Table 1 Summary of common clinical manifestations in 27 cases of infantile SD
Patient No. and reference | Gend-er | Onset age | Diagnosis age | Form of seizure onset | Other clinical manifestations | Prognosis | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Exaggerated startle response to noise | Psychomotor developmental delay/ regression | Macular cherry red spot | Enlarged liver and spleen | Macroce-phaly | Other findings | ||||||
1 [1] | M | 6m | 17m | GTCS, MCS | + | + | + | - | - | MVP, hyperreflexia | Died at 2y |
2 [1] | M | 8m | 25m | MCS | + | + | + | - | - | Hyperreflexia | Died at 4y |
3 [1] | F | 5m | 16m | GTCS | + | + | + | Mild hepatomegaly | - | Axial hypotonia, Hyperreflexia | Died at 2y |
4 [1] | F | 8m | 34m | MCS | + | + | + | - | - | Hyperreflexia | Died at 4y |
5 [5] | M | 6m | 12m | Right-sided FS | + | + | + | - | - | Decreased vision | NA |
6 [6] | M | 6m | 16m | GTCS | + | + | + | - | - | Hypotonia, brisk muscle stretch reflexes, a positive bilateral Babinski’s sign, microcephaly | Succumbed to an intercurrent respiratory illness at 18m |
7 [7] | M | 8m | 22m | MCS, GTCS | + | + | + | + | - | Axial hypotonia with muscle weakness and brisk reflexes | NA |
8 [8] | F | 6m | 15m | Recurrent seizures | - | + | + | - | - | Hypertonia, brisk tendon reflexes | NA |
9 [8] | F | 10m | 12m | Recurrent seizures | - | - | - | - | - | Hypertonia, brisk tendon reflexes | NA |
10 [8] | M | 1m | 8m | Recurrent seizures | + | + | - | - | - | Hypotonia, progressive muscular weakness, loss of motor skills | NA |
11 [8] | F | 8m | 15m | Recurrent seizures | - | - | + | - | - | Hypertonia, brisk tendon reflexes | NA |
12 [9] | M | 6m | 14m | GTCS, MCS | - | + | + | - | + | Poor sense of orientation, partly dilated of pupils, reacted sluggishly | Progressive neurologic deterioration with intercurrent respiratory infections |
13 [10] | M | 6m | 18m | Myoclonus of the face and upper limbs | - | + | + | - | + | Axial hypotonia | NA |
14 [11] | M12/F13 | 6.4m | 14m | Lower limbs spasticity (56%) | - | + 23 patients | + 17 patients | + 2 patients | - | Hypotonia, poor fix and follow and abnormal eye movement | 11 patients died due to aspiration pneumonia and intractable seizure |
20 [4] | F | 6m | 14m | Recurrent seizures | - | + | + | - | - | MR, hyperreflexia | NA |
21 [4] | F | 4m | 8m | Recurrent seizures | + | + | + | - | - | Hyperreflexia | NA |
22 [12] | F | 2w | 3y6m | FS | + | + | + | - | + | Ventricular septal defect, central hypotonia, peripheral hypertonia, a positive Babinski’s sign | Died at 3y6m |
23 [13] | F | 6m | 22m | GTCS | - | + | + | + | + | - | NA |
24 [14] | M | 10m | 10m | GTCS | - | + | + | - | - | Hypotonia, microcephaly, contracture in the bilateral metacarpophalangeal joint | NA |
25 [14] | F | 1y | 1y6m | GTCS | - | + | + | Hepatomegaly | - | café-au-laid spots, hypotonia with brisk reflex | NA |
26 [14] | M | 5m | 11m | GTCS | + | - | + | - | - | CDM | NA |
27 [14] | F | 1y3m | 1y3m | FS | - | + | + | - | + | CDM | Died at 1y9m |