Table 1 Main clinical and imaging features of ADSL and of the patient
Main clinical and imaging features of ADSL | Patient features |
|---|---|
- Growth retardation | - |
Head and Face | |
- Brachycephaly | - |
- Microcephaly | - |
- Prominent metopic suture | - |
- Thin upper lip | - |
- Long smooth philtrum | - |
- Low-set ears | - |
- Strabismus | - |
- Nystagmus | - |
Neurologic | |
Central Nervous System | |
- Psychomotor delay, | + |
- Mental retardation | Mild |
- Hypotonia | - |
- Gait ataxia | First two years of life |
- Inability to walk | - |
- Poor eye contact | + |
- Poor language and speech development | + partially controlled |
- Seizures | - |
- Spasticity | - |
- Opisthotonus | - |
- Myoclonus | - |
- Brisk reflexes | - |
- Cerebral atrophy | - |
- Cerebellar atrophy | - |
- Hypomyelination | - |
- Atrophy of corpus callosum | - |
- | |
Behavioral Psychiatric Manifestations | |
- Autistic features | +/− |
- Hyperactivity | - |
- Aggressive behavior | - |
- Temper tantrums | - |
- Stereotypic movements | + |
- Self-mutilation | - |
- Happy demeanor | + |
- Inappropriate laughter | - |