Table 2 Phenotypes of the four patients with SPOUT1 compound heterozygous variants
From: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
Case No. | Sex/Age | Gene variant | Age onset | Family history | Clinical phenotype | DD | Microcephaly | VEEG | Brain MRI | Treatment and Prognosis |
|---|---|---|---|---|---|---|---|---|---|---|
1 | M/6 years and 5 months | c.598 C > T c.744_746delATC | 6 months | Normal | IESS, hypertonia, nystagmus, eye adduction, PEM | GDD | OFC <-3SD | Background: / Interictal: Multifocal discharge, Hypsarrhythmia? Ictal: Epileptic spasms | 5 months, 1 year and 3 months, 2 years and 11 months: ACC; 2 years: Bilaterally widened frontotemporal subarachnoid space, bilateral frontal atrophy; White matter hypomyelination | Refractory: TPM, VAP (ACTH, VitB6, VGB, LEV, KD) |
2 | M/11 years and 9 months | c.1046G > A c.662T > C | 5 months | Normal | IESS, hypertonia | GDD | N | Background: / Interictal: Atypical hypsarrhythmia; Ictal: Epileptic spasms | 6 months: N | Seizure free (ACTH, VitB6, VGB) |
3 | M/7 years | c.1058 C > T c.1055G > A | 5 months | Elder sister diagnosed as IESS | IESS | GDD | OFC <-3SD | Background: / Interictal: Atypical hypsarrhythmia, Multifocal discharge; Ictal: / | 5 months: Bilaterally widened frontotemporal subarachnoid space; White matter hypomyelination | Refractory: VGB, VPA, CZP (LEV, ACTH, VitB6) |
4 | M/4 years and 5 months (D) | c.598 C > T c.625T > A | 3 months | Normal | IESS, SUDEP | GDD | OFC <-3SD | Background: Slow; Interictal: Atypical hypsarrhythmia, Multifocal discharge; Ictal: Epileptic spasms | 4 months: Bilaterally widened frontotemporal subarachnoid space; White matter hypomyelination | SUDEP (VPA, LEV, TPM, ACTH) |