During physical examination,
macrocephaly with the cephalic perimeter of 56 cm (>97 centile) and plagiocephaly, height of 149 cm (25 centile), weight of 49.3 kg (60 centile), three trichoglyphs on the scalp, a prominent metopic ridge, asymmetric and dysmorphic facial features (figure 1) with a high palate were observed.
The case was assessed as BRRS based on the
macrocephaly, lipomatous lesions and pigmented macular lesions on the penis.
The patients may present with disproportionate short stature,
macrocephaly, lumbar lordosis, rhizomelic and mesomelic shortness and brachydactyly (1,2).
(1) Older infants may present with
macrocephaly, neurodevelopmental disorders and seizure.
Left ventricular cardiomyopathy and
macrocephaly can be observed, but not frequently (4).
Autistic individuals present with brain overgrowth and
macrocephaly, with individuals affected by Alzheimer's having physiologic decline in the weight of the brain and subsequent broadening of the lateral ventricles with increasing age (Skullerud, 1985; Sacco et al., 2015).
Majority of the children presented with
macrocephaly while three presented with papilloedema and sixth nerve palsy.
Representative features of achondroplasia include an average-sized trunk, short limbs and
macrocephaly.
Duplications or deletions at a genome region known as 1q21.1 are known to cause
macrocephaly or microcephaly, respectively, and are associated with a range of neurodevelopmental disorders, including ADHD, autism spectrum disorder, and intellectual disability.
In this case report, we present the case of a 4-year-old girl patient who presented with
macrocephaly and was diagnosed with VGAM.
The associated findings in BCNS, in addition to medulloblastoma, include
macrocephaly and dysmorphic features such as cleft lip or palate, frontal bossing, and hypertelorism.