Table 1.
Summary of IP cases with PHTN
| Clinical characteristics | Triki et al23 | Miteva and Nikolova24 | Hayes et al25 | Godambe et al10 | Yasuda et al26 | Present case |
|---|---|---|---|---|---|---|
| Family history | Not mentioned | Abortion of male at 6 months’ gestation | Yes; mother and maternalgrandmother | Negative | Yes | Negative |
| Age of diagnosis of PHTN | 2 months | 6 months | 15 days | Immediately after birth | 2 months | Immediately after birth |
| Other cardiac anomaly | No | Tricuspid insufficiency and abnormal shunt of right pulmonary artery to superior vena cava | Right ventricular hypertrophy | First echo: PHTN, small atrial septal defect Second echo: – Dilated right ventricle – Marked tricuspid and pulmonary regurgitation |
Tricuspid valve regurgitation, severe right ventricular pressure elevation, patent foramen ovale | Atrial septal defect |
| Neurological | Convulsions on the fifth day of life. Brain CT scan showed diffuse hypodensities in the left hemisphere | Microcephaly, seizure, and hypotonia | Brain MRI showed multiple small areas of petechial hemorrhage. There was an area of cystic encephalomalacia in the right frontal lobe. The septum pellucidum was absent, with fusion of the fornices | Brain MRI showed polymicrogyria in the perisylvian area with cortical dysplasia | Neonatal seizures, multiple cerebral infarctions, multicystic encephalomalacia | Normal |
| Eyes | Not mentioned | Strabismus | Normal | Unilateral temporal avascular retina in zone III and bilateral peripheral straightened vessels and retinal hemorrhages | Not mentioned | Normal |
| Teeth | Not mentioned | Not mentioned | Not applicable | Not applicable | Not applicable | Missing teeth, conoid teeth |
| Hair | Not mentioned | Normal | Not mentioned | Large patch of alopecia on the scalp | Not mentioned | Wooly hair |
| Nails | Not mentioned | Normal | Not mentioned | Not mentioned | Not mentioned | Normal |
| Other anomalies or complications | Not mentioned | Not mentioned | Right hand was absent (acheiria) | GERD | ||
| Gene test | Not mentioned | Not mentioned | Not mentioned | Confirmed | Confirmed | Confirmed |
| Eosinophil | Not mentioned | 26% | Not mentioned | Not mentioned | Hypereosinophilia (34 500/μL) | 1.40% |
| Mortality | Died at 2 months of age | Alive at 6/12 months (at the time of publication) | Died on day 47 of life | Died on day 26 of life | Died at 5 months of age | Still alive at 3 years of age |
Abbreviations: IP, incontinentia pigmenti; PHTN, pulmonary hypertension; CT, computed tomography; MRI, magnetic resonance imaging; GERD, gastroesophageal reflux disease.