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20 May 2021: Articles

Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report

Rare coexistence of disease or pathology

Ohood Almutairi A* , Hessah A. Almutairi A , Maysoun Al Rushood A

DOI: 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.

PublicationFacial features/head circumferenceIntellectual disabilityMotor/language development delayEEG/epilepsyImagingAbnormal behavior
Allen et al []4 Microcephaly+Motor/language developmental delayNA/–Small brain, but otherwise normal architectureViolence, hyperactive
Bienvenu et al []37 NA+Motor/language developmental delayNANANA
Gedeon et al []38 MicrocephalyMildMotor developmental delay, learning disability+NAPsychiatric 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 patientsMotor developmental delay, learning disability+Hydrocephalus in 1 patientAggression, inattentive, hyperactive, insomnia, agitation, psychotic features
Rejeb et al []39 Microcephaly, flat face, low forehead, up-slanting palpebral fissures, short nose with large earsMild to moderateMotor/language developmental delayNAHyperactivity,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 planusModerateMotor/language developmental delayNAAttention deficit, hyperactivity, aggression
Hertecant et al []42 Macrocephaly+Motor/language developmental delayNANATemper tantrums
Cartwright et al []7 Bilateral low-set ears, a bulbous tip to the nose, deep-set eyes with accessory nipplesMildMotor/language developmental delayNANAAutism
Horvath et al []6 Facial asymmetry, long midface, full lips and a long jaw and a Marfanoid-like habitus.MildMotor/language developmental delay+Ventriculo-megaly, thin corpus callosum, multifocal areas of white matter cavitation of left temporal, left occipital, right parietal, and right occipital lobesAnxiety, irritability, restlessness, aggression, self-abusive behavior
Iida et al []8 MicrocephalySevereMotor/language developmental delay+Cerebral white matter and midbrain atrophy, and a thin corpus callosumAutistic 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 dysplasiaHyperactivity, 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 palateMild to moderateMotor/language developmental delayNo abnormalitySevere attention deficit, mood imbalance, anxiety and autistic traits
This caseMicrocephaly, bilateral long and low-set ears, elongated face with oral motor hypotonia, a bulbous tip to the nose and deep-set eyesMildMotor/language developmental delay−/−Diffuse cerebral and cerebellar atrophy along with thinning of the corpus callosumNone reported
EEG – electroencephalogram; NA – not applicable.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923