AP4 Deficiency Syndrome (Severe Intellectual Disability with Progressive Spastic Paraplegia): Symptoms, Diagnosis and Treatment

Severe Intellectual Disability with Progressive Spastic Paraplegia

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

Short Stature

Patients IV-5 and IV-7 displayed short stature. 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]
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]

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]