Abstract: Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by dysmorphic features, multiple congenital anomalies, hypotonia, psychomotor retardation and epilepsy.
Results: 3 year old Saudi female presented with history of generalized tonic-clonic seizures at the age of 8 months. She had lagoopthalmos and other dysmorhic features. Genetic studies showed terminal deletion in short arm of chromosome 4 consistent with the diagnosis of WHS. Phenobarbital was started initially for the treatment of her seizure. Later, she developed atypical absence seizures and valproic acid was started. Liver enzymes were elevated and the seizures remained uncontrolled. Levetiracetam was started and valproic acid discontinued. She had excellent control on Leviteracetam without clear adverse reaction.
Conclusion: Atypical absence seizures are known type of epilepsy occurring in WHS. Valpric acid was reported to the drug of choice. We believe that Leviteracetam is a good alternative especially in cases of valprioc acid intolerance or side effects.
Keywords: Wolf-Hirschhorn syndrome; status epilepticus; EEG; levetiracetam.
Title: Deletion of Short Arm of Chromosome No. 4 (4p-)-Wolf Hirschorn Syndrome Seizure Disorder, Control on Levetiracetam
Author: Zainab H. Al Alawi
International Journal of Healthcare Sciences
ISSN 2348-5728 (Online)
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