Table 4.
Clinical features observed in patients with PDE diagnosed by urine α-AASA measurement and ALDH7A1 gene analysis
| Clinical features and demographics | Incidence |
|---|---|
| Gender | Male 12; female 20 |
| Ethnicity | Caucasian 22; Turkish 1; Mauritian 1; Algerian 4; Pakistani 1; Indian 1; Ghanaian 1; Caucasian/Asian 1 |
| Parental consanguinity | 7/28 (25%) |
| Gestational age ≤37/40 | 5/28 (18%) |
| Abnormal intrauterine movements | 8/24 (33%) |
| Foetal distress | 8/27 (29%) |
| Apgar score <7 at 1 min | 3/20 (15%) |
| Acidosis | 6/23 (26%) |
| Respiratory distress | 6/18 (33%) |
| Hypotonia (neonatal) | 13/23 (57%) |
| Abdominal distension/vomiting | 6/22 (27%) |
| Irritability | 14/24 (58%) |
| Seizure onset within first 28 days | 24/27 (89%) |
| Resistance to antiepileptic drugs | Complete: 14/24 (58%); partial: 9/24 (38%) |
| Seizure type: clonic | 21/23 (91%) |
| Seizure type: tonic | 11/25 (44%) |
| Seizure type: myoclonic jerks | 16/26 (62%) |
| Pyridoxine trial at ≤28 days | 22/29a (76%) |
| Age at first pyridoxine trial | Range 1 day–3 years; median 8 days |
| Cardiovascular/respiratory decompensation with pyridoxine trial | 6/22 (27%) |
| Complete cessation of seizures with first trial of pyridoxine | 25/29 (86%) |
| Speech delay | 11/19 (58%) |
| Squint | 6/18 (33%) |
| Motor delay | 18/24 (75%) |
| Breakthrough seizures with fever | 8/23 (35%) |
| Trial of pyridoxine withdrawal (range of days until seizure recurrence) | 14/23 (61%) (1–51 days) |
| Observed in the present series but not previously described in clinically diagnosed classical PDE | |
| Thrombosis | 1 |
| Escherichia coli sepsisa | 2 |
| Hypocalcaemia plus hypomagnesaemia | 2 |
| Hypoglycaemia | 4 |
| Diabetes insipidus | 1 |
| Optic nerve hypoplasia | 2 |
| Hypothyroidism | 1 |
a Reported previously but only in one patient (Adam et al., 1972).