20 May 2021
: Case report 
Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report
Rare coexistence of disease or pathology
Ohood Almutairi1ABDEF*, Hessah A. Almutairi1ABDEF, Maysoun Al Rushood2ADEDOI: 10.12659/AJCR.930966
Am J Case Rep 2021; 22:e930966
Table 1. Summary of the clinical features of patients with protein-activated kinase 3 (PAK3) mutations.
| Publication | Facial features/head circumference | Intellectual disability | Motor/language development delay | EEG/epilepsy | Imaging | Abnormal behavior |
|---|---|---|---|---|---|---|
| Allen et al []4 | Microcephaly | + | Motor/language developmental delay | NA/– | Small brain, but otherwise normal architecture | Violence, hyperactive |
| Bienvenu et al []37 | NA | + | Motor/language developmental delay | NA | NA | NA |
| Gedeon et al []38 | Microcephaly | Mild | Motor developmental delay, learning disability | + | NA | Psychiatric presentation: schizophrenia, psychosis, aggressive antisocial behavior, depression |
| Peippo et al []5 | In all patients (high-bridged nose, thin upper lip, high-vaulted palate) | Mild to moderate in all patients | Motor developmental delay, learning disability | + | Hydrocephalus in 1 patient | Aggression, inattentive, hyperactive, insomnia, agitation, psychotic features |
| Rejeb et al []39 | Microcephaly, flat face, low forehead, up-slanting palpebral fissures, short nose with large ears | Mild to moderate | Motor/language developmental delay | − | NA | Hyperactivity,extreme agitation and aggression, psychotic features |
| Magini et al []40 | Microcephaly, left epicanthus, bilateral ptosis, convergent squint, depressed nasal bridge, broad nasal tip and long ears | + | Motor/language developmental delay | +/+ | Agenesis of the corpus callosum and cerebellar hypoplasia. | NA |
| Muthusamy et al []41 | Microcephaly, elongated face, bushy eyebrows, long and/or prominent low-set ears, short neck, and pes planus | Moderate | Motor/language developmental delay | − | NA | Attention deficit, hyperactivity, aggression |
| Hertecant et al []42 | Macrocephaly | + | Motor/language developmental delay | NA | NA | Temper tantrums |
| Cartwright et al []7 | Bilateral low-set ears, a bulbous tip to the nose, deep-set eyes with accessory nipples | Mild | Motor/language developmental delay | NA | NA | Autism |
| Horvath et al []6 | Facial asymmetry, long midface, full lips and a long jaw and a Marfanoid-like habitus. | Mild | Motor/language developmental delay | + | Ventriculo-megaly, thin corpus callosum, multifocal areas of white matter cavitation of left temporal, left occipital, right parietal, and right occipital lobes | Anxiety, irritability, restlessness, aggression, self-abusive behavior |
| Iida et al []8 | Microcephaly | Severe | Motor/language developmental delay | + | Cerebral white matter and midbrain atrophy, and a thin corpus callosum | Autistic stereotype movement |
| Qian et al []9 | Microcephaly, hypertelorism, mild nasal bridge depression, oral hypotonia, high palatal arch, large ears | + | Motor/language developmental delay | +/− | Enlargement of the lateral ventricles, white matter decreased, and corpus callosum dysplasia | Hyperactivity, aggression |
| Nagy et al []10 | Microcephaly, large ears, prominent but not bulbous nose, low forehead, down slanting palpebral fissures, thin upper lip and high-arched palate | Mild to moderate | Motor/language developmental delay | − | No abnormality | Severe attention deficit, mood imbalance, anxiety and autistic traits |
| This case | Microcephaly, bilateral long and low-set ears, elongated face with oral motor hypotonia, a bulbous tip to the nose and deep-set eyes | Mild | Motor/language developmental delay | −/− | Diffuse cerebral and cerebellar atrophy along with thinning of the corpus callosum | None reported |
| EEG – electroencephalogram; NA – not applicable. | ||||||