Table 1 Phenotypic features of the patients
From: A novel syndrome of lethal familial hyperekplexia associated with brain malformation
Patient No (Pedigree No, Figure 1) | Patient 1 ( IV.1) | Family 1 | Patient 3 (IV.4) | Patient 4 (IV.5) | Family 2 | Patient 6 (IV.11) |
|---|---|---|---|---|---|---|
| Â | Â | Patient 2 (IV.3) | Â | Â | Patient 5 (IV.6) | Â |
Sex | F | M | F | M | M | F |
Gestational age | Term | Term | Term | Term | Term | Term |
Excessive fetal movement | + | + | + | NA | + | + |
Birth weight (gm) | 2985 | 3200 | 2620 | NA | 2980 | 2970 |
Occipitofrontal circumference (cm) | 30.5 | 32 | 31 | NA | 31 | 31 |
Signs of hyperekplexia | ||||||
• Stiffness | + | + | + | + | + | + |
• Non-habituating generalized flexor spasm to glabellar tap | + | + | + | + | + | + |
• Exaggerated persistant Startle reaction to stimuli | + | + | + | + | + | + |
Major neurologic findings | ||||||
• Microcephaly | + | + | + | + | + | + |
• Hypertonia | + | + | + | NA | + | + |
• Arthrogryposis | + | + | + | NA | + | + |
Ophthalmic examination | Bilateral optic atrophy | Bilateral optic atrophy | Bilateral optic atrophy | NA | Bilateral optic atrophy | Bilateral optic atrophy |
Electroencephalography (EEG) | • Background: Widespread low voltage brain waves, with occasional synchronized jerks mostly myogenic in origin. | • Background: Consisted of low voltage brain wave tracing all over the record. | NA | NA | • Background: Diffuse slow activity with low voltage for age. | EEG: Full of motion artifacts but the background was continuous without epileptic discharges. |
• Prominent electrical contamination from the ventilator. |  |  | • No spikes or sharp waves and no abnormal focal changes. | |||
• Occasional synchronized jerks most likely coming from the muscle. | • No electrical sign of seizure activity. | |||||
Metabolic screen | Negative | Negative | Negative | NA | Negative | Negative |
Chromosome analysis | 46XX | 46XY | 46XX | NA | 46XY | 46XX |
CT brain | Figure 2A & B: Brain underdevelopment with large extra cerebral CSF spaces | Figure 2C: Remarkable brain under-development with very few sulci in frontal and temporal lobes. Sylvian fissures are under-developed and wide open. | Figure 2E & F: Remarkable cerebral and cerebellar under-development, simplified gyral pattern and enlargement of extra cerebral CSF spaces. | NA | Cerebral and cerebellar atrophy | NA |
MRI brain | NA | Figure 2 D: Small cerebellar vermis. | NA | NA | NA | Figure 2 G & H: Simplified gyral pattern. The frontal and temporal lobes are very few and shallow. Sylvian fissures are wide open. |
Age at death | 6 weeks | 2 weeks | 6 weeks | 4 days | 4 weeks | 3 weeks |