Vein of Galen Aneurysmal Malformation Presenting with
Macrocephaly. Eur J Ther 2018; 24(2): 115-7.
MRS should also be performed together with brain MRI in patients with suspected leukodystrophies even if
macrocephaly is not seen.
Common neurological findings include movement disorders such as cerebellar or extrapyramidal dysfunction, speech movement,
macrocephaly, and epileptic seizures (1, 2).
Macrocephaly, bitemporal flattening, frontal prominence, high arched eyebrows, hypertelorism, broad nasal bridge, highly arched palate, and dental deformations were present (Picture 1).
Hydrocephalus comes first among DWM's typical clinical symptoms and because of it,
macrocephaly, eye findings such as horizontal and lateral gaze palsy, nystagmus, strabismus, and irritability and vomiting due to increased intracranial pressure might be observed in childhood.
Physical examination revealed disharmonic short stature (Figure 1), a craniofacial dysmorphism characterized by:
macrocephaly with flat occiput, wide fontanels, high forehead, high anterior hairline, nevus flameus on forehead, hypertelorism, flat nasal bridge with anteverted nostrils and wide nasal base, short and deep philtrum, microretrognathia, microstomia, cleft palate, low-set and posteriorly rotated ears and short neck (Figure 2).
Of the 100 children, (68%) 68/100 had normal occipitofrontal circumference while (28%)28/100had microcephaly and (4%) 4/100 had
macrocephaly. All patients with cerebral palsy (20%)20/100 had microcephaly.History of aura was present only in (2%) 2/100 of patients in 5-12 year age group and that was headache.
Thirty (6%) did not meet a case definition because of misclassification (e.g.,
macrocephaly or microphallus), or because both a physician diagnosis and anthropometric information necessary to accurately categorize head circumference percentile were missing.
Pastore et al., "Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and
macrocephaly," Autism Research, vol.
Clinical features may include one or more of the following dysmorphic features like short stature,
macrocephaly, generalized hair growth anomalies, facial asymmetry, flat facial profile, and midface hypoplasia.
Fetal US examination revealed findings consistent with
macrocephaly, triventricular hydrocephalus, and small cerebellar hemispheres, but no evidence of spina bifida.
Other frequent lesions related to CS are hamartomatous polyps of the digestive tract, fibrocystic disease of the breast, uterine leiomyoma, and
macrocephaly [5,8].