Symptoms started at age 7 years, in the form of tremors of the extremities when trying to pick up objects. Around age 10 years, parents reported progressive worsening of the clinical features, speech disorder, and now a delay in responses and speech that is almost not understandable at all. He became nervous and aggressive, with increasing difficulties in understanding and calculating.
Symptoms / Signs
- He responds slowly to questions.
- His eyes show bilateral horizontal nystagmus. Kinetic tremor and dysmetria are present, worse with eyes closed.
- There is slight myoclonuses in his arms. Reflexes were reduced, mostly in the lower limbs, and the plantar response is downgoing (toe flexion).
- There were no sensory or motor deficit. Walking and tandem walking were normal.
- Valproic acid, Clonazepam
- No medication
Previously Considered Diagnoses
- Progressive myoclonic epilepsy
Genetic Variants of Interest
- Epilepsy panel and candidate testing negative
Siblings, age & gender
26-year-old brother and 25-year-old sister
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M is a 20-year old young man from Mali. He is the kindest boy who likes playing football. He loves his family very much.