Table 1.
Clinical and neurophysiology data
| Patient ID | DMJD-1592-2 | DMJD-1592-3 | DMJD-1825-1 | DMJD-1825-2 | DMJD-1846-2 | DMJD-1846-3 |
|---|---|---|---|---|---|---|
| Male/female | Male | Male | Male | Female | Female | Male |
| Ethnic origin | Egyptian | Egyptian | Egyptian | Egyptian | Egyptian | Egyptian |
| Parental consanguinity | + | + | + | + | + | + |
| Age (years;months) | 4;4 | 0;7 | Died at 1;2 | 1;5 | 4 | 2;5 |
| OFC (SD) at birth, cm | 33 (−1.5) | 34.5 (−0.8) | 33 (−1.5) | 33 (−0.6) | 33.8 (−0.8) | 34 (−1) |
| Weight (SD) at birth, kg | 2.700 (−1.3) | 3 (−1) | 2 (−3) | 3.4 (mean) | 3 (−0.5) | 3.2 (−0.5) |
| Length (SD) at birth, cm | 50 (mean) | 51 (+0.5) | 48 (−1) | 47 (−1.2) | 49 (0.3) | 50 (mean) |
| Early neonatal history | Incubated for 7 days | – | Incubated for 30 days | Progressive head enlargement, shunt operation at 14 days | – | Incubated for 3 days |
| Current OFC (SD), cm | 43 (−6.1) | 37 (−1.8) | 38 at 1 year (−5.3) | 38 (−6.2) | 39 (−8.7) | 45 (−3.2) |
| Weight (SD), kg | 13 (−1.9) | 7 (+0.8) | 6 at 1 year (−2.6) | 6.5 (−4.2) | 8.5 (−4.8) | 14 (+0.5) |
| Length (SD), cm | 87 (−3.2) | 63 (0) | 70 at 1 year (−2.4) | 71 (−3) | 89 (−2.5) | 85 (−0.8) |
| Cranial nerve findings | Recurrent dysphagia, able to track objects and respond to sounds, strabismus | Able to track objects and respond to sounds, strabismus | Recurrent dysphagia, not able to track objects | Recurrent dysphagia, can track objects | Recurrent dysphagia, minimal tracking of objects, strabismus | Able to track objects and respond to sounds, strabismus |
| Speech | Delayed, vocalizes non-specific | Babbles | Non-verbal | Non-verbal | Non-verbal | Vocalizes non-specific |
| Autistic features | + | – | – | + | + | + |
| Gait | Non-ambulatory | Non-ambulatory | Non-ambulatory | Non-ambulatory | Non-ambulatory | Non-ambulatory |
| Head lag | +/No independent head support | +/Minimal head support | +/No independent head support | +/Minimal head support | +/Minimal head support | +/Frequent head support |
| Ataxia | Absent | Absent | Absent | Absent | Absent | Absent |
| Pyramidal tract signs | Spastic quadriparesis/hyper-reflexia | Mild spasticity, hyper-reflexia, maintains grasped hands | Spastic quadriparesis | Spastic quadriparesis/hyper-reflexia | Spastic quadriparesis/hyper-reflexia | Mild spasticity, hyper-reflexia, maintains grasped hands |
| Seizures onset/type | 22 days/partial with secondary generalization | 18 days/partial | 7 days/tonic | 30 days/tonic | 30 days/partial and myoclonic | 4 months/partial, and myoclonic |
| Seizures: controlled/treatment | Fairly controlled on phenobarbital then carbamazepine and valproate | Controlled on levetiracetam | Fairly controlled on phenobarbital and valproate | Fairly controlled on valproate | Fairly controlled on valproate, levetiracetam and clonazepam (still daily few myoclonic fits) | Fairly controlled on valproate and levetiracetam |
| Vasomotor instability/recurrent unexplained fever | + | – | + | + | + | + |
| External dysmorphia | + Specific facies and short neck | + Specific facies and short neck | + Specific facies/bilateral talipes equinovarus | + Specific facies/bilateral talipes equinovarus operated | + Specific facies/hazy left eye | + Specific facies |
| Other exam findings | – | – | – | Short systolic flow murmur over pericardium | Unilateral persistent hyperplastic primary vitreous and glaucoma | − |
| Karyotype | 46, XY | 46, XY | 46, XY | 46, XX | 46, XX | 46, XY |
| Metabolic testing | Negative | Negative | Negative | Negative | Negative | Negative |
| EEG | Bilateral epileptiform discharges over the temporoparietal region | Mild bilateral mid-parietal epileptiform activity | N/A | Right frontotemporal epileptiform discharges extending to the left hemisphere and generalized slowing | Right tempro-parieto-occipital epileptogenic activity with secondary generalization | Right centro-temporal spikes with tendency to generalization |
| Fundus examination | Normal | Normal | Normal | Normal | Normal right eye/abnormal in left eye | Normal |
| VEP/BAEP | Normal/normal | Normal/normal | Normal/normal | Normal/normal | Normal right eye and abnormal in left eye/normal | Normal/normal |
| Echocardiography | Normal | Normal | N/A | Non-obstructive hypertrophic cardiomyopathy | Normal | Normal |
| Neuroimaging findings other than DMJD | Bilateral ventriculomegaly, CCH | Mildly dilated lateral ventricles, CCH | ACC, hugely dilated lateral ventricles, thin cerebral mantle, cerebellar vermis hypoplasia | ACC, hugely dilated lateral ventricles in spite of shunt operation, thin cerebral mantle, cerebellar vermis hypoplasia | CCH, ventriculomegaly, with asymmetry and mild atrophic right cerebral hemisphere | CCH, ventriculomegaly |
ACC = agenesis of the corpus callosum; BAEP = brainstem auditory-evoked potentials; CCH = corpus callosum hypoplasia; N = normal; N/A = not available; OFC = occipital–frontal circumference; VEP = visual-evoked potentials.