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- Title
Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency.
- Authors
Jurecka, Agnieszka; Opoka-Winiarska, Violetta; Rokicki, Dariusz; Tylki-Szymańska, Anna
- Abstract
Epilepsy in adenylosuccinate lyase deficiency may be difficult to treat, and there is no standardized therapy. The authors describe a case of severe adenylosuccinate lyase deficiency resulting from a heterozygous mutation of the ADSL gene (p.D215H/p.I351T). The patient presented with tonic-clonic seizures, opisthotonus, tremor, and myoclonus in the 4th day of life. The seizures were refractory on various combinations of antiepileptic treatment. A ketogenic diet was introduced at the age of 2 resulting in a seizure-free period. The patient, however, developed a metabolic hyperchloremic acidosis with Fanconi syndrome, which disappeared a month after cessation of the diet at the age of 5. Since the withdrawal of the ketogenic diet, seizures have returned to a frequency of several times a day. In conclusion, a ketogenic diet could be considered a valid therapeutic option in patients with intractable seizures in a course of adenylosuccinate lyase deficiency; however, it requires a formal study.
- Subjects
TREATMENT of epilepsy; GENETIC mutation; ACIDOSIS; FANCONI syndrome; KETOGENIC diet
- Publication
Journal of Child Neurology, 2012, Vol 27, Issue 5, p645
- ISSN
0883-0738
- Publication type
Case Study
- DOI
10.1177/0883073811424465