Presentation
Dysmorphic features (figure 2, Aa, Ba, Ca) were also present. The 3 patients needed assistance to most common daily living activities. [ncbi.nlm.nih.gov]
Entire Body System
- Epilepsy
[…] been identified in patients with complex HSP (SPG 47, 50, 51, and 52 respectively).4,–8 The AP4-deficiency syndrome is characterized by progressive spasticity, microcephaly, intellectual deficiency, dysmorphic traits, and growth retardation,4,–8 while epilepsy [ncbi.nlm.nih.gov]
Psychiatrical
- Psychomotor Retardation
Psychomotor retardation with spasticity of the 4 limbs was noticed early in life. Clinical examination from the first year showed spastic tetraplegia, with pyramidal tract signs and equinovarus. [ncbi.nlm.nih.gov]
Pathophysiology
Neurodegeneration with brain iron accumulation: genetic diversity and pathophysiological mechanisms. Annu Rev Genomics Hum Genet 2015;16:257–279. [PubMed] [Google Scholar] 13. Langouët M, Siquier-Pernet K, Sanquer S, et al.. [ncbi.nlm.nih.gov]