Table 2 Review of all reported cases of hypothalamic hamartomas visualized through cranial ultrasound
Author (year) | GA at birth (weeks) | Age at diagnosis | Neuroimaging | Histological confirmation | PHS Diagnosis | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Prenatal Examination | Postnatal Examination | ||||||||||||
CUS | MRI | ||||||||||||
Location | Size (cm) | Echogenicity | Hydrocephalus | Mass effect | Size (cm) | Signal | MRS | ||||||
Martijn (1984) [19] | n.a. | 4 months | n.a. | n.a. | 2 | Hyperechoic | yes | yes | n.a. | n.a. | n.a. | n.a. | no |
Guibaud et al. (1995) [20] | Term | 14 days | n.a. | Midline, anterior to the posterior fossa | 4.6 × 3.3 | Hyperechoic | no | yes | 5 | T1: isontense, T2: eterogeneously hyperintense. Nonenhancing | n.a. | yes, examination of surgical specimen | no |
Kos et al. (2008) [21] | 36 | n.a. | n.a. | Hypothalamus | 2.5 | Isoechoic | no | n.a. | n.a. | Isointense on all sequences. Nonenhancing. | n.a. | n.a. | yes, GLI3 mutation (Q717X) |
Joo Yeon Lee et al. (2016) [22] | 36 | n.a. | 28 weeks GA: arachnoid cyst | Anterior to the left temporal lobe | 5.1 × 3.5 | Isoechoic | no | yes | 6 × 3 × 4.3 | Isointense on all sequences. Nonenhancing. Few areas with slightly high T1 signal intensity. | Chemical composition similar to white matter | yes, surgical biopsy | no |
Present Case | 34 | 10 days | Unremarkable | Suprasellar region, anterior to the brainstem | 2.1 × 1 | Isoechoic | no | Displacement of third ventricle floor | 3.2 × 2.8 × 1.6 | Isointense | Mild reduction of NAA | no | yes, GLI3 heterozygous mutation (p.Thr694fs) |