogenase (SSADH) deficiency in adulthood is unknown; we elucidate the clinical manifestations of the disease later in life. METHODS: A 63-year-old man with long-standing intellectual disability was diagnosed with SSADH deficiency following hospitalization for progressive decline, escalating seizures, and prolonged periods of altered consciousness. We present a detailed review of his clinical course and reviewed our SSADH deficiency database adult cohort to derive natural history information. RESULTS: Of 95 patients in the database for whom age at diagnosis is recorded, there are 40 individuals currently aged 18 years or older. Only 3 patients were diagnosed after age 18 years. Of 25 adults for whom data are available after age 18, 60% have a history of epilepsy. Predominant seizure types are generalized tonic-clonic, absence, and myoclonic. EEGs showed background slowing or generalized epileptiform discharges in two-thirds of adults for whom EEG data were collected. History of psychiatric symptoms was prominent, with frequent anxiety, sleep disturbances, and obsessive-compulsive disorder. CONCLUSIONS: We identified patients older than 18 years with SSADH deficiency in our database following identification and review of a patient diagnosed in the seventh decade of life. The illness had a progressive course with escalating seizures in the index case, with fatality at age 63. Diagnosis in adulthood is rare. Epilepsy is more common in the adult than the pediatric SSADH deficiency cohort; neuropsychiatric morbidity remains prominent.

Severe aggressive acute disseminated encephalomyelitis-like reaction after aneurysm coiling.

OBJECTIVE: Neurointerventional procedures are the first choice of treatment for a variety of cerebrovascular pathologies in many centers worldwide. Although less invasive than conventional traditional surgical approaches, interventional procedures are not exempt from complications. We describe a case of an unusual complication after a coiling procedure where the patient developed severe brain edema induced by contrast media and resembling an aggressive acute disseminated encephalomyelitis-like reaction that was reversed with appropriate therapy. CLINICAL PRESENTATION: A 53-year-old, right-handed woman presented with an incidental 4 x 6-mm anterior communicating complex aneurysm, which was successfully coiled with balloon assistance. On the third postcoiling day, she presented to the emergency department with global aphasia, dysarthria, right upper motor neuron pattern facial paresis, and right hemiplegia and hemianesthesia. INTERVENTION: The initial intervention was a microballoon-assisted coiling of the anterior communicating complex aneurysm. The intervention for the subsequent complication was high-dose intravenous methylprednisolone for 5 days followed by slow tapering of oral prednisolone. At a 4-month follow-up examination, the patient was asymptomatic and neurologically intact. CONCLUSION: We present a case of an unusual complication after a coiling procedure. Considering that endovascular interventional procedures are part of the therapeutic armamentarium for cerebrovascular pathologies, it is of fundamental importance to increase awareness of potential complications that could arise from such interventions.