Table 1 Phenotype of patients with homozygous c.105C>A [p.(Tyr35Ter)] in exon 1 of AIMP2
Family 1 | Family 2 | ||
|---|---|---|---|
P1 | P2 | P3 | |
Individual | |||
Origin | Indian | Indian | Indian |
Consanguinity | Yes | Yes | Yes |
Gender | Female | Female | Male |
Age of presentation | Birth | Birth | Birth |
Birth history | |||
Pregnancy | Uncomplicated | Uncomplicated | Uncomplicated |
Type of delivery | Normal vaginal delivery | NA | Normal vaginal delivery |
Birth weight (g/SD) | 3600 (1) | 2500 (−2) | 2900 (−1) |
Examination findings | |||
Weight (kg/SD) | NA | NA | 12 (−4.1) |
Length (cm/SD) | 103 (−10) | NA | 97 (−4.3) |
OFC (cm/SD) | 40 (−10) | NA | 38.5 (−10) |
Age at assessment | 7 years | NA | 6 years |
Neurological findings | |||
Intellectual disability | Yes | Yes | Yes |
Developmental milestones attained | None | None | None |
Seizures | Yes | Yes | Yes |
Feeding difficulty | Yes | Yes | Yes |
Tone | Spasticity | Spasticity | Spasticity |
Deep tendon reflexes | Exaggerated | NA | NA |
Abnormal movements | No | No | No |
Cerebellar signs | No | No | No |
Kyphoscoliosis | Yes | No | Yes |
Contractures | Yes | NA | Yes |
Investigations | |||
MRI brain | Cerebral atrophy, cerebellar atrophy, prominent cisterna magna, hypo-intensities in the bilateral basal ganglia on T2-weighted sequences, spinal cord atrophy, and thinning of corpus callosum | NA | Cerebral atrophy, cerebellar atrophy, hypo-intensities in the bilateral basal ganglia on T2-weighted sequences, prominent cisterna magna, and thinning of corpus callosum and spinal cord |
EEG | Multifocal spike wave, epileptiform activity | Hypsarrhythmia | Hypsarrhythmia |
Karyotpye | 46, XX | NA | NA |
Metabolic testing | NA | Normal | NA |
Ophthalmology evaluation | NA | Normal | No response on VEP |
Other relevant testing | NA | NA | Normal hearing |
