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| Patient number, sex/age, family history (FH) | Course of pregnancy, perinatal period (PP) | First symptoms | Age at the time of diagnosis | Dysmorphic features | Clinical symptoms |
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| Patient 1, female 18 yrs, FH-negative | Premature uterine contractions, PP-uneventful | 2 yr develop mental delay | 16 yr | yes | Dysmorphic features; convergent strabismus of the left eye, hirsutism; scoliosis; epilepsy—valproic acid resulted in a complete EEG normalization; simple stereotypic movements of the upper limbs |
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| Patient 2, male 7 yrs, FH-negative | Premature uterine contractions, PP-uneventful | 1 mo
dysmorphic features | 1.8 yr | yes | Dysmorphic features; neonatal oedema of the legs, cryptorchidism, brachydactyly; short stature; pronounced hypotonia; gastroesophageal reflux;
severe sleep disturbances; severe autoagression, aggression, inadequate long temper tantrums, and stereotypic movements |
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Patient 3, female 6 yrs,
FH-negative | Gestational diabetes, PP-uneventful | 1 mo
dysmorphic features | 2 yr | yes | Dysmorphic features; poor suck, hypoacusia-cochlear implant, significant hypotonia, no sleep disturbances, cheerful, without aggression or autoagression |
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Patient 4, male 7.7 yrs,
FH-negative | Mother’s hyperthyroidism and
toxoplasmosis, birth at 35 w., 2480 g
10 p. Apgar | 2 mo
abnormal movements | 2.10 yr | yes | Dysmorphic features, vertical and horizontal nystagmus up to 5 mo, global hypotonia, ataxia, decomposition of the movement.
Obligatory mirror movement of upper limbs up to 3–5 yrs, exaggerated startle for unexpected stimuli with head retraction and trunk retropulsion and tremor of stiff limbs; decreased pain sensation.
Epilepsy improvement after lamotrigine therapy. |
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Patient 5, male 21 yrs,
FH-negative | No foetal or perinatal problems | 5 yr
dystonia | 8 yr | no | Motor deterioration, dystonia;
8 yr—only slight voluntary movements of the left upper limb, forced posture, increased muscle tone (rigidity), deep tendon reflexes symmetrical, bilateral dorsal hallux sign; treatment with l-dopa led to deterioration; improvement after bilateral deep brain stimulation of the internal pallidum |
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Patient 6, female 26 yrs,
FH-negative
| No foetal or perinatal problems | 4 yr
dystonia | 13 yr | no | Since 4-5 years of age she began falling and her gait was compromised.
Dystonia;
remission after l-dopa therapy |
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Patient 7, male,
died at 15 mo,
FH-negative | No foetal or perinatal problems | Before 6 mo
tetraparesis
| 13 mo | no | Motor deterioration; tetraparesis spastica |
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