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]
Face, Head & Neck
- Broad Nasal Bridge
(A.a, B.a, and C.a) Photographs showing dysmorphism, with bulbous nose, broad nasal bridge, coarse features, and wide-open mouth. [ncbi.nlm.nih.gov]
Psychiatrical
- Anger
They thank the Region Pays de la Loire, Angers Loire-Métropole, University of Angers, and University Hospital of Angers for their support to the PREMMI project. They are indebted to Dr. Lagavulin for helpful discussions. [ncbi.nlm.nih.gov]
- 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]
Neurologic
- Pyramidal Tract Signs
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]