Ousmane

Description

He was born from a consanguineous marriage and referred to us for familial myoclonic epilepsy. Pregnancy was normal until few weeks before delivery when mother became ill. Delivery was difficult and at birth he did not cry. His mother reports early motor development delays(he walked after 2 years) but later he caught up with development. At about 7 years of age he started having tremors when reaching to things or eating. Later he started falling frequently (reported also by his school mates in class). Over time, starting around 10 years of age, he developed speech abnormalities, initially slow speech and now essentially not understandable, associated with jerking movements mostly in his arms, and cognitive decline (problems with understanding and with simple math), leading to low grades in school (he is still in 5th grade while he should be at university level). Behavior is normal thought at times he appears tense and a little bit aggressive. EEG showed evidence of generalized seizures. He was started on Valproate that significantly decreased the myoclonus. His referring doctor noticed extrapyramidal signs so he was started on Trivastal.

Symptoms / Signs

Patient is slow in movements and responses to questions. He pronounces only few words. The five-word memory testing was normal but calculation was affected.
Eye movements are normal.
There was a motion tremor, and dysmetria that was worse when eyes are closed.
Myoclonus was noticeable in arms. Reflexes were normal. There were no sensory or motor deficits.
With some care, walking was mostly normal, whereas tandem walk was difficult with falls.

Current Treatments

Valproic acid, Clonazepam

Prior Treatments

Valproic acid, Clonazepam

Considered treatments

Previously Considered Diagnoses

Progressive myoclonic epilepsy

Genetic Variants of Interest

Epilepsy panel testing (126 genes + mtDNA) and CSTB sequencing were negative but exome sequencing identified two homozygous variants in two genes (DNAH17 and PSMB1).