A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami.
Kristin D Fauntleroy-LoveTheodore E WilsonNurcicek PademMeredith R GolombPublished in: Child neurology open (2023)
Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 (LARP7) gene. Children with Alazami syndrome are most often affected by a combination of primordial dwarfism, intellectual disability, and distinctive facial features. Previous cases have been primarily found in consanguineous families from the Middle East, Asia, and North Africa. We present a 21-month-old Caucasian male from the Midwest United States with nonconsanguineous parents who presented with frequently reported findings of unusual facial features, poor growth, cardiac and genitourinary findings, and developmental delay; less-frequently reported findings, including transient erythroblastopenia of childhood (TEC) and immune deficiency; and never-before reported findings of periventricular nodular heterotopia and stroke. He developed stroke during a hospitalization for Hemophilus influenzae meningitis. The possible contributions of LARP7 to TEC, immune deficiency, brain malformation, and stroke are discussed. Guidelines for the care of Alazami patients are proposed.
Keyphrases
- intellectual disability
- atrial fibrillation
- cerebral ischemia
- end stage renal disease
- healthcare
- autism spectrum disorder
- copy number
- case report
- ejection fraction
- chronic kidney disease
- young adults
- palliative care
- mental health
- replacement therapy
- left ventricular
- heart failure
- genome wide
- newly diagnosed
- multiple sclerosis
- blood brain barrier
- prognostic factors
- resting state
- dna methylation
- functional connectivity
- chronic pain
- duchenne muscular dystrophy